Haplotypes: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Linkage Disequilibrium: Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone.Gene Frequency: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.Genetic Variation: Genotypic differences observed among individuals in a population.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Polymorphism, Genetic: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Genetics, Population: The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.DNA, Mitochondrial: Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Founder Effect: A phenomenon that is observed when a small subgroup of a larger POPULATION establishes itself as a separate and isolated entity. The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive.Case-Control Studies: Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.HLA-DQ Antigens: A group of the D-related HLA antigens found to differ from the DR antigens in genetic locus and therefore inheritance. These antigens are polymorphic glycoproteins comprising alpha and beta chains and are found on lymphoid and other cells, often associated with certain diseases.Microsatellite Repeats: A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Polymorphism, Restriction Fragment Length: Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.HLA-DQ beta-Chains: Transmembrane proteins that form the beta subunits of the HLA-DQ antigens.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.HLA-DRB1 Chains: A subtype of HLA-DRB beta chains that includes over one hundred allele variants. The HLA-DRB1 subtype is associated with several of the HLA-DR SEROLOGICAL SUBTYPES.Models, Genetic: Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.European Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Europe.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.HLA-DR Antigens: A subclass of HLA-D antigens that consist of alpha and beta chains. The inheritance of HLA-DR antigens differs from that of the HLA-DQ ANTIGENS and HLA-DP ANTIGENS.HLA Antigens: Antigens determined by leukocyte loci found on chromosome 6, the major histocompatibility loci in humans. They are polypeptides or glycoproteins found on most nucleated cells and platelets, determine tissue types for transplantation, and are associated with certain diseases.Asian Continental Ancestry Group: Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.Major Histocompatibility Complex: The genetic region which contains the loci of genes which determine the structure of the serologically defined (SD) and lymphocyte-defined (LD) TRANSPLANTATION ANTIGENS, genes which control the structure of the IMMUNE RESPONSE-ASSOCIATED ANTIGENS, HUMAN; the IMMUNE RESPONSE GENES which control the ability of an animal to respond immunologically to antigenic stimuli, and genes which determine the structure and/or level of the first four components of complement.Geography: The science dealing with the earth and its life, especially the description of land, sea, and air and the distribution of plant and animal life, including humanity and human industries with reference to the mutual relations of these elements. (From Webster, 3d ed)Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Genetic Association Studies: The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.HLA-DQ alpha-Chains: Transmembrane proteins that form the alpha subunits of the HLA-DQ antigens.Phylogeography: A field of study concerned with the principles and processes governing the geographic distributions of genealogical lineages, especially those within and among closely related species. (Avise, J.C., Phylogeography: The History and Formation of Species. Harvard University Press, 2000)Y Chromosome: The male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans and in some other male-heterogametic species in which the homologue of the X chromosome has been retained.Homozygote: An individual in which both alleles at a given locus are identical.HLA-DR3 Antigen: An HLA-DR antigen which is associated with HLA-DRB1 CHAINS encoded by DRB1*03 alleles.Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Genes, MHC Class II: Genetic loci in the vertebrate major histocompatibility complex that encode polymorphic products which control the immune response to specific antigens. The genes are found in the HLA-D region in humans and in the I region in mice.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.HLA-B Antigens: Class I human histocompatibility (HLA) surface antigens encoded by more than 30 detectable alleles on locus B of the HLA complex, the most polymorphic of all the HLA specificities. Several of these antigens (e.g., HLA-B27, -B7, -B8) are strongly associated with predisposition to rheumatoid and other autoimmune disorders. Like other class I HLA determinants, they are involved in the cellular immune reactivity of cytolytic T lymphocytes.Genealogy and HeraldryHeterozygote: An individual having different alleles at one or more loci regarding a specific character.DNA, Chloroplast: Deoxyribonucleic acid that makes up the genetic material of CHLOROPLASTS.Recombination, Genetic: Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.Cytochromes b: Cytochromes of the b group that have alpha-band absorption of 563-564 nm. They occur as subunits in MITOCHONDRIAL ELECTRON TRANSPORT COMPLEX III.Chromosomes, Human, Y: The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.Bahrain: An independent state, an archipelago in the western Persian Gulf, northwest of Qatar. It comprises low-lying islands of Bahrain (the largest), Muharraq, Sitra, and several islets. It has extensive oil fields. The name comes from the Arabic al-bahrayn, "the two seas", with reference to its lying in the middle of a bay with its "two seas" east and west of it. (From Webster's New Geographical Dictionary, 1988, p107 & Room, Brewer's Dictionary of Names, 1992, p45)Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.China: A country spanning from central Asia to the Pacific Ocean.African Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Africa.HLA-B8 Antigen: A specific HLA-B surface antigen subtype. Members of this subtype contain alpha chains that are encoded by the HLA-B*08 allele family.AfricaHLA-A Antigens: Polymorphic class I human histocompatibility (HLA) surface antigens present on almost all nucleated cells. At least 20 antigens have been identified which are encoded by the A locus of multiple alleles on chromosome 6. They serve as targets for T-cell cytolytic responses and are involved with acceptance or rejection of tissue/organ grafts.Gene Pool: The total genetic information possessed by the reproductive members of a POPULATION of sexually reproducing organisms.Polynesia: The collective name for the islands of the central Pacific Ocean, including the Austral Islands, Cook Islands, Easter Island, HAWAII; NEW ZEALAND; Phoenix Islands, PITCAIRN ISLAND; SAMOA; TONGA; Tuamotu Archipelago, Wake Island, and Wallis and Futuna Islands. Polynesians are of the Caucasoid race, but many are of mixed origin. Polynesia is from the Greek poly, many + nesos, island, with reference to the many islands in the group. (From Webster's New Geographical Dictionary, 1988, p966 & Room, Brewer's Dictionary of Names, 1992, p426)EuropeLikelihood Functions: Functions constructed from a statistical model and a set of observed data which give the probability of that data for various values of the unknown model parameters. Those parameter values that maximize the probability are the maximum likelihood estimates of the parameters.Genes, MHC Class I: Genetic loci in the vertebrate major histocompatibility complex which encode polymorphic characteristics not related to immune responsiveness or complement activity, e.g., B loci (chicken), DLA (dog), GPLA (guinea pig), H-2 (mouse), RT-1 (rat), HLA-A, -B, and -C class I genes of man.Promoter Regions, Genetic: DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.Selection, Genetic: Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.Genetic Loci: Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.Algorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.Gene Flow: The change in gene frequency in a population due to migration of gametes or individuals (ANIMAL MIGRATION) across population barriers. In contrast, in GENETIC DRIFT the cause of gene frequency changes are not a result of population or gamete movement.HLA-A1 Antigen: A specific HLA-A surface antigen subtype. Members of this subtype contain alpha chains that are encoded by the HLA-A*01 allele family.DNA: A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).Ethnic Groups: A group of people with a common cultural heritage that sets them apart from others in a variety of social relationships.Indians, South American: Individual members of South American ethnic groups with historic ancestral origins in Asia.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Species Specificity: The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.DNA Primers: Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.Risk Factors: An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.Genome, Human: The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.Wolves: Any of several large carnivorous mammals of the family CANIDAE that usually hunt in packs.South AmericaAsia: The largest of the continents. It was known to the Romans more specifically as what we know today as Asia Minor. The name comes from at least two possible sources: from the Assyrian asu (to rise) or from the Sanskrit usa (dawn), both with reference to its being the land of the rising sun, i.e., eastern as opposed to Europe, to the west. (From Webster's New Geographical Dictionary, 1988, p82 & Room, Brewer's Dictionary of Names, 1992, p34)Introns: Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.Diabetes Mellitus, Type 1: A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.HLA-C Antigens: Class I human histocompatibility (HLA) antigens encoded by a small cluster of structural genes at the C locus on chromosome 6. They have significantly lower immunogenicity than the HLA-A and -B determinants and are therefore of minor importance in donor/recipient crossmatching. Their primary role is their high-risk association with certain disease manifestations (e.g., spondylarthritis, psoriasis, multiple myeloma).H-2 Antigens: The major group of transplantation antigens in the mouse.DNA, Plant: Deoxyribonucleic acid that makes up the genetic material of plants.Receptors, KIR: A family of receptors found on NK CELLS that have specificity for a variety of HLA ANTIGENS. KIR receptors contain up to three different extracellular immunoglobulin-like domains referred to as D0, D1, and D2 and play an important role in blocking NK cell activation against cells expressing the appropriate HLA antigens thus preventing cell lysis. Although they are often referred to as being inhibitory receptors, a subset of KIR receptors may also play an activating role in NK cells.Biological Evolution: The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.Phenylketonurias: A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).Siberia: A region, north-central Asia, largely in Russia. It extends from the Ural Mountains to the Pacific Ocean and from the Arctic Ocean to central Kazakhstan and the borders of China and Mongolia.Inheritance Patterns: The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.Nuclear Family: A family composed of spouses and their children.Steroid 21-Hydroxylase: An adrenal microsomal cytochrome P450 enzyme that catalyzes the 21-hydroxylation of steroids in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. This enzyme, encoded by CYP21 gene, converts progesterones to precursors of adrenal steroid hormones (CORTICOSTERONE; HYDROCORTISONE). Defects in CYP21 cause congenital adrenal hyperplasia (ADRENAL HYPERPLASIA, CONGENITAL).Genome-Wide Association Study: An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.Tandem Repeat Sequences: Copies of DNA sequences which lie adjacent to each other in the same orientation (direct tandem repeats) or in the opposite direction to each other (INVERTED TANDEM REPEATS).JapanHaploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.Histocompatibility Testing: Identification of the major histocompatibility antigens of transplant DONORS and potential recipients, usually by serological tests. Donor and recipient pairs should be of identical ABO blood group, and in addition should be matched as closely as possible for HISTOCOMPATIBILITY ANTIGENS in order to minimize the likelihood of allograft rejection. (King, Dictionary of Genetics, 4th ed)Disease Susceptibility: A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases.

*  Dienekes' Anthropology Blog: Haplotype of Neandertal origin in OAS gene cluster...
Neandertal STAT2 haplotype in Eurasians *Introgression of archaic haplotype at OAS1 in ... This haplotype is nearly restricted to Eurasians and is estimated to have diverged from ... According to the paper the haplotype is restricted to Eurasians and is estimated to have ... According to the paper the haplotype is restricted to Eurasians and is estimated to have ......
http://dienekes.blogspot.com/2013/01/haplotype-of-neandertal-origin-in-oas.html?m=1
*  Plus it
Haplotype-phased synthetic long reads from short-read sequencing. James A Stapleton, ... Haplotype-phased synthetic long reads from short-read sequencing Message Subject (Your ... lengths of the dominant instruments complicate assembly of complex genomes and haplotype ......
http://biorxiv.org/content/early/2015/07/21/022897
*  Scientific data - Human Chromosome 21 Diversity
... the vast majority of human populations around the globe fall into only three haplotypes, ... Haplotype. A combination of Variant forms of a gene at a particular locus, or location, ... haplotypes.1 This limited degree of genetic diversity was unexpected for a species that, ......
http://godandscience.org/evolution/sld028.html
*  Dienekes' Anthropology Blog: SLC24A5 light skin pigmentation allele origin
The C11 haplotype was most likely created by a crossover between two haplotypes, followed ... The C11 haplotype was most likely created by a crossover between two haplotypes, followed ... The distributions of C11 and its parental haplotypes make it most likely that these two ... The two parental precursor haplotypes are found from East Asia to the Americas but are ......
http://dienekes.blogspot.com/2014/01/slc24a5-light-skin-pigmentation-allele.html?showComment=1389668148482
*  Genetic variant associations of human SP-A and SP-D with acute and chronic lung...
These include haplotypes SP-A2/SP-D: 1A1-Thr160 (rs2243639), 1A1-Met11 (rs721917)-Thr160 ... A significant association between SP-A1 6A3, SP-A2 1A1, or the combined haplotype 6A3/1A1 ... In this study, the 6A4 variant, and the 6A4/1A5 haplotype were protective for otitis ... Association of common haplotypes of surfactant protein A1 and A2 (SFTPA1 and SFTPA2) ......
http://pubmedcentralcanada.ca/pmcc/articles/PMC3635489/?lang=en-ca
*  Dienekes' Anthropology Blog: Tales of Neanderthal admixture in modern Eurasians
Why Y-STR haplotype clusters are not clades. Racial Type of the Ancient Hellenes. ... Haplotypes in the dystrophin DNA segment point to a mosaic origin of modern human ... Non-Africans haplotypes match Neandertals unexpectedly often. An alternative approach to ... To test this prediction, we identified 166 "tag SNPs" that separate 12 of the haplotype ......
http://dienekes.blogspot.com/2010/05/tales-of-neanderthal-admixture-in.html?showComment=1273418207244
*  Dienekes' Anthropology Blog: Ancient central European mtDNA across time (Brandt...
Why Y-STR haplotype clusters are not clades. Racial Type of the Ancient Hellenes. ... The map itself shows 17 different mt haplotypes. What we DON'T see is a big group of ......
http://dienekes.blogspot.com/2013/10/ancient-central-european-mtdna-across.html
*  Dienekes' Anthropology Blog: A Single Origin for Dogs South of Yangtze River,...
Why Y-STR haplotype clusters are not clades. Racial Type of the Ancient Hellenes. ... The mean sequence distance to ancestral haplotypes indicates an origin 5,400-16,300 years ... more haplotypes than the African one; the assertion by Boyko et al. (2009) is the result ... The haplotypes fall in the same parts of the MS networks as for other western populations ......
http://dienekes.blogspot.com/2009/09/single-origin-for-dogs-south-of-yangtze.html?showComment=1251942859448
*  Dienekes' Anthropology Blog: Ancestry Composition to be fixed
Why Y-STR haplotype clusters are not clades. Racial Type of the Ancient Hellenes. ... Haplotype of Neandertal origin in OAS gene cluster.... *Multiplex determination of eye ... This way, we ensure that AC was never trained using the haplotypes of the individual it ... AC is then able to recognize similar haplotypes and thus to predict the ancestry of other ......
http://dienekes.blogspot.com/2013/01/ancestry-composition-to-be-fixed.html
*  Earth Times: show/134722.html
... little of what our Neolithic cultures have given us through migrations and the haplotypes ......
http://earthtimes.org/articles/show/134722.html
*  Common variation in BRCA2 and breast cancer risk: a haplotype-based analysis in the Multiethnic Coho
... rt. Broad Institute of MIT and Harvard. Partnerships Philanthropy Careers Contact Us. What is Broad. Our Approach Areas of Focus History Leadership Who is Broad Partner Institutions Artist-in-Residence Media Center. Press Room News from the Broad Photos for Journalists Spotlight: Ebola Spotlight: CRISPR BroadMinded Blog Video Library For the Scientific Community. Scientific Publications Science Data Software. Scientific Publications Science Data Software. Home. News & Publications:Scientific Publications Common variation in BRCA2 and breast cancer risk: a haplotype-based analysis in the Multiethnic Cohort. Recent Broad Publications A non-synonymous single-nucleotide polymorphism associated with multiple sclerosis risk affects the EVI5 interactome. Read More / View Supplemental Materials An integrated map of structural variation in 2,504 human genomes. Read More / View Supplemental Materials Somatic mutation in single human neurons tracks developmental and transcriptional history. Read More / View Suppleme...
http://broadinstitute.org/publications/broad3752
*  Likelihood-Based Association Analysis for Nuclear Families and Unrelated Subjects with Missing Genot
... ype Data - FullText - Human Heredity 2008, Vol. Connecting the World of Biomedical Science. Journals. Books. Book Series. Complete Title Index. Collections. Collections Overview. eJournal Collection. eJournal Backfile Collection. eJournal Archive Collection. eBook Series Collection. eBook Non-Series Collection. eBook Collection German. eBook Archive Collection. Services. Services Subscriptions. Media Relations. Customer Service. Downloads Journals and Book Series Catalogue. Media Data. Customer Service Contact Form. Resources. Resources Authors. Media Relations. Contact Us Contact Information. Contact Form. Login with Facebook. Journal Contact. Journal Contact. Likelihood-Based Association Analysis for Nuclear Families and Unrelated Subjects with Missing Genotype Data Dudbridge F. MRC Biostatistics Unit, Cambridge, UK Corresponding Author Frank Dudbridge MRC Biostatistics Unit, Institute for Public Health Robinson Way, Cambridge CB2 0SR UK Tel. Satten GA, Epstein MP: Comparison of prospective and retrospe...
http://karger.com/Article/FullText/119108
*  Patent US7115726 - Haplotype structures of chromosome 21 - Google Patents
... Search Images Maps Play YouTube News Gmail Drive. More. Sign in. Advanced Patent Search. Patents. The present invention includes the use of any of the polymorphisms, SNP haplotype blocks or SNP haplotype patterns. In one embodiment, susceptibility to a phenotype resulting from an allele or marker in linkage disequilibrium with such polymorphic forms is evaluated. Novel therapeutic and diagnostic... http://www.google.com/patents/US7115726?utm source=gb-gplus-share Patent US7115726 - Haplotype structures of chromosome 21 Advanced Patent Search Publication number US7115726 B2. Publication type Grant. Application number US 10/227,195. Publication date Oct 3, 2006. Filing date Aug 22, 2002. Priority date Mar 30, 2001. Fee status Lapsed. Also published as US20030077633,. US20060234216. Publication number 10227195, 227195, US 7115726 B2, US 7115726B2, US-B2-7115726, US7115726 B2, US7115726B2. Inventors David R. Cox,. Deana A. Arnold. Original Assignee Perlegen Sciences, Inc. Export Citation BiBTeX,. EndNote,. R...
http://google.com/patents/US7115726?dq=6,460,050
*  CRAN Task View: Statistical Genetics
... The focus in this task view is on R packages implementing statistical methods and algorithms for the analysis of genetic data and for related population genetics studies. Population Genetics : genetics implements classes and methods for representing genotype and haplotype data, and has several functions for population genetic analysis e.g. functions for estimation and testing of Hardy-Weinberg and linkage disequilibria, etc. A few population genetics functions are also implemeted in gap. Phylogenetics : The Phylogenetics view has more detailed information, the most important packages are also mentioned here. Linkage : There are few native packages for performing parametric or non-parametric linkage analysis from within R itself, the calculations must be performed using external packages. qtl provides several functions and a data structure for QTL mapping, including a function scanone for genome-wide scans. gap is a package for genetic data analysis of both population and family data; it contains function...
http://cran.fhcrc.org/web/views/Genetics.html
*  Tagging SNP haplotype analysis of the secretory PLA2-V gene, PLA2G5, shows strong association with
... LDL and oxLDL levels, suggesting functional distinction from sPLA2-IIA: results from the UDACS study - UCL Discovery. UCL Discovery. UCL home » Library Services » Electronic resources » UCL Discovery Enter your search terms. Advanced search. Browse by:. Department. Year. UCL Theses. Latest. For everyone Open Access. About UCL Discovery. UCL Press. Statistics. FAQs. For UCL authors Deposit your research. UCL Publications Policy. REF 2020. How to deposit. Re-formatting deposits. Open Access funding. Funder requirements. UCL e-theses guidelines. Contact us. Bookmark Share. . Tagging SNP haplotype analysis of the secretory PLA2-V gene, PLA2G5, shows strong association with LDL and oxLDL levels, suggesting functional distinction from sPLA2-IIA: results from the UDACS study. Wootton, PTE ; Arora, NL ; Drenos, F ; Thompson, SR ; Cooper, JA ; Stephens, JW ; Hurel, SJ ;. Wootton, PTE ; Arora, NL ; Drenos, F ; Thompson, SR ; Cooper, JA ; Stephens, JW ; Hurel, SJ ; Hurt-Camejo, E ; Wiklund, O ; Humphries, SE ; Talm...
http://discovery.ucl.ac.uk/98605/
*  Tagging SNP haplotype analysis of the secretory PLA2-V gene, PLA2G5, shows strong association with
... LDL and oxLDL levels, suggesting functional distinction from sPLA2-IIA: results from the UDACS study - UCL Discovery. UCL Discovery. UCL home » Library Services » Electronic resources » UCL Discovery Enter your search terms. Advanced search. Browse by:. Department. Year. UCL Theses. Latest. For everyone Open Access. About UCL Discovery. UCL Press. Statistics. FAQs. For UCL authors Deposit your research. UCL Publications Policy. REF 2020. How to deposit. Re-formatting deposits. Open Access funding. Funder requirements. UCL e-theses guidelines. Contact us. Bookmark Share. . Tagging SNP haplotype analysis of the secretory PLA2-V gene, PLA2G5, shows strong association with LDL and oxLDL levels, suggesting functional distinction from sPLA2-IIA: results from the UDACS study. Wootton, PTE ; Arora, NL ; Drenos, F ; Thompson, SR ; Cooper, JA ; Stephens, JW ; Hurel, SJ ;. Wootton, PTE ; Arora, NL ; Drenos, F ; Thompson, SR ; Cooper, JA ; Stephens, JW ; Hurel, SJ ; Hurt-Camejo, E ; Wiklund, O ; Humphries, SE ; Talm...
http://discovery.ucl.ac.uk/83272/
*  CRAN Task View: Statistical Genetics
The focus in this task view is on R packages implementing statistical methods and algorithms for the analysis of genetic data and for related population genetics studies. Population Genetics : genetics implements classes and methods for representing genotype and haplotype data, and has several functions for population genetic analysis e.g. Linkage : There are few native packages for performing parametric or non-parametric linkage analysis from within R itself, the calculations must be performed using external packages. However, there are a number of ancillary R packages that facilitate interface with these stand-alone programs and using the results for further analysis and presentation. PLINK is a C++ program for genome wide linkage analysis that supports R-based plug-ins via Rserve allowing users to utilise the rich suite of statistical functions in R for analysis. gap is a package for genetic data analysis of both population and family data; it contains functions for sample size calculations, probability of...
http://cran.repo.bppt.go.id/web/views/Genetics.html
*  Category:HLA-DR haplotypes
category hla dr haplotypes category hla dr haplotypes this category page is for hla dr haplotypes placement is according to broad antigen so that dr and dr split antigens fall under the cognate dr broad antigen r h...
https://en.wikipedia.org/wiki/Category:HLA-DR_haplotypes
*  Georg-August-Universität Göttingen - HAPLOTYPE ANALYSIS: Software for Analysis of Haplotype Data -
Georg-August-Universit t G ttingen - HAPLOTYPE ANALYSIS: Software for Analysis of Haplotype Data - version 1.05 -. . Forest Genetics and Forest Tree Breeding Staff. Research. Courses. Publications. Projects. Downloads. Aktuelles. How to find us. Links. Current page:. Search. Deutsch. Homepage. Downloads. Software. ....
http://uni-goettingen.de/en/134935.html
*  Haplotype analysis
... martin collinson mcollinson at lab vet ed ac uk fri dec est previous message oligodt cellulose next message nt hnt cell question messages sorted by we have received data from a backcross mapping how do we go about doing a haplotype analysis i e comparing our gene with two marker genes thanks in advance for any help martin collinson mcollinson at lab vet ed ac uk previous message oligodt cellulose next message nt hnt cell question messages sorted by more information about the methods mailing list...
http://bio.net/bionet/mm/methods/1996-December/052248.html
*  RootsWeb: GENEALOGY-DNA-L Re: [DNA] YCAII values
RootsWeb: GENEALOGY-DNA-L Re: YCAII values. GENEALOGY-DNA-L Archives Archiver > GENEALOGY-DNA > 2008-01 > 1199673320. From: George Kelly. Subject: Re: YCAII values Date: Sun, 6 Jan 2008 20:35:20 -0600 References: 5653079.66931199672162613.JavaMail.www@wwinf2621. Didier: What is the usual R1b YCAII a,b Mine are 19,23 and what is the usual DYS385a,b Mine are11,14. I am listed as R1b1c; ySearch ID = GXJEB Celtic ancestors because DYS393 = 13 Pict ancestors because DYS391=11, DYS385a = 11, Dys 385b = 14 DYS389ii = 29 Gaelic ancestors because DYS390 = 25 I have a Y-37 marker test with 409 matches but not one 1 25 or more marker match., but 96 one-mutation matches. It seems that I most closely match the Welsh haplotype markers, not R1b1c9a or b nor R1b1c10. My paper trail; 5th Ggrandfather = Timahoe, Kilddare, Ireland to USA in 1752, Pedigree on ySearch GXJEB. George. ----- Original Message ----- From: Didier VERNADE. To:. Cc:. Sent: Sunday, January 06, 2008 8:16 PM Subject: Re: YCAII values. List,. I already poste...
http://newsarch.rootsweb.com/th/read/GENEALOGY-DNA/2008-01/1199673320
*  Common genetic variants on chromosome 9p21 confers risk of ischemic stroke: a large-scale genetic as
... sociation study. Partnerships Philanthropy Careers Contact Us. Our Approach Areas of Focus History Leadership Who is Broad Partner Institutions Artist-in-Residence Media Center. Press Room News from the Broad Photos for Journalists Spotlight: Ebola Spotlight: CRISPR BroadMinded Blog Video Library For the Scientific Community. Scientific Publications Science Data Software. Scientific Publications Science Data Software. News & Publications:Scientific Publications Common genetic variants on chromosome 9p21 confers risk of ischemic stroke: a large-scale genetic association study. Read More / View Supplemental Materials Linking RNA biology to lncRNAs. Read More / View Supplemental Materials Ethanol Enhances TGF-β Activity by Recruiting TGF-β Receptors from Intracellular Vesicles/Lipid Rafts/Caveolae to Non-lipid Raft Microdomains. Read More / View Supplemental Materials American Diabetes Association and JDRF Research Symposium: Diabetes and the Microbiome. Read More / View Supplemental Materials. Scientific Pu...
https://broadinstitute.org/publications/broad3337
*  Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: No association with Graves' dise
Use of Tag single nucleotide polymorphisms SNPs to screen PTPN21: No association with Graves' disease - ResearchGate. Article Use of Tag single nucleotide polymorphisms SNPs to screen PTPN21: No association with Graves' disease. Impact Factor: 3.46. ABSTRACT The protein-tyrosine-phosphate nonreceptor 22 gene PTPN22 has recently been identified as a susceptibility locus for a number of autoimmune diseases including Graves' disease GD. The aim of this study was to determine whether PTPN21 is acting as a GD susceptibility locus in UK Caucasian subjects. A case control association study of seven Tag single nucleotide polymorphisms SNPs rs1469602, rs8007288, rs1998670, rs11622270, rs2274736, rs2295136 and rs366476 selected to predict 51 un-genotyped polymorphisms present within PTPN21. No association of any of the seven Tag SNPs was detected with GD. Preliminary evidence of association of rs2274736 was found with younger age of GD onset 0-30 years OR = 1. Using a Tag SNP approach we screened PTPN21 as a suscep...
http://researchgate.net/publication/6869124_Use_of_Tag_single_nucleotide_polymorphisms_(SNPs)_to_screen_PTPN21_no_association_with_Graves'_disease
*  Unbound MEDLINE : An association study of single nucleotide polymorphisms of the FOXP3 intron-1 and
... the risk of Psoriasis vulgari. Genetic Predisposition to Disease. An association study of single Unbound MEDLINE. An association study of single nucleotide polymorphisms of the FOXP3 intron-1 and the risk of Psoriasis vulgaris. To elucidate the association between the FOXP3 gene and the risk of PV, 408 patients diagnosed with PV and 363 age and sex-matched healthy controls from a cohort of the Chinese majority Han population were recruited. Four single nucleotide polymorphisms rs2232365, rs3761547, rs3761548 and rs3761549 of the FOXP3 gene were analyzed using the polymerase chain reaction and ligase detection reaction. The major allele of three single nucleotide polymorphisms SNPs - rs2232365 A, rs3761547 A and rs3761549 C were associated with an increased risk of PV in a clinical subgroup of female patients, who were less than 40 yrs of age, had a family history of the disease and did not have disease complications p 0.05 for all parameters. Therefore, the FOXP3 polymorphisms appear to contribute to the...
http://unboundmedicine.com/medline/citation/22435141/abstract/An_association_study_of_single_nucleotide_polymorphisms_of_the_FOXP3_intron_1_and_the_risk_of_Psoriasis_vulgaris_
*  WT1 mutations and single nucleotide polymorphism rs16754 analysis of patients with pediatric acute m
... yeloid leukemia in a Chinese population - ResearchGate. For full functionality of ResearchGate it is necessary to enable JavaScript. Here are the instructions how to enable JavaScript in your web browser. Article WT1 mutations and single nucleotide polymorphism rs16754 analysis of patients with pediatric acute myeloid leukemia in a Chinese population. Xi Chen. Xi Chen. Remove suggestion. Yongchen Yang. Yongchen Yang Fudan University Message author. Remove suggestion. Yi Huang. Yi Huang. Remove suggestion. Junjie Tan. Junjie Tan. Remove suggestion. Yuanyuan Chen. Yuanyuan Chen. Remove suggestion. Jing Yang. Jing Yang. Remove suggestion. Center for Clinical Molecular Medicine, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Children's Hospital, Chongqing Medical University, Chongqing, China. Leukemia lymphoma. Impact Factor: 2.89. 04/2...
http://researchgate.net/publication/224050693_WT1_mutations_and_single_nucleotide_polymorphism_rs16754_analysis_of_patients_with_pediatric_acute_myeloid_leukemia_in_a_Chinese_population
*  Identification of TRIM22 single nucleotide polymorphisms ass... : AIDS
Identification of TRIM22 single nucleotide polymorphisms ass... Enter your Email address:. Wolters Kluwer Health may email you for journal alerts and information, but is committed to maintaining your privacy and will not share your personal information without your express consent. AIDS Wolters Kluwer Health Logo. Identification of TRIM22 single nucleotide polymorphisms ass... Identification of TRIM22 single nucleotide polymorphisms associated with loss of inhibition of HIV-1 transcription and advanced HIV-1 disease Ghezzi, Silvia a ; Galli, Laura b ; Kajaste-Rudnitski, Anna a ; Turrini, Filippo a ; Marelli, Sara a ; Toniolo, Daniela c ; Casoli, Claudio d,e ; Riva, Agostino d ; Poli, Guido f,g ; Castagna, Antonella b ; Vicenzi, Elisa a. Objective s : Tripartite motif-containing 22 TRIM22 is an interferon-induced protein that inhibits HIV-1 transcription and replication in vitro. Two single nucleotide missense polymorphisms rs7935564A/G SNP-1 and rs1063303C/G SNP-2 characterize the coding sequence of human TRI...
http://journals.lww.com/aidsonline/Abstract/2013/09240/Identification_of_TRIM22_single_nucleotide.2.aspx
*  RePub, Erasmus University Repository: Evaluation of functional single nucleotide polym
... orphisms of different genes coding for the immunoregulatory molecules in patients with monoclonal large granular lymphocyte lymphocytosis. Erasmus Research Institute of Management ERIM. Rotterdam School of Management RSM. Erasmus MC: University Medical Center Rotterdam. Erasmus School of Law. International Institute of Social Studies ISS. Erasmus MC: University Medical Center Rotterdam /. Human Immunology /. Evaluation of functional single nucleotide polymorphisms of different genes coding for the immunoregulatory molecules in patients with monoclonal large granular lymphocyte lymphocytosis Human Immunology, Volume 69 - Issue 2 p. TCRαβ+/CD4+T-large granular lymphocyte LGL lymphocytosis is a subgroup of monoclonal T-LGL lymphoproliferative disorders that are different from the CD8+TCRαβT-LGL. Overall, 38 patients with CD4+T-LGL were analyzed and compared with a group of both CD8+/TCRαβ+T-LGL patients n = 43 and a group of control subjects n = 176. Our results did not show any clear association between the...
http://repub.eur.nl/pub/29361/
*  ORBi: D'Onofrio Mara - The interplay of two single nucleotide polymorphisms in the CACNA1A gene may
... contribute to migraine susceptibility. Reference : The interplay of two single nucleotide polymorphisms in the CACNA1A gene may contribu... To cite this reference: http://hdl.handle.net/2268/23519. Title : The interplay of two single nucleotide polymorphisms in the CACNA1A gene may contribute to migraine susceptibility. Author, co-author : D'Onofrio, Mara. Keywords : Calcium Channels/genetics ; DNA Mutational Analysis ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Humans ; Male ; Migraine with Aura/genetics ; Polymorphism, Single Nucleotide. BM and HM may thus share common genetic features. In the present study, two single nucleotide polymorphisms SNPs of the CACNA1A gene were characterized in a population of migraine patients and healthy controls. The polymorphisms, E918D, predicting a glutamic acid-to-aspartic acid substitution at codon 918 and E993V, predicting a glutamic acid-to-valine substitution at codon 993, were frequently detected among patients and controls. Seven BM, 10 SHM, ...
http://orbi.ulg.ac.be/handle/2268/23519
*  ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis
... of β-thalassaemia : Clinical Chemistry and Laboratory Medicine. Multi-Volume Works. Clinical Chemistry and Laboratory Medicine CCLM. Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine EFLM. 12 Issues per year. IMPACT FACTOR 2014: 2.707 Rank 6 out of 30 in category Medical Laboratory Technology in the 2014 Thomson Reuters Journal Citation Report/Science Edition SCImago Journal Rank SJR 2014: 0.741 Source Normalized Impact per Paper SNIP 2014: 1.011 Impact per Publication IPP 2014: 2.310. Issue Journal/Yearbook. Volume. Issue. Issues. Volume 53 2015. Issue 10 Sep 2015, pp. 1481-1653 Issue 9 Aug 2015, pp. Issue 8 Jul 2015, pp. 1127-1296 Issue s1 Jun 2015. Issue 7 Jun 2015, pp. 959-1125 Issue 6 May 2015, pp. 829-958 Special issue: 1st EFL... Issue 5 Apr 2015, pp. Congress of Clinical Chemistry and Laboratory Medicine / 10th Annual Meeting of the German Society for Clinical Chemistry and Laboratory Medicine DGKL, Dresden, Germany, 23rd–26th October, 2013*. Thal...
http://degruyter.com/dg/viewarticle/j$002fcclm.2010.48.issue-12$002fcclm.2010.331$002fcclm.2010.331.xml
*  A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitiz
... ation and their interaction with birth order - ResearchGate. Article A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order. We sought to identify common genetic variant associations with prevalent AR and grass sensitization using existing genome-wide association study GWAS data and to determine whether genetic variants modify the protective effect of older siblings. This relatively large meta-analysis of GWASs identified few loci associated with AR and grass sensitization. Among the 17 loci previously identified by GWAS as associated with allergic rhinitis, four were associated with allergic rhinitis with P value ≤ 0.05 in our study Additional file 8: Table S3. Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis. 6 of the 22 GWAS loci with P-value ≤ 1x10−6 tagged one particular coexpression module 4.0-fold enri...
http://researchgate.net/publication/51755456_A_genome-wide_meta-analysis_of_genetic_variants_associated_with_allergic_rhinitis_and_grass_sensitization_and_their_interaction_with_birth_order
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Text Cloud for Chromosome. Text Cloud for Tissue Expression. Text Cloud for GO Term. cGMP binding 1. integral to plasma membrane 1. intracellular cGMP activated cation channel activity 1. ion channel activity 1. nucleotide binding 1. Text Cloud for KEGG Path PharmGKB Reported Association. Text Cloud for PharmGKB Drug Response Association mSigDB Pathway. Text Cloud for OMIM Term. Achromatopsia-3, 1. Text Cloud for GAD Term. achromatopsia 1. cGMP binding integral to plasma membrane intracellular cGMP activated cation...
http://pfs.nus.edu.sg/(S(3btkptgjenrz22bc2uqgbxhj))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=54714
*  Linkage and Association Analyses of Microsatellites and Single-Nucleotide Polymorphisms in Nuclear F
... amilies. Linkage and Association Analyses of Microsatellites and Single-Nucleotide Polymorphisms in Nuclear Families. Linkage and Association Analyses of Microsatellites and Single-Nucleotide Polymorphisms in Nuclear Families. Linkage and Association Analyses of Microsatellites and Single-Nucleotide Polymorphisms in Nuclear Families. ; Liu, Kuang-Yu Note: Order does not necessarily reflect citation order of authors. Linkage and association analyses of microsatellites and single-nucleotide polymorphisms in nuclear families. Several simulation studies have suggested that a high-density single-nucleotide polymorphisms SNPs marker set may be as useful as a traditional microsatellites MS marker set in performing whole-genome linkage analysis. In the present study, we compared the linkage results from the SNPs-based scan with a map density of 3-cM spacing with those from the MS scan using a 10-cM marker set among 300 nuclear families each from the Aipotu AI, Danacaa DA, and Karangar KA populations from the simu...
http://dash.harvard.edu/handle/1/4734538
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Text Cloud for Tissue Expression. Brain 1. SuperiorCervicalGanglion 1. UterusCorpus 1. Text Cloud for GO Term KEGG Path. Text Cloud for KEGG Path PharmGKB Reported Association. Text Cloud for PharmGKB Drug Response Association mSigDB Pathway. Text Cloud for mSigDB Pathway OMIM. Text Cloud for GAD Term. View SNP in this gene C4orf30 FLJ20280 MGC126765 MGC126767. Adipocyte AdrenalCortex Appendix Blood Leukemia Bonemarrow Brain Colon FetalBrain FetalLiver FetalLung FetalThyroid HBEC Heart Kidney Liver Lung LymphNode L...
http://pfs.nus.edu.sg/(S(jtzqqndbf1e1dgytlsvh4ylb))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=54876
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Text Cloud for Tissue Expression GO Term. Text Cloud for GO Term. protein amino acid dephosphorylation 1. protein tyrosine phosphatase activity 1. KEGG Path. Text Cloud for KEGG Path PharmGKB Reported Association. Text Cloud for PharmGKB Drug Response Association mSigDB Pathway. Text Cloud for mSigDB Pathway. HSC HSCANDPROGENITORS ADULT 1. HSC HSCANDPROGENITORS FETAL 1. HSC HSCANDPROGENITORS SHARED 1. Text Cloud for OMIM Term GAD. Text Cloud for GAD Term. View SNP in this gene PTPN20A MGC142033 bA142I17.1. phosphor...
http://pfs.nus.edu.sg/(S(2ak4vbznkj2jwhwqo40tonpo))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=653129
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Text Cloud for Tissue Expression. Brain 1. SkeletalMusclePsoas 1. SpinalCord 1. SuperiorCervicalGanglion 1. Text Cloud for GO Term. Text Cloud for KEGG Path PharmGKB Reported Association. Text Cloud for PharmGKB Drug Response Association mSigDB Pathway. Text Cloud for mSigDB Pathway. Text Cloud for OMIM Term. Text Cloud for GAD Term. View SNP in this gene RPGRIP1 CORD9 DKFZp686P0897 LCA6 RGI1 RGRIP RPGRIP RPGRIP1d. Adipocyte AdrenalCortex Blood Leukemia Bonemarrow Brain Colon FetalBrain FetalLiver FetalLung FetalTh...
http://pfs.nus.edu.sg/(S(ytusuuxh5jtqa3vbnskslf20))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=57096
*  PMID:18594024
PUBLICATIONS. FEEDBACK. SIGN IN. Pharmacogenomics. Overview. SAB. History. CPIC. CPIC. Genes/Drugs. Alleles. Members. Search. Search. Genes. Drugs. Diseases. Pathways. Bisphosphonate-related osteonecrosis of the jaw is associated with polymorphisms of the cytochrome P450 CYP2C8 in multiple myeloma: a genome-wide single nucleotide polymorphism analysis by Sarasquete Maria E, García-Sanz Ramon, Marín Luis, Alcoceba Miguel, Chillón Maria C, Balanzategui Ana, Santamaria Carlos, Rosiñol Laura, de la Rubia Javier, Hernandez Miguel T, Garcia-Navarro Inmaculada, Lahuerta Juan J, González Marcos, San Miguel Jesus F in Blood 2008. We have explored the potential role of genetics in the development of osteonecrosis of the jaw ONJ in multiple myeloma MM patients under bisphosphonate therapy. A genome-wide association study was performed using 500 568 single nucleotide polymorphisms SNPs in 2 series of homogeneously treated MM patients, one with ONJ 22 MM cases and another without ONJ 65 matched MM controls. Four SNPs rs19...
https://pharmgkb.org/pmid/18594024
*  Single Nucleotide Polymorphism - SNPedia
... Toggle navigation. SNPedia. Visit https://www.reddit.com/r/SNPedia. Single Nucleotide Polymorphism From SNPedia Redirected from SNP Jump to: navigation , search. A Single Nucleotide Polymorphism is also known as a SNP or snp pronounced 'snip'. The importance of SNPs comes from their ability to influence disease risk, drug efficacy and side-effects, tell you about your ancestry, and predict aspects of how you look and even act. SNPs are probably the most important category of genetic changes influencing common diseases. And in terms of common diseases, 9 of the top 10 leading causes of death have a genetic component and thus most likely one or more SNPs influence your risk. DNA SNPs Genetics 101 Part 2: What are SNPs. But at certain locations there are differences - these variations are called polymorphisms. Polymorphisms are what make individuals different from one another. While many variations SNPs are known, most have no known effect and may be of little or no importance. The emphasis in SNPedia is on...
http://snpedia.com/index.php/SNP
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 6 1. Tissue Expression. Text Cloud for Tissue Expression. Blood Leukemia 1. Bonemarrow 1. Colon 1. HBEC 1. Prostate 1. Salivarygland 1. SuperiorCervicalGanglion 1. T cells 1. Thymus 1. Tonsil 1. UterusCorpus 1. GO Term. Text Cloud for GO Term KEGG Path. Text Cloud for KEGG Path PharmGKB Reported Association. Text Cloud for PharmGKB Drug Response Association mSigDB Pathway. Text Cloud for mSigDB Pathway. HADDAD HPCLYMPHO ENRICHED 1. HADDAD HSC CD10 UP 1. HASLINGER ...
http://pfs.nus.edu.sg/(S(moxkwigjrxtyc3p2vcfit4rp))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=8346
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 22 1. Tissue Expression. Text Cloud for Tissue Expression. Blood Leukemia 1. Bonemarrow 1. Brain 1. Colon 1. FetalLiver 1. FetalLung 1. FetalThyroid 1. HBEC 1. Heart 1. Liver 1. Lung 1. LymphNode 1. Pancreas 1. Prostate 1. SmoothMuscle 1. T cells 1. Testis 1. Thymus 1. Thyroid 1. Tonsil 1. Trachea 1. UterusCorpus 1. WholeBlood JJV 1. GO Term. Text Cloud for GO Term. hydrolase activity 1. membrane 1. KEGG Path. Text Cloud for KEGG Path PharmGKB Reported Association...
http://pfs.nus.edu.sg/(S(jcj2vq41rcsjr1d15smekd51))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=23753
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 10 1. Tissue Expression. Text Cloud for Tissue Expression. Adipocyte 1. AdrenalCortex 1. Blood Leukemia 1. Bonemarrow 1. Brain 1. Colon 1. FetalBrain 1. FetalLiver 1. FetalLung 1. HBEC 1. Heart 1. Lung 1. LymphNode 1. LymphNode/Spleen 1. Nose/Brain 1. Pancreas 1. Prostate 1. SmoothMuscle 1. Testis 1. Thymus 1. Thyroid 1. Tongue 1. Tonsil 1. TrigeminalGanglion 1. UterusCorpus 1. WholeBlood JJV 1. GO Term. Text Cloud for GO Term. intracellular 1. mRNA processing 1. ...
http://pfs.nus.edu.sg/(S(gqsakss4maalmhat2pj4tawv))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=84991
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 15 1. Tissue Expression. Text Cloud for Tissue Expression. Adipocyte 1. AdrenalCortex 1. Appendix 1. Blood Leukemia 1. Bonemarrow 1. Brain 1. Colon 1. FetalBrain 1. FetalLiver 1. FetalLung 1. FetalThyroid 1. HBEC 1. Heart 1. Kidney 1. Liver 1. Lung 1. LymphNode 1. LymphNode/Spleen 1. Nose/Brain 1. Ovary 1. Pancreas 1. Prostate 1. Salivarygland 1. SmoothMuscle 1. SpinalCord 1. SuperiorCervicalGanglion 1. T cells 1. Testis 1. Thymus 1. Thyroid 1. Tongue 1. Tonsil 1....
http://pfs.nus.edu.sg/(S(ihuxckvolbc3hwcfbufjvnwp))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=9990
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 19 1. Tissue Expression. Text Cloud for Tissue Expression. Brain 1. FetalBrain 1. SpinalCord 1. GO Term. Text Cloud for GO Term. beta-catenin binding 1. catenin complex 1. microtubule binding 1. protein binding 1. protein complex assembly 1. regulation of progression through cell cycle 1. signal transduction 1. Wnt receptor signaling pathway 1. KEGG Path. Text Cloud for KEGG Path. Basal cell carcinoma 1. Colorectal cancer 1. Endometrial cancer 1. Regulation of act...
http://pfs.nus.edu.sg/(S(0fjsxff4khsrcdzd14moyyzt))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=10297
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 2 1. Tissue Expression. Text Cloud for Tissue Expression. FetalLiver 1. FetalLung 1. FetalThyroid 1. Lung 1. Thyroid 1. GO Term. Text Cloud for GO Term. extracellular space 1. lipid metabolic process 1. lysosome 1. organ morphogenesis 1. proteinaceous extracellular matrix 1. regulation of liquid surface tension 1. respiratory gaseous exchange 1. sphingolipid metabolic process 1. KEGG Path. Text Cloud for KEGG Path PharmGKB Reported Association. Text Cloud for Phar...
http://pfs.nus.edu.sg/(S(vmz0xnpiclru1a0uaelhz4yg))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=6439
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 4 1. Tissue Expression. Text Cloud for Tissue Expression. Blood Leukemia 1. Brain 1. Colon 1. FetalBrain 1. FetalLung 1. FetalThyroid 1. Heart 1. Kidney 1. Lung 1. LymphNode/Spleen 1. Nose/Brain 1. Pancreas 1. Prostate 1. SkeletalMusclePsoas 1. SmoothMuscle 1. SpinalCord 1. T cells 1. Testis 1. Thymus 1. Thyroid 1. Tongue 1. GO Term. Text Cloud for GO Term. adenine transmembrane transporter activity 1. binding 1. generation of precursor metabolites and energy 1. i...
http://pfs.nus.edu.sg/(S(1ffdk1u5fgtkcwbrpjyk5naq))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=291
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 14 1. Tissue Expression. Text Cloud for Tissue Expression GO Term. Text Cloud for GO Term. embryonic skeletal morphogenesis 1. epithelial cell differentiation 1. inner ear morphogenesis 1. myoblast migration 1. nucleus 1. pattern specification process 1. protein binding 1. regulation of neuron differentiation 1. regulation of transcription, DNA-dependent 1. sensory perception of sound 1. sequence-specific DNA binding 1. striated muscle development 1. thymus develo...
http://pfs.nus.edu.sg/(S(otjlftbvcitznmx4ksbz5wbk))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=6495
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 12 1. Tissue Expression. Text Cloud for Tissue Expression. Adipocyte 1. AdrenalCortex 1. Appendix 1. Blood Leukemia 1. Bonemarrow 1. Brain 1. Colon 1. FetalBrain 1. FetalLiver 1. FetalLung 1. FetalThyroid 1. HBEC 1. Heart 1. Kidney 1. Liver 1. Lung 1. LymphNode 1. LymphNode/Spleen 1. Nose/Brain 1. Ovary 1. Pancreas 1. Prostate 1. Salivarygland 1. SmoothMuscle 1. SpinalCord 1. T cells 1. Testis 1. Thymus 1. Thyroid 1. Tongue 1. Tonsil 1. Trachea 1. TrigeminalGangli...
http://pfs.nus.edu.sg/(S(wsciynekpyl1hfophx4wctwb))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=1337
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. X 1. Tissue Expression. Text Cloud for Tissue Expression. Adipocyte 1. FetalLung 1. FetalThyroid 1. HBEC 1. Kidney 1. Lung 1. Pancreas 1. Prostate 1. Salivarygland 1. Thyroid 1. Trachea 1. GO Term. Text Cloud for GO Term. amine oxidase activity 1. behavior 1. catecholamine metabolic process 1. dopamine catabolic process 1. electron transport 1. integral to membrane 1. membrane 1. mitochondrion 1. oxidoreductase activity 1. protein binding 1. KEGG Path. Text Cloud ...
http://pfs.nus.edu.sg/(S(ucladbo0uistoaothyaffwmx))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=4128
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 22 1. Tissue Expression. Text Cloud for Tissue Expression. Adipocyte 1. AdrenalCortex 1. Appendix 1. Blood Leukemia 1. Bonemarrow 1. Brain 1. Colon 1. FetalBrain 1. FetalLiver 1. FetalLung 1. FetalThyroid 1. HBEC 1. Heart 1. Kidney 1. Liver 1. Lung 1. LymphNode 1. LymphNode/Spleen 1. Nose/Brain 1. Ovary 1. Pancreas 1. Prostate 1. Salivarygland 1. SmoothMuscle 1. SpinalCord 1. SuperiorCervicalGanglion 1. T cells 1. Testis 1. Thymus 1. Thyroid 1. Tongue 1. Tonsil 1....
http://pfs.nus.edu.sg/(S(33jo1rvwerzaewzhxugnlapw))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=8398
*  BMC Genetics | Abstract | Effects of single nucleotide polymorphism marker density on degree of gene
bmc genetics abstract effects of single nucleotide polymorphism marker density on degree of genetic variance explained and genomic evaluation for carcass traits in japanese black beef cattle biomedcentral com bmcgenet article bottom top biomed central journals gateways search bmc genetics biomed central for go advanced search home articles authors reviewers about this journal my bmc genetics bmc genetics complex traits and quantitative genetics volume viewing options abstract full text pdf kb epub kb associated material pubmed record article metrics open badges readers comments related literature cited by google blog search other articles by authors on google scholar ogawa s matsuda h taniguchi y watanabe t nishimura s sugimoto y iwaisaki h on pubmed ogawa s matsuda h taniguchi y watanabe t nishimura s sugimoto y iwaisaki h related articles pages on google on google scholar on pubmed tools download references download xml order reprints post a comment download to papers mendeley download to papers mendeley sh...
http://biomedcentral.com/1471-2156/15/15/abstract
*  Minnesota Supercomputing Institute - Tutorial Details: Single Nucleotide Polymorphisms (SNP) Assoc
minnesota supercomputing institute tutorial details single nucleotide polymorphisms snp associations analysis using helixtree software campuses twin cities crookston duluth morris rochester other locations university relations http www umn edu urelate myu onestop minnesota supercomputing institute log out of mymsi tutorial details single nucleotide polymorphisms snp associations analysis using helixtree software date thursday april pm pm location walter instructor s wayne xu msi single nucleotide polymorphisms snp make individuals different color susceptibility to diseases productivity etc however there are millions of snps in humans which snps are associated with particular phenotypes helixtree is a powerful software tool for studying snp association with disease or drug response it also analyzes single marker and haplotype calculates ld and hwe identifies tagging snps and more in this tutorial we will walk through this software using sample data level prerequisites genetics...
https://msi.umn.edu/tutorial/302
*  BMC Genomics | Full text | Identification of genome-wide single nucleotide polymorphisms in allopoly
bmc genomics full text identification of genome wide single nucleotide polymorphisms in allopolyploid crop brassica napus biomedcentral com bmcgenomics article bottom top biomed central journals gateways search bmc genomics biomed central for go advanced search home articles authors reviewers about this journal my bmc genomics top abstract background results discussion conclusions methods competing interests authors contributions acknowledgements references bmc genomics plant genomics volume viewing options abstract full text pdf mb epub kb associated material pubmed record article metrics open badges ...
http://biomedcentral.com/1471-2164/14/717
*  Critical Care | Full text | TNFalpha promoter single nucleotide polymorphisms may influence gene exp
critical care full text tnfalpha promoter single nucleotide polymorphisms may influence gene expression in patients with severe sepsis ccforum com article cc bottom top biomed central journals gateways search critical care biomed central for go advanced search home articles authors reviewers about this journal my critical care top introduction methods results conclusion critical care volume suppl viewing options full text pdf mb associated material article metrics open badges readers comments related literature cited by google blog search other articles by authors on google scholar odwyer m white m mcmanus r ryan t related articles pages on google on google scholar tools download references download xml order reprints post a comment download to papers mendeley download to papers mendeley share this article tweet more options citeulike linkedin del icio us email...
http://ccforum.com/content/11/S2/P448
*  Twelve-Single Nucleotide Polymorphism Genetic Risk Score Identifies Individuals at Increased Risk fo
... r Future Atrial Fibrillation and Stroke. Partnerships Philanthropy Careers Contact Us. Our Approach Areas of Focus History Leadership Who is Broad Partner Institutions Artist-in-Residence Media Center. Press Room News from the Broad Photos for Journalists Spotlight: Ebola Spotlight: CRISPR BroadMinded Blog Video Library For the Scientific Community. Scientific Publications Science Data Software. Scientific Publications Science Data Software. News & Publications:Scientific Publications Twelve-Single Nucleotide Polymorphism Genetic Risk Score Identifies Individuals at Increased Risk for Future Atrial Fibrillation and Stroke. Read More / View Supplemental Materials Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores. Read More / View Supplemental Materials Ethanol Enhances TGF-β Activity by Recruiting TGF-β Receptors from Intracellular Vesicles/Lipid Rafts/Caveolae to Non-lipid Raft Microdomains. Read More / View Supplemental Materials American Diabetes Association and JDRF Research S...
https://broadinstitute.org/publications/broad5991
*  Association study of the single nucleotide polymorphisms in adiponectin-associated genes with type 2
... diabetes in Han Chinese - ResearchGate. For full functionality of ResearchGate it is necessary to enable JavaScript. Here are the instructions how to enable JavaScript in your web browser. Article Association study of the single nucleotide polymorphisms in adiponectin-associated genes with type 2 diabetes in Han Chinese. Yabing Wang. Yabing Wang Xuanwu hospital Message author. Remove suggestion. Di Zhang. Di Zhang. Remove suggestion. Yun Liu. Yun Liu Chinese Academy of Sciences Message author. Remove suggestion. Yifeng Yang. Yifeng Yang. Remove suggestion. Teng Zhao. Teng Zhao. Remove suggestion. Jie Xu. Jie Xu China University of Mining Technology Message author. Remove suggestion. Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China. Journal of Genetics and Genomics. Impact Factor: 3.59. 07/2009; 36 7 :417-23. DOI: 10.1016/S1673-8527 08 60131-9 Source: PubMed. ABSTRACT Single-nucleotide polymorphisms SNPs of ADIPOQ, ADIPOR1...
http://researchgate.net/publication/26695045_Association_study_of_the_single_nucleotide_polymorphisms_in_adiponectin-associated_genes_with_type_2_diabetes_in_Han_Chinese
*  High-resolution whole-genome association study of Parkinson disease. | ALZFORUM
High-resolution whole-genome association study of Parkinson disease. ALZFORUM. Jump to the Navigation Menu. Login to My AlzForum. Jump to the Search form. Paper. Tools Email. Share. How would you like to share. Facebook Twitter LinkedIn Back to the Top. Maraganore DM, de Andrade M, Lesnick TG, Strain KJ, Farrer MJ, Rocca WA, Pant PV, Frazer KA, Cox DR, Ballinger DG. High-resolution whole-genome association study of Parkinson disease. Am J Hum Genet. 2005 Nov;77 5 :685-93. PubMed. Recommends Please login to recommend the paper. Comments Make a Comment Comments on this Paper Andrew Singleton National Institutes of Health. Posted: 19 Apr 2006. The publication of this first genome-wide single nucleotide polymorphism SNP association study in Parkinson disease PD has created considerable debate in the field. The most public parts of this discussion include four follow-up articles Clarimon et al., 2006; Farrer et al., 2006; Li et al., 2006; and Gorris et al., 2006 and a short introductory piece Myers, 2006, all curr...
http://alzforum.org/papers/high-resolution-whole-genome-association-study-parkinson-disease
*  Genizon BioSciences Inc Licenses Crohns Disease GeneMap To Genentech Inc Results Of Whole Genome
... Association Study To Be Used To Support Development Of. Post Jobs. Jobs. Career Fairs. Company Profiles. Search Life Sciences Jobs. News by Disease. Search News. Genizon BioSciences Inc. Licenses Crohn's Disease GeneMap To Genentech, Inc. DNA ; Results Of Whole Genome Association Study To Be Used To Support Development Of New Therapeutics And Diagnostics. Genizon grants Genentech an exclusive license to Genizon's GeneMap of disease-associated genes generated from a whole genome association study of Crohn's disease patients from the Quebec Founder Population. Read at Canada NewsWire. Related News Genizon BioSciences Inc. Secures $12 Million; Company To Conduct Additional Whole-Genome Association Studies Generating Novel Drug Targets Scientists Reverse Evolution: Ancient Gene Reconstructed From Descendants Genizon BioSciences Inc. Raising Up To $17M Series C As It Prepares To Ink First Customers Researchers Identify Gene As Protector of DNA, Enemy of Tumors Genizon BioSciences Inc. Licenses Ingenuity Syste...
http://biospace.com/News/genizon-biosciences-inc-licenses-crohns-disease/26743
*  Definition of novel GP6 polymorphisms and major difference in haplotype frequencies between populat
... ions by a combination of in-depth exon resequencing and genotyping with tag single nucleotide polymorphisms - WestminsterResearch. . Home. About. Browse. Browse by Year. Browse by Research Community. Browse by Type. Browse by People. Browse by Full text. Advanced Search. Latest Additions. Login repository administrators only. Statistics. Definition of novel GP6 polymorphisms and major difference in haplotype frequencies between populations by a combination of in-depth exon resequencing and genotyping with tag single nucleotide polymorphisms. Watkins, Nicholas A. and O'Connor, Marie N. and Rankin, A. and Jennings, Nicola S. and Wilson, E. and Harmer, Ian J. and Davies, L. and Smethurst, Peter A. and Dudbridge, F. and Farndale, Richard W. and Ouwehand, Willem H. 2006 Definition of novel GP6 polymorphisms and major difference in haplotype frequencies between populations by a combination of in-depth exon resequencing and genotyping with tag single nucleotide polymorphisms. Journal of Thrombosis and Haemostasi...
http://westminsterresearch.wmin.ac.uk/3172/
*  Single-nucleotide polymorphism
... s may fall within coding sequences of gene s, non-coding regions of genes, or in the intergenic region s regions between genes. SNPs within a coding sequence do not necessarily change the amino acid sequence of the protein that is produced, due to degeneracy of the genetic code. Synonymous SNPs do not affect the protein sequence while nonsynonymous SNPs change the amino acid sequence of protein. SNPs in coding region s:. missense - single change in the base results in change in amino acid of protein and its malfunction which leads to disease e.g. The ' OMIM ' database describes the association between polymorphisms and diseases e.g., gives diseases in text form The Human Gene Mutation Database provides gene mutations causing or associated with human inherited diseases and functional SNPs The International HapMap Project, where researchers are identifying Tag SNP to be able to determine the collection of haplotypes present in each subject. — Introduction to SNPs from NCBI — SNP search — "a central reposito...
https://en.wikipedia.org/wiki/Single-nucleotide_polymorphism
*  Polymorphisms
... Protein Polymorphisms. Single Nucleotide Polymorphisms SNPs. Copy Number Polymorphisms CNPs. How are polymorphisms useful. Genetic Drift. Natural Selection. Natural vs. Polymorphisms. Link to an example. Protein Polymorphisms. All the examples above are of the protein products of alleles. Frog #8 was homozygous for allele E. Proteins are gene products and so polymorphic versions are simply reflections of allelic differences in the gene; that is, allelic differences in DNA. Most* RFLPs are created by a change in a single nucleotide in the gene, and so these are called single nucleotide polymorphisms SNP s. Single Nucleotide Polymorphisms SNPs. Alleles whose sequence reveals only a single changed nucleotide are called single nucleotide polymorphisms or SNPs. Copy Number Polymorphisms CNPs. Humans vary in the number of copies of AMY1 in their genome. In the case of AMY1 , the more copies present, the more enzyme that is produced. How a person adapts to a change in gene number for autosomal genes is unknown ...
http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/P/Polymorphisms.html
*  gms | 27. Deutscher Krebskongress | Single-nucleotide polymorphism (SNP) of ABCB1 transporter in col
Deutscher Krebskongress. Single-nucleotide polymorphism SNP of ABCB1 transporter in colorectal cancer patients and relation to the pharmacokinetics of irinotecan. German Medical Science English. DKK 2006. ber DKK 2006. Suche in DKK 2006 bersicht. Artikel. Artikel XML Version. Single-nucleotide polymorphism SNP of ABCB1 transporter in colorectal cancer patients and relation to the pharmacokinetics of irinotecan Meeting Abstract. Suche in Medline nach Farker K. Merkel U. Wedding U. Hippius M. Hoffmann A. Katrin Farker - Institut für Klinische Pharmakologie, Universitätsklinikum Jena, Deutschland. Ute Merkel - Institut für Klinische Pharmakologie, Universitätsklinikum Jena. Ulrich Wedding - Klinik für Innere Medizin II, Universitätsklinikum Jena. Marion Hippius - Institut für Klinische Pharmakologie, Universitätsklinikum Jena. Klaus Höffken - Klinik für Innere Medizin II, Universitätsklinikum Jena. Annemarie Hoffmann - Institut für Klinische Pharmakologie, Universitätsklinikum Jena. Deutscher Krebskongress. Düss...
http://egms.de/static/de/meetings/dkk2006/06dkk339.shtml
*  harbors genetic polymorphisms: Topics by Science.gov
Microsoft Academic Search. Microsoft Academic Search. Microsoft Academic Search. PubMed. We performed Key Words searches in the public databases PubMed, Medscape, and Rxlisty, Pharm GKB for genetic polymorphisms and the NCBI website for the nomenclature of alleles of CYP450, finding that CYP2D6, CYP2C9, CYP3A4, and CYP2D19 were involved in the metabolism of most antiepileptic drugs, given the allele frequency in the population and the associated variability in the clinical response. PMID:24896213. PubMed. PMID:23543093. Microsoft Academic Search. Microsoft Academic Search. PubMed. Significant associations were observed within the genotype frequencies, allele frequencies, and multi-single-nucleotide polymorphism SNP haplotype analysis of most polymorphisms studied. Most current genetic association studies, including genome-wide association studies, look for the single nucleotide polymorphisms SNPs with a relatively large minor allele frequency MAF e.g. Although the CDCV hypothesis has become the dogma guiding ...
http://science.gov/topicpages/h/harbors genetic polymorphisms.html
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. SkeletalMusclePsoas 1. cytoskeleton 1. regulation of striated muscle contraction 1. Text Cloud for KEGG Path PharmGKB Reported Association. Text Cloud for PharmGKB Drug Response Association mSigDB Pathway. Text Cloud for mSigDB Pathway. BRENTANI CYTOSKELETON 1. HSA04810 REGULATION OF ACTIN CYTOSKELETON 1. RAC1PATHWAY 1. SMOOTH MUSCLE CONTRACTION 1. STRIATED MUSCLE CONTRACTION 1. calcium ion binding cytoskeleton motor activity myosin complex protein binding regulation of striated muscle contraction structural constituent of muscle. AGED RHESUS UP ALKPATHWAY BRENTANI CYTOSKELETON CCR3PATHWAY ECMPATHWAY HSA04510 FOCAL ADHESION HSA04530 TIGHT JUNCTION HSA04670 LEUKOCYTE TRANSENDOTHELIAL MIGRATION HSA04810 REGULATION OF ACTIN CYTOSKELETON INOS ALL DN MCALPAINPATHWAY METASTASIS ADENOCARC DN MY...
http://pfs.nus.edu.sg/(S(xewinxqv3trxth14o3zk0jvx))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=4633
*  Undergraduate Research Program at Dordt College
Human Resources. Directly connecting human disease etiology with rare variant test performance One of the most active areas in statistical genetics is the development of new rare variant tests of association. In reality, rare variant genotypes from next generation sequencing, SNP chip, and imputed data will all contain genotyping errors and the gene-based tests must be robust to accommodate imperfect data. Errors in SNP genotyping are already known to dramatically impact statistical power for single marker tests on common variants Gordon and Finch, 2005; Kang et al. We will work to utilize the rare variant genotype error models from sequencing calls and imputation to precisely quantify the impact of study design variables affecting genotype accuracy on rare variant tests. 2007 : The effects of SNP genotyping errors on the power of the Cochran-Armitage linear trend test for case/control association studies. Basu S., Pan W.: Comparison of statistical tests for disease association with rare variants. 2008 : Meth...
http://dordt.edu/academics/programs/math/statgen/projects.shtml
*  Publications Search
... Contact Us. Search. Discovering the causes of cancer and the means of prevention. DCEG Home. About DCEG. Contact DCEG. What We Study. Who We Study. How We Study. Public Health Impact of DCEG Research. Training Resources for Fellows and Staff. Tools Resources. Study Design/Planning Tools. News Events. Publications Search - Abstract View. Common single nucleotide polymorphisms in genes related to immune function and risk of papillary thyroid cancer. PMC3592848. Accumulating evidence suggests that alterations in immune function may be important in the etiology of papillary thyroid cancer PTC. To identify genetic markers in immune-related pathways, we evaluated 3,985 tag single nucleotide polymorphisms SNPs in 230 candidate gene regions adhesion-extravasation-migration, arachidonic acid metabolism/eicosanoid signaling, complement and coagulation cascade, cytokine signaling, innate pathogen detection and antimicrobials, leukocyte signaling, TNF/NF-kB pathway or other in a case-control study of 344 PTC cases a...
http://dceg2.cancer.gov/cgi-bin-pubsearch/pubsearch/abstract.pl?id=3724
*  Comprehensive functional annotation of 77 prostate cancer risk Loci. | Broad Institute of MIT and Ha
Comprehensive functional annotation of 77 prostate cancer risk Loci. Broad Institute of MIT and Harvard. Partnerships Philanthropy Careers Contact Us. What is Broad. Our Approach Areas of Focus History Leadership Who is Broad Partner Institutions Artist-in-Residence Media Center. Press Room News from the Broad Photos for Journalists Spotlight: Ebola Spotlight: CRISPR BroadMinded Blog Video Library For the Scientific Community. Scientific Publications Science Data Software. Scientific Publications Science Data Software. Home. News & Publications:Scientific Publications Comprehensive functional annotation of 77 prostate cancer risk Loci. Recent Broad Publications A non-synonymous single-nucleotide polymorphism associated with multiple sclerosis risk affects the EVI5 interactome. Read More / View Supplemental Materials An integrated map of structural variation in 2,504 human genomes. Read More / View Supplemental Materials Somatic mutation in single human neurons tracks developmental and transcriptional history....
http://broadinstitute.org/publications/broad5503
*  Division of Cancer Control & Population Sciences - Grant Details
Funding Opportunities. Apply for Cancer Control Grants. Reports + Data. Reports About DCCPS. DCCPS Public Data Sets Analyses. Project Title: Genome Wide Association Study of Head and Neck Cancer. Therefore, head and neck cancers are an excellent model for studying genetic susceptibility to environmental carcinogens. The primary goal of this R01 application is to perform a comprehensive two-stage, high-density, genome-wide single-nucleotide polymorphism SNP analysis of head and neck cancer cases and corresponding frequency matched controls to identify novel genetic risk factors for head and neck cancer. One of the unique features of our study is the availability of DNA repair assay data on most of the cases and controls in this study, which will allow us to conduct genotype/phenotype analyses. In aim 1, we will perform genotyping on 1000 randomly selected head and neck cancer cases and 500 controls using a 370K Illumina Infinium HapMap HumanCNV370-Duo SNP Chip. We will perform association analyses 1000 cases a...
http://maps.cancer.gov/overview/DCCPSGrants/abstract.jsp?applId=8434277&term=CA131324
*  A common genetic variant is associated with adult and childhood obesity.
... Document Detail. A common genetic variant is associated with adult and childhood obesity. MedLine Citation:. PMID: 16614226 Owner: NLM Status: MEDLINE. We used a dense whole-genome scan of DNA samples from the Framingham Heart Study participants to identify a common genetic variant near the INSIG2 gene associated with obesity. We have replicated the finding in four separate samples composed of individuals of Western European ancestry, African Americans, and children. Our study suggests that common genetic polymorphisms are important determinants of obesity. 10818406 - The genetics of obesity. Publication Detail:. Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Journal Detail:. Medline Journal Info:. Department of Genetics and Genomics, Boston University Medical School, E613, 715 Albany Street, Boston, MA 02118, USA. Adult African Americans Alleles Body Mass Index* Case-Control Studies Child Cohort Studies Europe European Continental Ancestry Group Female Gene Frequ...
http://biomedsearch.com/nih/common-genetic-variant-associated-with/16614226.html
*  Phys.org - nucleotide
... News tagged with nucleotide. 1 day. 1 week. 1 month. 1 week. 1 month. Last day. 1 week. 1 month. DNA sequencing improved by slowing down. EPFL scientists have developed a method that improves the accuracy of DNA sequencing up to a thousand times. The method, which uses nanopores to read individual nucleotides, paves the way for better - and cheaper - DNA sequencing. Sep 21, 2015 in Bio & Medicine. MINAMOTO Toshifumi Project Assistant Professor, Graduate School of Human Development and Environment, Kobe University, Dr. Sep 07, 2015 in Ecology. Jun 22, 2015 in Biotechnology. The DNA encoding all life on Earth is made of four building blocks called nucleotides, commonly known as "letters," that line up in pairs and twist into a double helix. May 27, 2015 in Biochemistry. Researchers find possible universal code of protein structure. Apr 23, 2015 in Biotechnology. Using powerful advances in imaging technology, researchers at Yale University have visualized a key component deep within the ribosome, the tiny c...
http://phys.org/tags/nucleotide/
*  PMID:19724244
FEEDBACK. SIGN IN. CPIC. CPIC. Genes/Drugs. Search. Search. Genes. Help. Genome-wide association study of suicidal ideation emerging during citalopram treatment of depressed outpatients by Laje Gonzalo, Allen Andrew S, Akula Nirmala, Manji Husseini, John Rush A, McMahon Francis J in Pharmacogenetics and genomics 2009. We have described earlier the association between treatment-emergent suicidal ideation TESI and markers in genes encoding glutamate receptor subunits GRIK2 and GRIA3. The present genome-wide association study was conducted to identify additional genetic markers associated with TESI that may help identify individuals at high risk who may benefit from closer monitoring, alternative treatments, and/or specialty care. DNA samples from 90 White participants who developed TESI and a sex-matched and race-matched equal number of treated participants who denied any suicidal ideas were genotyped with 109 365 single nucleotide polymorphisms on the Illumina's Human-1 BeadChip. RESULTS: One marker was found ...
https://pharmgkb.org/pmid/19724244
*  WGAViewer
... 'WGAViewer'. 1 is a bioinformatics software tool which is designed to visualize, annotate, and help interpret the results generated from a genome wide association study GWAS. Alongside the P values of association, WGAViewer allows a researcher to visualize and consider other supporting evidence, such as the genomic context of the SNP, linkage disequilibrium LD with ungenotyped SNPs, gene expression database, and the evidence from other GWAS projects, when determining the potential importance of an individual SNP. Introduction Functions. Authors. Applications References External links. Introduction. WGAViewer currently offers several classes of annotation of the GWAS results:. zooming in/out searching for gene/SNP top hits sorting with individual SNP annotation. align results with the latest genome build gene/transcripts context. 2 linkage disequilibrium context. 3 Annotation for SNPs :. LD score for all HapMap SNPs in specified region association with specified gene expression. 4 Gene/SNP finding : locat...
https://en.wikipedia.org/wiki/WGAViewer
*  Polymorphisms in the interleukin-7 receptor α gene and morta... : AIDS
Polymorphisms in the interleukin-7 receptor α gene and morta... Enter your Email address:. Wolters Kluwer Health may email you for journal alerts and information, but is committed to maintaining your privacy and will not share your personal information without your express consent. AIDS Wolters Kluwer Health Logo. Top Cited Articles. Polymorphisms in the interleukin-7 receptor α gene and morta... Polymorphisms in the interleukin-7 receptor α gene and mortality in untreated HIV-infected individuals Hartling, Hans J. Objectives: Recently, polymorphisms in the gene encoding the interleukin-7 receptor α IL7Rα have been shown to influence the CD4 cell count in HIV-infected individuals. The objective of this study was to examine the impact of 10 single nucleotide polymorphisms SNPs in or in close proximity to the IL7Rα on mortality among 152 untreated HIV infected in a Zimbabwean cohort. Conclusion: The results suggest an association between the IL7Rα, rs6897932, T-allele and increased mortality among untreated HIV...
http://journals.lww.com/aidsonline/Abstract/2013/06190/Polymorphisms_in_the_interleukin_7_receptor___gene.10.aspx
*  Functional element SNPs database
... The 'Functional Element SNPs Database' 'FESD' is a biological database of SNPs in Molecular biology. The database defines functional elements into ten types: promoter regions, CpG islands, 5' untranslated regions 5'-UTRs, translation start sites, splice site s, coding exons, introns, translation stop sites, polyadenylation signals, and 3' UTRs. "FESD: A Functional Element Snps Database In Human." Nucleic Acids Research 33.DATABASE ISS. You select SNps based on disease, gene, or factor. Researchers used Functional analysis, Linkage disequilibrium mapping,SNP markers, and the HapMap database. FESD Version II may have been used since it has the information from HapMap as well as other databases. The ITIH3-HA complex has been reported to be involved in inflammatory diseases, including rheumatoid arthritis and inflammatory bowel diseases. The researchers hypothesized that this synonymous SNP affected the transcriptional regulation, because several papers reported that some transcriptional factors bound to the...
https://en.wikipedia.org/wiki/Functional_element_SNPs_database
*  ssSNPTarget
... s s SNPTarget : Genome-Wide Splice-Site Single Nucleotide Polymorphism Database. Home Search Supplementary Guides Statistics Contact us. About this database. How does Single Nucleotide Polymorphism SNP in splice sites effect splicing process. In humans, more than 90% of genes undergo an alternative splicing to generate different mRNAs and proteins mediated by alternative splicing sites. Recent deep sequencing study with human transcripts shows that most human genes up to 94% undergo alternative splicing Wang, et al., 2008. The choice of splice sites at the exon/intron boundaries is controlled by splicing factors and regulatory sequences in transcripts Black 2003; Black, D. L 2003. Single Nucleotide Polymorphisms SNPs in splice sites can influence the splicing process. Therefore, SNPs in splice sites ssSNPs can be directly related to exon configuration. They can also produce or allow new splice sites, cryptic splice sites, that resemble authentic splice sites but cause incorrect sequences to be included i...
http://variome.kobic.re.kr/ssSNPTarget/
*  Applied Biosystems by Life Technologies
... Applied Biosystems. by Life Technologies. All Categories. All Categories. Gene Specific Assays. Applications Technologies. Support. All Categories Search. Search. Store Log In. Hello, Jane Smith. Hello, Jane Smith. Store Log In. Contact Information. United States. TaqMan Assays. DNA Sequencing by Capillary Electrophoresis. DNA / RNA Detection, Labeling Synthesis. DNA / RNA Purification. Gene Expression. Genotyping. Next-Generation Sequencing. PCR. Protein Research. Real-Time PCR. Semiconductor Sequencing. Services. siRNA, miRNA Non-Coding RNA. What s New: New Products. Assay Searches: Silencer siRNA. Custom TaqMan Array. TaqMan Gene Expression Assays. TaqMan MicroRNA Assays. TaqMan Copy Number Assays. TaqMan SNP Genotyping Assays. TaqMan Protein Assays. Applications Technologies. Services. Support. My Baskets/Orders. View My Basket. Previous Slide Next Slide. Get great deals on the latest life science technology TaqMan Gene Expression Assays, Single Tube TaqMan SNP Genotyping Assays, Single Tube. TaqMan ...
http://appliedbiosystems.com/absite/us/en/home.html
*  Gene expression analysis based on imputed genotype
... search liming s website main csg home liming liang home software genome asthma eqtl eqtl imputation repeated measures genetic matching mqls gene expression analysis based on imputed genotypes gene expression in lymphoblastoid cell lines was characterized in a sample of siblings using affymetrix hg u plus chips among these individuals were also genotyped at snps using the illumina humanhap arrays with additional genotypes for snps in the phase ii hapmap filled in using imputation this website provides a browseable summary of association analysis results p value the results summarize the additive association between each snp and transcripts with estimated heritability in the sample you can browse the results by gene probeset id by chromosomal position or by snp name please use these web browsers internetexplorer firefox or opera comments and suggestions are appreciated please email me lliang hsph harvard edu ...
http://csg.sph.umich.edu/liang/imputation/
*  Human Chromosome 21 SNP Database
human chromosome snp database university of geneva human chromosome csnp database and map swiss institute of bioinformatics a joint project between the division of medical genetics of the university of geneva medical school and the swiss institute of bioinformatics chromosome is the smallest human chromosome the long arm of which comprises mb of dna sequence the completion of its nucleotide sequence revealed genes it is associated with a number of human pathologies such as down syndrome as well as several monogenic and complex genetic disorders here we present a comprehensive csnp single nucleotide polymorphisms within cdna sequences database and map which was generated using a combination of bioinformatics and experimental approaches see methods using the complete dna sequence and the large amount of ests present in the public databases the csnps will undoubtedly become important tools in genetic epidemiology studies for the dissection of complex disorders gene table map blast search text search methods csnp...
http://csnp.unige.ch/
*  Clipse Release New Single | Sputnikmusic
Clipse Release New Single. Sputnikmusic. reviews. charts. news. lists community blog. login browse genres. new releases staff reviews. best new music. Clipse Release New Single 2009-07-30 by. illmitch. 6 Comments. Clipse have released a new single from their forthcoming album, Till the Casket Drops, which can be heard here:. http://www.hiphopdx.com/index/audio/id.8311/title.clipse-f-keri-hilson-pharrell-all-eyes-on-me-final-version. This is the third single released so far, along with "Kinda Like A Big Deal ft. Kanye West " and "I'm Good ft. Pharrell ". Tagged: Clipse. Tweet. Comments: Add a Comment. illmitch July 30th 2009 5465 Comments. beat is ridiculously dope. klap Staff Reviewer July 30th 2009 11017 Comments. yesssss. theacademy Staff Reviewer July 30th 2009 29205 Comments. cHEA. Iluvatar Emeritus July 31st 2009 16089 Comments. song is dope as fuck. Infernis July 31st 2009 398 Comments. This. scyther July 31st 2009 1606 Comments. Nice. Add a Comment:. You have to be logged in to post a comment. Login. C...
http://sputnikmusic.com/news/10077/Clipse-Release-New-Single/
*  Project: Prenatal and neonatal biologic markers for autism
... Projects Home Project Detail. Prenatal and neonatal biologic markers for autism. This grant supports the continuation of an investigation of prenatal and newborn biologic markers for autism previously funded by NIH. This project, known as the Early Markers for Autism EMA Study, is the first large, population-based case-control study to utilize these very early biologic specimens to elucidate underlying causes of autism. Preliminary results from the first funding cycle indicate that the mid-pregnancy immune profile of mothers of children with autism spectrum disorders ASD is dysregulated in comparison to mothers of control children. The goal of the new study is to investigate further the role of prenatal and newborn immunologic factors, genetic susceptibility factors, environmental exposures, and the interplay of genes with environment, by evaluating stored prenatal maternal and newborn blood specimens for children with autism, children with mental retardation MR but not autism, and population controls. T...
https://iacc.hhs.gov/apps/portfolio-analysis-web-tool/project?projectId=3679&fy=2010
*  Recent Articles | Single-nucleotide Polymorphism And Cell & Molecular Biology | The Scientist Magazi
Recent Articles. Single-nucleotide Polymorphism And Cell Molecular Biology. The Scientist Magazine. Page 7. The Scientist Sign In or Register. Advertisement. The Scientist. tags: single-nucleotide polymorphism x. cell molecular biology x. The Scientist single-nucleotide polymorphism and cell molecular biology. Most Recent New Piece of a Mysterious Channel By Kerry Grens. November 25, 2014. Researchers have nailed down yet another component of the mechanotransduction complex responsible for relaying signals from hair cells in the ear. 1 Comment. Mapping the Human Proteome By Jef Akst. November 10, 2014. A comprehensive map of human proteins throughout the body identifies the testes as home to the most unique blend of gene products. 0 Comments. Enhanced Enhancers By Eric Olson. November 1, 2014. The recent discovery of super-enhancers may offer new drug targets for a range of diseases. 0 Comments. Mitochondria Munchers By Jyoti Madhusoodanan. November 1, 2014. Glial cells consume mitochondria released by neuron...
http://the-scientist.com/?articles.list/tagNo/2166,4/tags/single-nucleotide-polymorphism,cell--amp--molecular-biology/pageNo/7/
*  Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome
Improved imputation quality of low-frequency and rare variants in European samples using the Genome of The Netherlands. Broad Institute of MIT and Harvard. Partnerships Philanthropy Careers Contact Us. What is Broad. Our Approach Areas of Focus History Leadership Who is Broad Partner Institutions Artist-in-Residence Media Center. Press Room News from the Broad Photos for Journalists Spotlight: Ebola Spotlight: CRISPR BroadMinded Blog Video Library For the Scientific Community. Scientific Publications Science Data Software. Scientific Publications Science Data Software. Home. News & Publications:Scientific Publications Improved imputation quality of low-frequency and rare variants in European samples using the Genome of The Netherlands. Recent Broad Publications A non-synonymous single-nucleotide polymorphism associated with multiple sclerosis risk affects the EVI5 interactome. Read More / View Supplemental Materials An integrated map of structural variation in 2,504 human genomes. Read More / View Supplementa...
http://broadinstitute.org/publications/broad5792
*  PTPN22
... 'Protein tyrosine phosphatase, non-receptor type 22 lymphoid ', also known as 'PTPN22', is a protein that in humans is encoded by the 'PTPN22' gene. This gene can be expressed in different forms. PTPN22 affects the responsiveness of T and B cell receptors, and mutations are associated with increases or decreases in risks of autoimmune diseases. Molecular biology Function Disease association References Further reading. Molecular biology. The gene is located on the short arm of Chromosome 1 near the end telomere 1p13.2 on the Crick minus strand. It is 57,898 bases in length and encodes a protein of 807 amino acids molecular weight 91,705 Da. There are 24 exon s in the gene and 21 transcript variants encoding 10 distinct proteins are known. The proteins are located in the cytoplasm. 3 Function. This gene encodes a protein tyrosine phosphatase which is expressed primarily in lymphoid tissue s. This enzyme is involved in several signalling pathways associated with the immune response. Based on models of the m...
https://en.wikipedia.org/wiki/PTPN22
*  Rs7341475
rs rs in genetics rs is a single nucleotide polymorphism snp in the reln gene that codes the reelin protein the gene reln is mapped to human chromosome q the snp rs is located in the fourth intron of reln the gene reln has many more snps among its exons and introns even in intron there are tens of snps the snp is currently under investigation for a possible link to schizophrenia a genome wide association study pointed to that a variant of the snp could elevate the risk for schizophrenia among women news references category single nucleotide polymorphisms...
https://en.wikipedia.org/wiki/Rs7341475
*  Common disease-common variant
... The 'common disease-common variant' often abbreviated CD-CV hypothesis predicts that common disease-causing alleles, or variants, will be found in all human populations which manifest a given disease. Common variants not necessarily disease-causing are known to exist in coding and regulatory sequences of genes. According to the CD-CV hypothesis, some of those variants lead to susceptibility to complex polygenic diseases. Each variant at each gene influencing a complex disease will have a small additive or multiplicative effect on the disease phenotype. These diseases, or traits, are evolutionary neutral in part because so many genes influence the traits. The hypothesis has held true in the case of putative causal variants in apolipoprotein E, including 'APOE' ε4, associated with Alzheimer's disease. Expanded high-resolution genetic study of 109 Swedish families with Alzheimer's disease, Anna Sillén, Jorge Andrade, Lena Lilius, Charlotte Forsell, Karin Axelman, Jacob Odeberg, Bengt Winblad and Caroline Gr...
https://en.wikipedia.org/wiki/Common_disease-common_variant
*  www.biomedcentral.com - Figure
... Resolution: standard / high Figure 1. Comparison of in vitro and in silico SNP detection approach using validated SNPs from two lignin genes. A The SNPs detected in vitro and in silico approach in C4H top and CAD bottom gene were compared to SNPs validated using Illumina GoldenGate assay. The tick and cross indicates polymorphic and monomorphic SNP, respectively, while a dash indicates a failed assay; B The nucleotide and protein sequence of two SNP haplotypes found in CAD gene observed in individual AA3. The haplotypes consist of 12 SNPs within 452 bp. Six non-synonymous SNPs from haplotype 2 which caused a change in amino acid sequences are indicated in bold font. The SNP that is detected only by Bowtie/Samtools approach are circled in red. Wong et al. BMC Genomics 2012 13 :726 doi:10.1186/1471-2164-13-726 Download authors' original image....
http://biomedcentral.com/1471-2164/13/726/figure/F1
*  .. Knome: The Review .. Share this: .. Like this:
Knome: The Review. As today is the day when Knome launches the first commercial whole-genome sequencing and analysis service for individuals, I thought it’s time to write the review about them. If you want to read the review about 23andMe, Navigenics or Helix Health, check out this post. Anyway, they fail to mention the details of their “comprehensive” analysis and the other team members like clinicians or geneticists. They don’t tell us how they predict disease-associated risks neither. Team : The main advisor is unquestionably the best in the field of personalized genetics: George Church, the Professor of Genetics at Harvard Medical School. Service :. Method : Whole-genome sequencing which means not only the essential SNPs single nucleotide polymorphisms will be analyzed, but the whole genetic code of an individual. It will enable us to look at nearly 100% of your genetic code compared to the less than 0.02% currently available on SNP chips. Cost : The service will start at $350,000, including whole-genome ...
http://scienceroll.com/2007/11/30/knome-the-review/?like=1&_wpnonce=408a4faab0
*  Rs6311
rs rs in genetics rs is a gene variation a single nucleotide polymorphism snp in the human htr a gene that codes for the ht a receptor ht a is neuroreceptor and several scientific studies have investigated the effect of the genetic variation on personality e g personality traits measured with the temperament and character inventory or with a psychological task measuring impulsive behavior the snp has also been investigated in rheumatology studies some research studies may refer to this gene variation as a c t snp while others refer to it as a g a polymorphism in the promoter region thus writing it as e g g a or g a meta analysis of research studies indicates that people with the a allele may have slightly elevated risk of schizophrenia rs rs and rs are other investigated snps in the htr a gene references category single nucleotide polymorphisms...
https://en.wikipedia.org/wiki/Rs6311
*  gwas - variation in expression accounted for a SNP -- what's a usual percent? - Biology Stack Exchan
gwas - variation in expression accounted for a SNP -- what's a usual percent. - Biology Stack Exchange. Biology. Biology Meta. more stack exchange communities. Stack Exchange. sign up log in tour. Help Center Detailed answers to any questions you might have. Biology Questions. Sign up. Biology Stack Exchange is a question and answer site for biology researchers, academics, and students. variation in expression accounted for a SNP what's a usual percent. I am reading a GWAS paper that found a SNP associated to predisposition to colon cancer and was assessed for gene expression of the nearby gene. They found that the genotype accounted for 55% of the variation in the nearby gene expression. 55% sounds like a lot to me, what is the usual percent accounted for a significant SNP in a study like this. gene-expression gwas snp share. up vote 3 down vote. There have been several 'genome-wide' studies of SNPs that directly affect expression. There are several common SNPs cis-acting that account for >50% of the...
http://biology.stackexchange.com/questions/2767/variation-in-expression-accounted-for-a-snp-whats-a-usual-percent?answertab=active
*  [Bioperl-l] how to get the protein sequences from DNA sequences around novel SNPs?
how to get the protein sequences from DNA sequences around novel SNPs. how to get the protein sequences from DNA sequences around novel SNPs. Robert Bradbury robert.bradbury at gmail.com. Previous message: how to get the protein sequences from DNA sequences around novel SNPs. Next message: how to get the protein sequences from DNA sequencesaround novel SNPs. Messages sorted by:. On Mon, Nov 9, 2009 at 1:08 PM, Guangchun Song gc11song at gmail.com wrote: I'm new bioperl user. I' working on a project: To determine the status of all tutative SNPs such as non-synonymous vs. synonymous, and predict the tranlational effect of non-synonymous mutations as benign or malicious. I'm trying to use bioperl to get the DNA sequence and translate to protein sequence for the SNPs that are in gene's coding region. or What are the critical proteins damaged by gene defects in the Human Genome. The value of BioPerl would increase significantly if there were functionality that would allow easy access to these mutations may have ne...
http://bioperl.org/pipermail/bioperl-l/2009-November/031568.html
*  Rs4680
rs rs in genetics rs val met is a genetic variant it is a single nucleotide polymorphism snp in the comt gene that codes catechol o methyltransferase the single nucleotide substitution between g a results in an amino acid change from valine to methionine at codon the a or met allele is associated with lower enzymatic activity due to thermoinstability and with exploratory behaviour the polymorphism has been much studied in schizophrenia research but as of november meta analysis in the szgene database shows no or very little effect http www szgene org meta asp geneid polyid several personality genetics studies have examined the association of the polymorphism with personality trait s references category single nucleotide polymorphisms category biology of bipolar disorder...
https://en.wikipedia.org/wiki/Rs4680
*  bioinformatics - SNPs mapping into protein - Biology Stack Exchange
... current community. chat blog. Biology. . Biology Meta. your communities. Sign up or log in to customize your list. more stack exchange communities. Stack Exchange. Inbox. Reputation and Badges. sign up log in tour. help. Tour Start here for a quick overview of the site. Help Center Detailed answers to any questions you might have. Meta Discuss the workings and policies of this site. Biology Questions. Tags. Users. Badges. Unanswered. Ask Question. Sign up. Biology Stack Exchange is a question and answer site for biology researchers, academics, and students. It's 100% free, no registration required. SNPs mapping into protein. up vote 0 down vote favorite. Starting a new project on protein-protein interactions and SNP analysis tool development. I would like to ask how does SNPs is mapped into protein. What does mapping means. bioinformatics proteins snp share. improve this question. edited May 13 '13 at 20:52. MattDMo 6,160. 1 18. 41. asked May 13 '13 at 20:06. Zizo 110. 3 I assume SNP means Single-Nuc...
http://biology.stackexchange.com/questions/8341/snps-mapping-into-protein/8342
*  Rs7997012
rs rs in genetics rs is a gene variation a single nucleotide polymorphism snp in intron of the human htr a gene that codes for the ht a receptor the snp varies between adenine a and guanine g dna bases with the g allele being most frequent a research study found it to be related to antidepressant treatment comments the research group reported that a polymorphism rs on another gene the grik has also shown a treatment response association in this kind of treatment in a japanese study rs was not associated with neither major depressive disorder nor bipolar disorder rs rs and his tyr rs are other snps in the htr a gene there are many more even in intron alone references category single nucleotide polymorphisms...
https://en.wikipedia.org/wiki/Rs7997012
*  WaferGen Biosystems Launches MyDesign Setting a New Standard in Flexibility with an Open Format H
... igh Throughput qPCR Platform. Post Jobs. WaferGen Biosystems Launches MyDesign - Setting a New Standard in Flexibility with an Open Format High-Throughput qPCR Platform. After loading their custom content on MyDesign SmartChips, customers will be able to perform accurate high-throughput qPCR gene expression and single nucleotide polymorphism SNP genotyping projects in a simpler and more cost-effective way. We are looking forward to deploying the platform in a number of future studies requiring high-throughput qPCR solutions," stated Dr. It provides a range of high-throughput capabilities including microRNA and mRNA gene expression profiling as well as single nucleotide polymorphism SNP genotyping. For additional information, please see: http://www.wafergen.com Forward Looking Statements This press release contains certain "forward-looking statements". Such statements include statements relating to the expected benefits to the Company of its new open format qPCR platform and strategic realignment, the expe...
http://biospace.com/News/wafergen-biosystems-launches-mydesign-setting-a/266449
*  AlzGene
... NEWSLETTER To search AlzGene, use the "Keyword" search on the AlzGene search page. AlzGene. MY ALZFORUM. My AlzForum Home. AlzGene - FIELD SYNOPSIS OF GENETIC ASSOCIATION STUDIES IN AD. GWAS and other large-scale association studies. "Sherva, 2011 " AGPAT1. "Sherva, 2011 " ATP6V0A4. "Sherva, 2011 " GLOD4. "Sherva, 2011 " RGS6. "Sherva, 2011 " TMEM132C. The AlzGene database provides a comprehensive, unbiased and regularly updated field synopsis of genetic association studies performed in Alzheimer’s disease. In addition, hundreds of meta-analyses are available for all eligible polymorphisms with sufficient data. For details on the background and methods behind AlzGene, see the Methods section. Note to all users: we are in the process of upgrading AlzGene to a new database software. During this process, this version of AlzGene will not be updated regularly. 2007 "Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database." Nat Genet 39 1 : 17-23. AlzGene Recent Updates ...
http://alzgene.org/default.asp?findKeyword=1&keyword=21098978
*  Rs1801133
rs rs c t or rs is a genetic variation a single nucleotide polymorphism snp in the mthfr gene among americans the frequency of t homozygosity ranges from or less among blacks to or more among italians and hispanics it has been related to schizophrenia alzheimer s disease depression autism spina bifida in association studies on oral cleft s down syndrome and fetal anticonvulsant syndrome were either unreplicated or had yielded conflicting results related genetic variants a c is a snp in the same gene studies have investigated the combined effect of c t and a c references category single nucleotide polymorphisms...
https://en.wikipedia.org/wiki/Rs1801133
*  AlzGene
... NEWSLETTER To search AlzGene, use the "Keyword" search on the AlzGene search page. AlzGene. My AlzForum Home. AlzGene - FIELD SYNOPSIS OF GENETIC ASSOCIATION STUDIES IN AD. GWAS and other large-scale association studies. The AlzGene database provides a comprehensive, unbiased and regularly updated field synopsis of genetic association studies performed in Alzheimer’s disease. In addition, hundreds of meta-analyses are available for all eligible polymorphisms with sufficient data. For details on the background and methods behind AlzGene, see the Methods section. Note to all users: we are in the process of upgrading AlzGene to a new database software. During this process, this version of AlzGene will not be updated regularly. 2007 "Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database." Nat Genet 39 1 : 17-23. AlzGene Recent Updates APOE PICALM MS4A6A MS4A4A MS4A4E EPHA1 CR1 CLU CD33 CD2AP BIN1 ABCA7 ARID5B CELF2 APOC4 BCAM CLPTM1 PVRL2 LOC3884... GWA 9p2... ATXN1 ...
http://alzgene.org/default.asp?findKeyword=1&keyword=18585350
*  Nucleotide Polymorphism | SciVee
Nucleotide Polymorphism. SciVee. × Login. Username:. Password:. Register. Forget your password. Click Here. Follow @SciVee. login upload. Home. Journals. Conferences. Education. Search. All Content. All Content. Journals. Conferences. Education. Communities. SciveeCasts. Videos. All Content Journals Conferences Education Communities. SciveeCasts Videos. Please enter at least 3 characters. Mayo Genome Consortia: Genotype-Phenotype Association Studies Applicable to Analysis of Circulating Bilirubin Levels. submitted by: mcgheekkm. Dr. Suzette Bielinski, Assistant Professor of Epidemiology at Mayo Clinic in Rochester, MN, discusses her Online First article available at: http://tinyurl.com/5utdrst and appearing in the July 2011 issue of Mayo Clinic Proceedings on the Mayo Genome consortia, a genotype-phenotype resource for genome-wide association Studies. Solutions. Products. Journals. Conferences. TeachYou. Education. Brochure. Navigation. Upload. Search. Help. Partners. Terms. Privacy. About. Contact. Media. Sc...
http://scivee.tv/tag/nucleotide_polymorphism
*  Rs1799913
rs rs in genetics rs also called a c is a gene variation a single nucleotide polymorphism snp in the tph gene it is located in intron the snp association with schizophrenia has been examined in several studies though as of with no definitive conclusion one study has found that the snp may be associated with heroin addiction a c rs is another snp in the same intron in the same gene references category single nucleotide polymorphisms...
https://en.wikipedia.org/wiki/Rs1799913
*  AlzGene
... NEWSLETTER To search AlzGene, use the "Keyword" search on the AlzGene search page. AlzGene. PAPERS. All Papers. MY ALZFORUM. My AlzForum Home. AlzGene - FIELD SYNOPSIS OF GENETIC ASSOCIATION STUDIES IN AD. GWAS and other large-scale association studies. The AlzGene database provides a comprehensive, unbiased and regularly updated field synopsis of genetic association studies performed in Alzheimer’s disease. In addition, hundreds of meta-analyses are available for all eligible polymorphisms with sufficient data. For details on the background and methods behind AlzGene, see the Methods section. Note to all users: we are in the process of upgrading AlzGene to a new database software. During this process, this version of AlzGene will not be updated regularly. 2007 "Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database." Nat Genet 39 1 : 17-23. AlzGene Recent Updates APOE PICALM MS4A6A MS4A4A MS4A4E EPHA1 CR1 CLU CD33 CD2AP BIN1 ABCA7 ARID5B CELF2 APOC4 BCAM CLPTM1 P...
http://alzgene.org/default.asp?findKeyword=1&keyword=12192622
*  AlzGene
... NEWSLETTER To search AlzGene, use the "Keyword" search on the AlzGene search page. AlzGene. PAPERS. All Papers. MY ALZFORUM. My AlzForum Home. AlzGene - FIELD SYNOPSIS OF GENETIC ASSOCIATION STUDIES IN AD. GWAS and other large-scale association studies. The AlzGene database provides a comprehensive, unbiased and regularly updated field synopsis of genetic association studies performed in Alzheimer’s disease. In addition, hundreds of meta-analyses are available for all eligible polymorphisms with sufficient data. For details on the background and methods behind AlzGene, see the Methods section. Note to all users: we are in the process of upgrading AlzGene to a new database software. During this process, this version of AlzGene will not be updated regularly. 2007 "Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database." Nat Genet 39 1 : 17-23. AlzGene Recent Updates APOE PICALM MS4A6A MS4A4A MS4A4E EPHA1 CR1 CLU CD33 CD2AP BIN1 ABCA7 ARID5B CELF2 APOC4 BCAM CLPTM1 P...
http://alzgene.org/default.asp?findKeyword=1&keyword=19433657
*  Genome-wide linkage disequilibrium in the Blonde d'Aquitaine cattle breed - Beghain - 2012 - Journal
... of Animal Breeding and Genetics - Wiley Online Library. Original Article Genome-wide linkage disequilibrium in the Blonde d'Aquitaine cattle breed. Additional Information How to Cite Beghain, J., Boitard, S., Weiss, B., Boussaha, M., Gut, I. 2013 , Genome-wide linkage disequilibrium in the Blonde d'Aquitaine cattle breed. Author Information 1 Undergraduate Programme in Bioinformatics, Institut Universitaire Technologique d'Aurillac/Universit d'Auvergne, Jouy-en-Josa, France 2 INRA/AgroParisTech, UMR1313, Unit G n tique Animale et Biologie Int grative, Domaine de Vilvert, Jouy-en-Josa, France 3 INRA/ENVT, UMR444, Laboratoire de G n tique Cellulaire, Tolosan, France 4 CEA, Institut de G nomique, Centre National de G notypage, Barcelona, France 5 INRA/Universit de Limoges, UMR1061, Unit de G n tique Mol culaire Animale, Facult des Sciences, Limoges, France Centre Nacional d'An lisis Gen mica, Parc Cientific de Barcelona, Barcelona, Spain. Rocha, INRA/AgroParisTech, UMR1313, Unit de G n tique Animale et Biol...
http://onlinelibrary.wiley.com/doi/10.1111/j.1439-0388.2012.01020.x/full

WGAViewer: WGAViewer is a bioinformatics software tool which is designed to visualize, annotate, and help interpret the results generated from a genome wide association study (GWAS). Alongside the P values of association, WGAViewer allows a researcher to visualize and consider other supporting evidence, such as the genomic context of the SNP, linkage disequilibrium (LD) with ungenotyped SNPs, gene expression database, and the evidence from other GWAS projects, when determining the potential importance of an individual SNP.Disequilibrium (medicine): Disequilibrium}}Genetic variation: right|thumbInfinite alleles model: The infinite alleles model is a mathematical model for calculating genetic mutations. The Japanese geneticist Motoo Kimura and American geneticist James F.Gene polymorphismPanmixia: Panmixia (or panmixis) means random mating.King C and Stanfield W.Haplogroup L0 (mtDNA)Branching order of bacterial phyla (Gupta, 2001): There are several models of the Branching order of bacterial phyla, one of these was proposed in 2001 by Gupta based on conserved indels or protein, termed "protein signatures", an alternative approach to molecular phylogeny. Some problematic exceptions and conflicts are present to these conserved indels, however, they are in agreement with several groupings of classes and phyla.DNA sequencer: A DNA sequencer is a scientific instrument used to automate the DNA sequencing process. Given a sample of DNA, a DNA sequencer is used to determine the order of the four bases: G (guanine), C (cytosine), A (adenine) and T (thymine).Nested case-control study: A nested case control (NCC) study is a variation of a case-control study in which only a subset of controls from the cohort are compared to the incident cases. In a case-cohort study, all incident cases in the cohort are compared to a random subset of participants who do not develop the disease of interest.HLA-DQ: HLA-DQ (DQ) is a cell surface receptor protein found on antigen presenting cells. It is an αβ heterodimer of type MHC Class II.Microsatellite: A microsatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from 2–5 base pairs) are repeated, typically 5-50 times. Microsatellites occur at thousands of locations in the human genome and they are notable for their high mutation rate and high diversity in the population.Chromosome regionsGenetic linkage: Genetic linkage is the tendency of alleles that are located close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction. Genes whose loci are nearer to each other are less likely to be separated onto different chromatids during chromosomal crossover, and are therefore said to be genetically linked.Amplified fragment length polymorphismColes PhillipsPedigree chart: A pedigree chart is a diagram that shows the occurrence and appearance or phenotypes of a particular gene or organism and its ancestors from one generation to the next,pedigree chart Genealogy Glossary - About.com, a part of The New York Times Company.Symmetry element: A symmetry element is a point of reference about which symmetry operations can take place. In particular, symmetry elements can be centers of inversion, axes of rotation and mirror planes.HLA B7-DR15-DQ6Health geography: Health geography is the application of geographical information, perspectives, and methods to the study of health, disease, and health care.Molecular evolution: Molecular evolution is a change in the sequence composition of cellular molecules such as DNA, RNA, and proteins across generations. The field of molecular evolution uses principles of evolutionary biology and population genetics to explain patterns in these changes.Phylogeography: Phylogeography is the study of the historical processes that may be responsible for the contemporary geographic distributions of individuals. This is accomplished by considering the geographic distribution of individuals in light of the patterns associated with a gene genealogy.PCDHY: PCDH11Y is a gene unique to human males which competes with FOXP2 for the title of the "language gene." PCDH11Y is the gene for making Protocadherin 11Y, a protein that guides the development of nerve cells.Thermal cyclerCIITA: CIITA is a human gene which encodes a protein called the class II, major histocompatibility complex, transactivator. Mutations in this gene are responsible for the bare lymphocyte syndrome in which the immune system is severely compromised and cannot effectively fight infection.Phenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.Atomic heraldry: Atomic heraldry is heraldry characterised by the appearance of charges including the atom or showing the motion of parts of the atom; more loosely, it may describe heraldry in which atoms or the component parts thereof are represented through a combination of other charges. Obviously, this is a late development in heraldry.Recombination (cosmology): In cosmology, recombination refers to the epoch at which charged electrons and protons first became bound to form electrically neutral hydrogen atoms.Note that the term recombination is a misnomer, considering that it represents the first time that electrically neutral hydrogen formed.List of companies of Bahrain: This is a list of notable companies based in Bahrain, grouped by their Industry Classification Benchmark sector.Silent mutation: Silent mutations are mutations in DNA that do not significantly alter the phenotype of the organism in which they occur. Silent mutations can occur in non-coding regions (outside of genes or within introns), or they may occur within exons.Layout of the Port of Tianjin: The Port of Tianjin is divided into nine areas: the three core (“Tianjin Xingang”) areas of Beijiang, Nanjiang, and Dongjiang around the Xingang fairway; the Haihe area along the river; the Beitang port area around the Beitangkou estuary; the Dagukou port area in the estuary of the Haihe River; and three areas under construction (Hanggu, Gaoshaling, Nangang).MIM Pan-African Malaria Conference 2009HLA-A: HLA-A is a group of human leukocyte antigens (HLA) that are coded for by the HLA-A locus, which is located at human chromosome 6p21.3.Gene pool: The gene pool is the set of all genes, or genetic information, in any population, usually of a particular species.Manuae (Cook Islands): Manuae is an uninhabited atoll in the southern group of the Cook Islands, 100 kilometres south-east of Aitutaki. It is administratively part of Aitutaki, but does not belong to any district or tapere of Aitutaki.GA²LENDecoding methods: In coding theory, decoding is the process of translating received messages into codewords of a given code. There have been many common methods of mapping messages to codewords.GC box: In molecular biology, a GC box is a distinct pattern of nucleotides found in the promoter region of some eukaryotic genes upstream of the TATA box and approximately 110 bases upstream from the transcription initiation site. It has a consensus sequence GGGCGG which is position dependent and orientation independent.Selection (relational algebra): In relational algebra, a selection (sometimes called a restriction to avoid confusion with SQL's use of SELECT) is a unary operation written asClonal Selection Algorithm: In artificial immune systems, Clonal selection algorithms are a class of algorithms inspired by the clonal selection theory of acquired immunity that explains how B and T lymphocytes improve their response to antigens over time called affinity maturation. These algorithms focus on the Darwinian attributes of the theory where selection is inspired by the affinity of antigen-antibody interactions, reproduction is inspired by cell division, and variation is inspired by somatic hypermutation.DNA condensation: DNA condensation refers to the process of compacting DNA molecules in vitro or in vivo. Mechanistic details of DNA packing are essential for its functioning in the process of gene regulation in living systems.Lampreado: thumb | 250px | right | LampreadoAlternative splicing: Alternative splicing is a regulated process during gene expression that results in a single gene coding for multiple proteins. In this process, particular exons of a gene may be included within or excluded from the final, processed messenger RNA (mRNA) produced from that gene.QRISK: QRISK2 (the most recent version of QRISK) is a prediction algorithm for cardiovascular disease (CVD) that uses traditional risk factors (age, systolic blood pressure, smoking status and ratio of total serum cholesterol to high-density lipoprotein cholesterol) together with body mass index, ethnicity, measures of deprivation, family history, chronic kidney disease, rheumatoid arthritis, atrial fibrillation, diabetes mellitus, and antihypertensive treatment.California Wolf Center: California Wolf Center is a 501(c)3 nonprofit located 50 miles east of San Diego, near the town of Julian, California. It is a one-of-a-kind, conservation, education, and research center dedicated to wolf recovery in the wild.Utiaritichthys: Utiaritichthys is a genus of serrasalmid found in the Amazon and Orinoco basins in tropical South America.Miss Asia Pacific 2005Intron: right|thumbnail|270px|Representation of intron and [[exons within a simple gene containing a single intron.]]Network for Pancreatic Organ Donors with Diabetes: The Network for Pancreatic Organ donors with Diabetes (nPOD), is a collaborative type 1 diabetes research project funded by JDRF (formerly known as the Juvenile Diabetes Research Foundation). nPOD supports scientific investigators by providing, without cost, rare and difficult to obtain tissues beneficial to their research.HLA-C: HLA-C belongs to the MHC (human = HLA) class I heavy chain receptors. The C receptor is a heterodimer consisting of a HLA-C mature gene product and β2-microglobulin.Killer-cell immunoglobulin-like receptor: Killer-cell immunoglobulin-like receptors (KIRs), are a family of cell surface proteins found on important cells of the immune system called natural killer (NK) cells. They regulate the killing function of these cells by interacting with MHC class I molecules, which are expressed on all cell types.Hyperphenylalaninemia: (also includes non-classic PKU)Indigenous peoples of SiberiaUniparental inheritance: Uniparental inheritance is a non-mendelian form of inheritance that consists of the transmission of genotypes from one parental type to all progeny. That is, all the genes in offspring will originate from only the mother or only the father.Geranylhydroquinone 3''-hydroxylase: Geranylhydroquinone 3-hydroxylase (, GHQ 3-hydroxylase) is an enzyme with system name geranylhydroquinone,NADPH:oxygen oxidoreductase (3-hydroxylating). This enzyme catalyses the following chemical reactionPopulation stratification: Population stratification is the presence of a systematic difference in allele frequencies between subpopulations in a population possibly due to different ancestry, especially in the context of association studies. Population stratification is also referred to as population structure, in this context.Tandem repeat: Tandem repeats occur in DNA when a pattern of one or more nucleotides is repeated and the repetitions are directly adjacent to each other. Several protein domains also form tandem repeats within their amino acid primary structure, such as Armadillo repeats.Niigata University

(1/12035) Association of polymorphism at the type I collagen (COL1A1) locus with reduced bone mineral density, increased fracture risk, and increased collagen turnover.

OBJECTIVE: To examine the relationship between a common polymorphism within intron 1 of the COL1A1 gene and osteoporosis in a nested case-control study. METHODS: We studied 185 healthy women (mean +/- SD age 54.3+/-4.6 years). Bone mineral density (BMD) was measured using dual x-ray absorptiometry, and fractures were determined radiographically. The COL1A1 genotype was assessed using the polymerase chain reaction and Bal I endonuclease digestion. RESULTS: Genotype frequencies were similar to those previously observed and in Hardy-Weinberg equilibrium: SS 61.1%, Ss 36.2%, and ss 2.7%. Carriage of at least one copy of the "s" allele was associated with a significant reduction in lumbar spine BMD (P = 0.02) and an increased risk of total fracture (P = 0.04). Urinary pyridinoline levels were significantly elevated in those with the risk allele (P < 0.05). CONCLUSION: These data support the findings that the COL1A1 gene polymorphism is associated with low BMD and fracture risk, and suggest a possible physiologic effect on total body turnover of type I collagen.  (+info)

(2/12035) A novel method for determining linkage between DNA sequences: hybridization to paired probe arrays.

Cooperative hybridization has been used to establish physical linkage between two loci on a DNA strand. Linkage was detected by hybridization to a new type of high-density oligonucleotide array. Each synthesis location on the array contains a mixture of two different probe sequences. Each of the two probes can hybridize independently to a different target sequence, but if the two target sequences are physically linked there is a cooperative increase in hybridization yield. The ability to create and control non-linear effects raises a host of possibilities for applications of oligonucleotide array hybridization. The method has been used to assign linkage in 50:50 mixtures of DNA containing single nucleotide polymorphisms (SNPs) separated by 17, 693, 1350 and 2038 bp and to reconstruct haplotypes. Other potential uses include increasing the specificity of hybridization in mutation detection and gene expression monitoring applications, determining SNP haplotypes, characterizing repetitive sequences, such as short tandem repeats, and aiding contig assembly in sequen-cing by hybridization.  (+info)

(3/12035) The haplotype distribution of two genes of citrus tristeza virus is altered after host change or aphid transmission.

Genetic variability of citrus tristeza virus (CTV) was studied using the haplotypes detected by single-strand conformation polymorphism (SSCP) analysis of genes p18 and p20 in six virus populations of two origins. The Spanish group included a CTV isolate and subisolates obtained by graft-transmission to different host species. The other included two subisolates aphid-transmitted from a single Japanese isolate. The homozygosity observed for gene p20 was always significantly higher than that expected under neutral evolution, whereas only three populations showed high homozygosity for p18, suggesting stronger host constraints for p20 than for p18. Sequential transmissions of a Spanish isolate to new host species increased the difference between its population and that of the successive subisolates for gene p18, as estimated by the F statistic. Analysis of molecular variance indicated that variation between both groups of populations was not statistically significant, whereas variations between populations of the same group or within populations were significant for both genes studied. Our data indicate that selection affects the haplotype distribution and that adaptation to a new host can be as important or more as the geographical origin. Variation of the CTV populations after host change or aphid transmission may explain in part the wide biological variability observed among CTV isolates.  (+info)

(4/12035) DYT1 mutation in French families with idiopathic torsion dystonia.

A GAG deletion at position 946 in DYT1, one of the genes responsible for autosomal dominant idiopathic torsion dystonia (ITD), has recently been identified. We tested 24 families and six isolated cases with ITD and found 14 individuals from six French families who carried this mutation, indicating that 20% of the affected families carried the DYT1 mutation. Age at onset was always before 20 years (mean, 9+/-4 years). Interestingly, the site of onset was the upper limb in all but one patient. Dystonia was generalized in seven patients and remained focal or segmental in three patients. The absence of common haplotypes among DYT1 families suggests that at least six independent founder mutations have occurred. In addition, one Ashkenazi Jewish family carried the common haplotype described previously in Ashkenazi Jewish patients, but it was absent in the other family. Moreover, the dystonia remained focal in the latter family when compared with the usual generalized phenotype in patients with the common Ashkenazi Jewish haplotype. This indicates that there are at least two founder mutations in this population.  (+info)

(5/12035) A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer.

The frequency, origin, and phenotypic expression of a germline MSH2 gene mutation previously identified in seven kindreds with hereditary non-polyposis cancer syndrome (HNPCC) was investigated. The mutation (A-->T at nt943+3) disrupts the 3' splice site of exon 5 leading to the deletion of this exon from MSH2 mRNA and represents the only frequent MSH2 mutation so far reported. Although this mutation was initially detected in four of 33 colorectal cancer families analysed from eastern England, more extensive analysis has reduced the frequency to four of 52 (8%) English HNPCC kindreds analysed. In contrast, the MSH2 mutation was identified in 10 of 20 (50%) separately identified colorectal families from Newfoundland. To investigate the origin of this mutation in colorectal cancer families from England (n=4), Newfoundland (n=10), and the United States (n=3), haplotype analysis using microsatellite markers linked to MSH2 was performed. Within the English and US families there was little evidence for a recent common origin of the MSH2 splice site mutation in most families. In contrast, a common haplotype was identified at the two flanking markers (CA5 and D2S288) in eight of the Newfoundland families. These findings suggested a founder effect within Newfoundland similar to that reported by others for two MLH1 mutations in Finnish HNPCC families. We calculated age related risks of all, colorectal, endometrial, and ovarian cancers in nt943+3 A-->T MSH2 mutation carriers (n=76) for all patients and for men and women separately. For both sexes combined, the penetrances at age 60 years for all cancers and for colorectal cancer were 0.86 and 0.57, respectively. The risk of colorectal cancer was significantly higher (p<0.01) in males than females (0.63 v 0.30 and 0.84 v 0.44 at ages 50 and 60 years, respectively). For females there was a high risk of endometrial cancer (0.5 at age 60 years) and premenopausal ovarian cancer (0.2 at 50 years). These intersex differences in colorectal cancer risks have implications for screening programmes and for attempts to identify colorectal cancer susceptibility modifiers.  (+info)

(6/12035) Analysis of spinocerebellar ataxia type 2 gene and haplotype analysis: (CCG)1-2 polymorphism and contribution to founder effect.

Spinocerebellar ataxia type 2 is a familial spinocerebellar ataxia with autosomal dominant inheritance. The gene responsible was recently cloned and this disorder was found to be the result of a CAG expansion in its open reading frame. We analysed 13 SCA2 patients in seven unrelated families in Gunma Prefecture, Japan. In four of the seven families, we detected CCG or CCGCCG interruptions in only the expanded alleles. Cosegregation of these polymorphisms with SCA2 patients was established within each family. Together with the results of haplotype analyses, we considered that at least two founders were present in our area and that these (CCG)1-2 polymorphisms may make analysis of founder effects easier. By sequencing analysis we found that although the number of the long CAG repeat varied in each subclone of expanded alleles, these polymorphisms did not change their configuration. This finding suggests that CCG or CCGCCG sequences are stable when surrounded by the long CAG repeat and a single CAG. Moreover, the presence of these polymorphisms may lead to miscounting the repeat size by conventional estimation using a size marker such as an M13 sequencing ladder. Therefore we should consider these polymorphisms and accurately determine the repeat size by sequencing.  (+info)

(7/12035) Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11.

Derivative 22 (der[22]) syndrome is a rare disorder associated with multiple congenital anomalies, including profound mental retardation, preauricular skin tags or pits, and conotruncal heart defects. It can occur in offspring of carriers of the constitutional t(11;22)(q23;q11) translocation, owing to a 3:1 meiotic malsegregation event resulting in partial trisomy of chromosomes 11 and 22. The trisomic region on chromosome 22 overlaps the region hemizygously deleted in another congenital anomaly disorder, velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS). Most patients with VCFS/DGS have a similar 3-Mb deletion, whereas some have a nested distal deletion endpoint resulting in a 1.5-Mb deletion, and a few rare patients have unique deletions. To define the interval on 22q11 containing the t(11;22) breakpoint, haplotype analysis and FISH mapping were performed for five patients with der(22) syndrome. Analysis of all the patients was consistent with 3:1 meiotic malsegregation in the t(11;22) carrier parent. FISH-mapping studies showed that the t(11;22) breakpoint occurred in the same interval as the 1.5-Mb distal deletion breakpoint for VCFS. The deletion breakpoint of one VCFS patient with an unbalanced t(18;22) translocation also occurred in the same region. Hamster-human somatic hybrid cell lines from a patient with der(22) syndrome and a patient with VCFS showed that the breakpoints occurred in an interval containing low-copy repeats, distal to RANBP1 and proximal to ZNF74. The presence of low-copy repetitive sequences may confer susceptibility to chromosome rearrangements. A 1.5-Mb region of overlap on 22q11 in both syndromes suggests the presence of dosage-dependent genes in this interval.  (+info)

(8/12035) Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a clinically homogeneous form of early-onset familial spastic ataxia with prominent myelinated retinal nerve fibers. More than 300 patients have been identified, and most of their families originated in the Charlevoix-Saguenay region of northeastern Quebec, where the carrier prevalence has been estimated to be 1/22. Consistent with the hypothesis of a founder effect, we observed excess shared homozygosity at 13q11, among patients in a genomewide scan of 12 families. Analysis of 19 pedigrees demonstrated very tight linkage between the ARSACS locus and an intragenic polymorphism of the gamma-sarcoglycan (SGCG) gene, but genomic DNA sequence analysis of all eight exons of SGCG revealed no disease-causing mutation. On the basis of haplotypes composed of seven marker loci that spanned 11.1 cM, the most likely position of the ARSACS locus was 0.42 cM distal to the SGCG polymorphism. Two groups of ARSACS-associated haplotypes were identified: a large group that carries a common SGCG allele and a small group that carries a rare SGCG allele. The haplotype groups do not appear to be closely related. Therefore, although chromosomes within each haplotype group may harbor a single ARSACS mutation identical by descent, the two mutations could have independent origins.  (+info)


what are four ways to achieve genetic variations?


Well that's exactly what i need to know lol. It has to do with biology.
----------

1) Single "letter" variations (called SNPs -- these often get inherited together in blocks called haplotypes), 2) additions or deletions (InDels) of DNA units, 3) repetitions like those that underlie forensic DNA tests, and 4) flipping of large segments of DNA within a chromosome.


Why do most natural blondes have blue eyes?


I have always wondered... most natural blondes like (light blonde not dark blonde) have blue eyes why is this ?
----------

Blond hair combined with fair skin & blue eyes is a haplotype. This is a set of several homogeneous characteristics that all became common to an isolated population with a small gene pool. Through many generations that population became fairly homogeneous for each gene that makes up that haplotype. The Scandinavians were isolated long enough to develop a typical appearance just as the Irish or the Slavic people each had a shared set of genetic markers; a set of genetic traits that was fairly homogeneous. 
In the high latitudes it became critical to lower melanin levels to ensure sufficient Vitamin D synthesis but each region drifted to its own haplotype version. Sexual selection probably played a role in each population to align specific eye and hair color combinations.
 Scotland has ~12% of the population that express red hair (so ~40% carry the gene as recessive) but Europe in general has only ~2 % with red hair. Scotland has a haplotype that includes red hair from the MC1R gene.
 http://www.gnxp.com/blog/2005/08/beyond-…
 These haplogroups established some 10 - 20,000 years ago when travel was not easy or common so people kept to their own valley to find partners. It is essentially regional inbreeding. 
Later tribal groupings began to form larger associations some 2,000-1,000 years ago as civilizations began to flourish and trade. So these haplotypes became known with groups such as the Scandinavian tribes or the many Germanic & Slavic tribes.
 http://en.wikipedia.org/wiki/Haplogroup_…
 Today these haplotypes are being remixed into the global population so mixtures of familiar haplotypes appear. This does not mean the genes are disappearing but rather they are being remixed by sexual recombination with other haplotypes. This means the people are heterogeneous for those genes.


Can Anyone Be Allergic to to Something that is Exclusively a Polysaccharide (Haptenization Excluded)?


Thanks Very Much Argie.
----------

Allergies as a hypersensitivity type I (IgE mediated)phenomenon, no. In my immunology book (published recently) says that the immune response to Polysaccharides is solely by B1 and B from the marginal spleen zone (BMZ) lymphocytes.  Their activation do not require collaboration by Th2 cells.  They only generate IgM, and sometimes IgA, IgG2.  The B1 generate the so called "natural antibodies".
Only B2 lymphocytes can be activated by Th2 cells and form a secondary follicle in lymphoid tissue and therefore by the mechanism of selection, the ones with the better "affinity" for the antigen receive a survival signal by a T cell (apparently it's not very clear the nature of this cell Th1-Th2?) and make the isotopic switch to IgE (or IgG, etc.), since their first antibody is IgM.  Only a small population of the B2 go their separate way and generate the initial IgM antibodies (low affinity) in the early stages of immune response.
Now, you said Haptenization Excluded, and that's the interesting part.  The phenomenon of haptenization in combined vaccines (for example with a capsule polysaccharides and a bacterial toxin, protein) is based in the immunological physiology.  The protein allows the collaboration of Th2 cells with the B2, otherwise, if the vaccine was only a Polysaccharides, the response would not last in time and it would be the low-affinity IgM (when the desired one is long-lasting IgG)
Also, adding a small detail, we still don't know clearly what are the particular signals that makes the B cell change to IgE instead of IgGs.  Apparently it has to do with the interaction of this uncertain T cell in the folicle. Also, we know certain allergies relate to HLA haplotypes.


how common is diabetes in children?


U.S.? Worldwide? & Why would this be different or similar?
----------

In the U.S. the incidence of type 1 diabetes is 1.7/1000 (ages 0-19).  About 13,000/year are diagnosed with type 1.  Some European studies show that the incidence of type 1 diabetes is increasing.  We don't know if this is true in the U.S. or not.  We don't know of an exact gene (or genes) that cause diabetes, but we do know that certain HLA haplotypes increase the risk.  However, not everybody with those "risky" HLAs will get diabetes.  It's likely that environment also plays a role.  Some have proposed a virus, although this is far from proven.

Type 2 diabetes in youth used to be unheard of and is increasing.  It's believed that the sedentary lifestyle and poor/fast food diet are the contributing factors.  It's hard to come up with a good number, but a minimum number is believed to be .53/100000/year.  Almost all of those are both overweight and have a family history of type 2 diabetes.


Who knows about essential penosuria, an enzyme deficiency disease associated with Ashkenazi Jews genetically?


As a medical student, I am studying about this in Biochemistry.  It is being reported as clinically asymptomaticand benign.However, I was  wondering if it may have some mild symptoms.  All my life I have a feeling of weakness and sickness after drinking some fruit juices and eating large amount of fruits such as grapes and plums.  These are associated with the disease.  This weakness goes away shortly and there are no other other symptoms.  I also wonder about my lineage.  I am descended on my mother's side from Polish ancestors but I was brought to believe we were all catholics...no one talked about any Jewish ancestry.  If I have the condition would it mean I had the Jewish ancestry?  Maybe someone was afraid to admit it?  I would appreciate any info.
----------

According to OMIM, you could also be Lebanese.

I would say that unless you have been tested and found to excrete a large amount of penTose into your urine, or have been tested and found to carry the Ashkenazi mutation in the relevant gene or an Ashkenazi haplotype for the area surrounding the gene, then you are jumping the gun about looking for your Jewish roots.  Also note that since the trait is recessive, you would actually have to have hidden Jewish - or Lebanese - roots on both sides of your family.

It isn't impossible, of course, but you might want to actually have data to go on, rather than only your subjective feelings about a fruit associated weakness - especially since the condition is 'clinically asymptomatic'.


What does this mean and could it affect me?


I read this on Wikipedia:

The North American ancestry of the X-linked form of the genetic disease, congenital nephrogenic diabetes insipidus, has been traced to Ulster Scots who came to Nova Scotia in 1761 on the ship Hopewell.

In X-linked nephrogenic diabetes insipidus (NDI) the urine of male patients is not concentrated after the administration of the antidiuretic hormone arginine-vasopressin. This disease is due to mutations in the V2 receptor gene that maps to chromosome region Xq28. In 1969, Bode and Crawford suggested that most NDI patients in North America shared common ancestors of Ulster Scot immigrants who arrived in Halifax in 1761 on the ship Hopewell. A link between this family and a large Utah kindred was also suggested. DNA was obtained from 17 affected male patients from the "Hopewell" kindred and from four additional families from Nova Scotia and New Brunswick who shared the same Xq28 NDI haplotype. The Utah kindred and two families (Q2, Q3) from Quebec were also studied. The "Hopewell" mutation, W71X, is a single base substitution (G-->A) that changes codon 71 from TGG (tryptophan) to TGA (stop). The W71X mutation was found in affected members of the Hopewell and of the four satellite families. The W71X mutation is the cause of X-linked NDI for the largest number of related male patients living in North America. Other families (Utah, Q2 and Q3) that are historically and ethnically unrelated bear other mutations in the V2 receptor gene.

In the USA, Ulster Scots are called Scots-Irish or Scotch-Irish.

So does this affect all Scotch-Irish or just the ones in Nova Scotia? Also I'm about 1/4 Scotch-Irish, 1/4 Native American, 1/8 Spanish, 1/8 Other, and around 1/4 English, so would I have less of a chance to get this?
----------

Good answers to the same question you posted in Genealogy:
http://answers.yahoo.com/question/index;_ylt=AgQhq44jcJ17AttSbMyOncsjzKIX;_ylv=3?qid=20110203120702AAjpTrz


Primary sclerosing cholangitis?


i have Primary sclerosing cholangitis and i've been told people with Primary sclerosing cholangitis die 10 years after Diagnosis which means i have only 6 years left... im thinking to suicide to end my life early. what's the point to live if i know im going to die in 6 years anyways?
----------

I was diagnosed with PSC at the age of 18, in 1992.  So that's 19 years now, and I'm still running on my original liver and my MELD score is about 16, not high enough to list me.  I'll point out something the doc's may not have told you.  PSC rarely kills you.  A gallbladder cancer called cholangiocarcinoma (CC) is your most likely cause of death, followed by cirrhosis (PSC) and then complications from transplant.

Doctors are not statisticians, I am - well, I'm an econometrician, which is a statistician who focuses on economics.  And when you have PSC, you tend to focus your natural skills on the disease.  Here is how PSC lifespan breaks down:

7-10 years is diagnosis to death for "average" patients, which are a mid-40's male having PSC and Ulcerative Colitis who is diagnosed due to blockage.  Fully 1 in 3 of these men already have cholangiocarcinoma, which is 100% fatal.  However, 25% of these people will live more than 20 years.  70% of transplant patients negative for cholangiocarcinoma live for at least 5 more years.

The lifespan for a person with low MELD Score < 19 by age at diagnosis is about:
Under 12, you have 1-3 years to transplant, less than 20% survival rate*
13 to 20's, you have 10-20 years to transplant, 25% odds of death to CC over 35 years
30's, you have 10-15 years to transplant, 35% odds of death to CC over 30 years
40's, you have 7-10 years to transplant, 40% odds of death to CC over 25 years
50's, you have 5-8 years to transplant, 42% odds of death to CC over 20 years
60's, you have 3-5 years to transplant, 45% odds of death to CC over 15 years

*Childhood PSC is a separate disease from adult PSC and much more lethal
The CC lifespans are calculated using Cox-Proportional based on odds and timespans in multiple studies.

If you are female, you add 3 years to transplant and reduce cancer risk by 5%.
If you drink, you subtract 2 years to transplant and DOUBLE your cancer risk
If you are obese, subtract 3 years to transplant, increase cancer risk by 20% and your transplant survival is only 50%
If you do not develop an IBD, add 3 years to transplant and reduce cancer by 10%.
If you are of Irish or Scottish descent or known to have the DR3 haplotype, subtract 1 year and add 5% to cancer risk.

So if you are in your 20's, your lifespan is more like 25+ years if you don't drink, exercise regularly and take a lot of anti-cancer supplements.   25 years is a lot of time for Medicine to invent a cure.  Wish I still had that, I'm looking at changing out the liver in under 7.


How is wilson's disease diagnosed ?


The diagnosis of Wilson's Disease is made by relatively simple tests. The tests can diagnose the disease in both symptomatic patients and people who show no signs of the disease. These tests can include:

    *
      Opthalmalogic slit lamp examination for Kayser-Fleischer rings, brownish colored rings around the corneas of the eyes.
    *
      Serum ceruloplasmin test
    *
      24-hour urine copper test
    *
      Liver biopsy for histology and histochemistry and copper quantification
    *
      Genetic testing, haplotype analysis for siblings and mutation analysis.  

It is important to diagnose Wilson's Disease as early as possible, since severe liver damage can occur before there are any signs of the disease. Individuals with Wilson's Disease may falsely appear to be in excellent health. For additional information, refer to the Boston University Medical Campus website at http://www.bumc.bu.edu/ or consult with your physician.


  • 1