Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Gene Frequency: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.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.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.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.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.Genetic Variation: Genotypic differences observed among individuals in a population.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.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.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.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.Asian Continental Ancestry Group: Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.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.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.Genotyping Techniques: Methods used to determine individuals' specific ALLELES or SNPS (single nucleotide polymorphisms).European Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Europe.Homozygote: An individual in which both alleles at a given locus are identical.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.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.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.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.China: A country spanning from central Asia to the Pacific Ocean.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.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.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.Hepacivirus: A genus of FLAVIVIRIDAE causing parenterally-transmitted HEPATITIS C which is associated with transfusions and drug abuse. Hepatitis C virus is the type species.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.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.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.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.Molecular Epidemiology: The application of molecular biology to the answering of epidemiological questions. The examination of patterns of changes in DNA to implicate particular carcinogens and the use of molecular markers to predict which individuals are at highest risk for a disease are common examples.Methylenetetrahydrofolate Reductase (NADPH2): A flavoprotein amine oxidoreductase that catalyzes the reversible conversion of 5-methyltetrahydrofolate to 5,10-methylenetetrahydrofolate. This enzyme was formerly classified as EC 1.1.1.171.Cohort Studies: Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.Pharmacogenetics: A branch of genetics which deals with the genetic variability in individual responses to drugs and drug metabolism (BIOTRANSFORMATION).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).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.Cluster Analysis: A set of statistical methods used to group variables or observations into strongly inter-related subgroups. In epidemiology, it may be used to analyze a closely grouped series of events or cases of disease or other health-related phenomenon with well-defined distribution patterns in relation to time or place or both.HapMap Project: A coordinated international effort to identify and catalog patterns of linked variations (HAPLOTYPES) found in the human genome across the entire human population.Catechol O-Methyltransferase: Enzyme that catalyzes the movement of a methyl group from S-adenosylmethionone to a catechol or a catecholamine.Odds Ratio: The ratio of two odds. The exposure-odds ratio for case control data is the ratio of the odds in favor of exposure among cases to the odds in favor of exposure among noncases. The disease-odds ratio for a cohort or cross section is the ratio of the odds in favor of disease among the exposed to the odds in favor of disease among the unexposed. The prevalence-odds ratio refers to an odds ratio derived cross-sectionally from studies of prevalent cases.Epistasis, Genetic: A form of gene interaction whereby the expression of one gene interferes with or masks the expression of a different gene or genes. Genes whose expression interferes with or masks the effects of other genes are said to be epistatic to the effected genes. Genes whose expression is affected (blocked or masked) are hypostatic to the interfering genes.Glutathione Transferase: A transferase that catalyzes the addition of aliphatic, aromatic, or heterocyclic FREE RADICALS as well as EPOXIDES and arene oxides to GLUTATHIONE. Addition takes place at the SULFUR. It also catalyzes the reduction of polyol nitrate by glutathione to polyol and nitrite.Hepatitis C, Chronic: INFLAMMATION of the LIVER in humans that is caused by HEPATITIS C VIRUS lasting six months or more. Chronic hepatitis C can lead to LIVER CIRRHOSIS.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Hepatitis C: INFLAMMATION of the LIVER in humans caused by HEPATITIS C VIRUS, a single-stranded RNA virus. Its incubation period is 30-90 days. Hepatitis C is transmitted primarily by contaminated blood parenterally, and is often associated with transfusion and intravenous drug abuse. However, in a significant number of cases, the source of hepatitis C infection is unknown.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.JapanGene-Environment Interaction: The combined effects of genotypes and environmental factors together on phenotypic characteristics.Algorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.RNA, Viral: Ribonucleic acid that makes up the genetic material of viruses.Databases, Genetic: Databases devoted to knowledge about specific genes and gene products.Ribavirin: A nucleoside antimetabolite antiviral agent that blocks nucleic acid synthesis and is used against both RNA and DNA viruses.Hepatitis B virus: The type species of the genus ORTHOHEPADNAVIRUS which causes human HEPATITIS B and is also apparently a causal agent in human HEPATOCELLULAR CARCINOMA. The Dane particle is an intact hepatitis virion, named after its discoverer. Non-infectious spherical and tubular particles are also seen in the serum.Software: Sequential operating programs and data which instruct the functioning of a digital computer.Peptidyl-Dipeptidase A: A peptidyl-dipeptidase that catalyzes the release of a C-terminal dipeptide, -Xaa-*-Xbb-Xcc, when neither Xaa nor Xbb is Pro. It is a Cl(-)-dependent, zinc glycoprotein that is generally membrane-bound and active at neutral pH. It may also have endopeptidase activity on some substrates. (From Enzyme Nomenclature, 1992) EC 3.4.15.1.INDEL Mutation: A mutation named with the blend of insertion and deletion. It refers to a length difference between two ALLELES where it is unknowable if the difference was originally caused by a SEQUENCE INSERTION or by a SEQUENCE DELETION. If the number of nucleotides in the insertion/deletion is not divisible by three, and it occurs in a protein coding region, it is also a FRAMESHIFT MUTATION.Aryl Hydrocarbon Hydroxylases: A large group of cytochrome P-450 (heme-thiolate) monooxygenases that complex with NAD(P)H-FLAVIN OXIDOREDUCTASE in numerous mixed-function oxidations of aromatic compounds. They catalyze hydroxylation of a broad spectrum of substrates and are important in the metabolism of steroids, drugs, and toxins such as PHENOBARBITAL, carcinogens, and insecticides.Antiviral Agents: Agents used in the prophylaxis or therapy of VIRUS DISEASES. Some of the ways they may act include preventing viral replication by inhibiting viral DNA polymerase; binding to specific cell-surface receptors and inhibiting viral penetration or uncoating; inhibiting viral protein synthesis; or blocking late stages of virus assembly.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.Genetic Testing: Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.Breeding: The production of offspring by selective mating or HYBRIDIZATION, GENETIC in animals or plants.Risk: The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome.Apolipoproteins E: A class of protein components which can be found in several lipoproteins including HIGH-DENSITY LIPOPROTEINS; VERY-LOW-DENSITY LIPOPROTEINS; and CHYLOMICRONS. Synthesized in most organs, Apo E is important in the global transport of lipids and cholesterol throughout the body. Apo E is also a ligand for LDL receptors (RECEPTORS, LDL) that mediates the binding, internalization, and catabolism of lipoprotein particles in cells. There are several allelic isoforms (such as E2, E3, and E4). Deficiency or defects in Apo E are causes of HYPERLIPOPROTEINEMIA TYPE III.Minisatellite Repeats: Tandem arrays of moderately repetitive, short (10-60 bases) DNA sequences which are found dispersed throughout the GENOME, at the ends of chromosomes (TELOMERES), and clustered near telomeres. Their degree of repetition is two to several hundred at each locus. Loci number in the thousands but each locus shows a distinctive repeat unit.Arylamine N-Acetyltransferase: An enzyme that catalyzes the transfer of acetyl groups from ACETYL-COA to arylamines. It can also catalyze acetyl transfer between arylamines without COENZYME A and has a wide specificity for aromatic amines, including SEROTONIN. However, arylamine N-acetyltransferase should not be confused with the enzyme ARYLALKYLAMINE N-ACETYLTRANSFERASE which is also referred to as SEROTONIN ACETYLTRANSFERASE.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.Genomics: The systematic study of the complete DNA sequences (GENOME) of organisms.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.Selection, Genetic: Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.Quantitative Trait, Heritable: A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)Interferon-alpha: One of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells. In addition to antiviral activity, it activates NATURAL KILLER CELLS and B-LYMPHOCYTES, and down-regulates VASCULAR ENDOTHELIAL GROWTH FACTOR expression through PI-3 KINASE and MAPK KINASES signaling pathways.Age of Onset: The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.Computational Biology: A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories for solving biological problems including manipulation of models and datasets.Logistic Models: Statistical models which describe the relationship between a qualitative dependent variable (that is, one which can take only certain discrete values, such as the presence or absence of a disease) and an independent variable. A common application is in epidemiology for estimating an individual's risk (probability of a disease) as a function of a given risk factor.African Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Africa.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Serotonin Plasma Membrane Transport Proteins: Sodium chloride-dependent neurotransmitter symporters located primarily on the PLASMA MEMBRANE of serotonergic neurons. They are different than SEROTONIN RECEPTORS, which signal cellular responses to SEROTONIN. They remove SEROTONIN from the EXTRACELLULAR SPACE by high affinity reuptake into PRESYNAPTIC TERMINALS. Regulates signal amplitude and duration at serotonergic synapses and is the site of action of the SEROTONIN UPTAKE INHIBITORS.African Americans: Persons living in the United States having origins in any of the black groups of Africa.Oligonucleotide Array Sequence Analysis: Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.DNA, Viral: Deoxyribonucleic acid that makes up the genetic material of viruses.Amino Acid Substitution: The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.Genome, Viral: The complete genetic complement contained in a DNA or RNA molecule in a virus.Reproducibility of Results: The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results.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).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.Apolipoprotein E4: A major and the second most common isoform of apolipoprotein E. In humans, Apo E4 differs from APOLIPOPROTEIN E3 at only one residue 112 (cysteine is replaced by arginine), and exhibits a lower resistance to denaturation and greater propensity to form folded intermediates. Apo E4 is a risk factor for ALZHEIMER DISEASE and CARDIOVASCULAR DISEASES.Crosses, Genetic: Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.Diabetes Mellitus, Type 2: A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY.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.Ethnic Groups: A group of people with a common cultural heritage that sets them apart from others in a variety of social relationships.Smoking: Inhaling and exhaling the smoke of burning TOBACCO.Prevalence: The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.Polyethylene Glycols: Polymers of ETHYLENE OXIDE and water, and their ethers. They vary in consistency from liquid to solid depending on the molecular weight indicated by a number following the name. They are used as SURFACTANTS, dispersing agents, solvents, ointment and suppository bases, vehicles, and tablet excipients. Some specific groups are NONOXYNOLS, OCTOXYNOLS, and POLOXAMERS.DNA Fingerprinting: A technique for identifying individuals of a species that is based on the uniqueness of their DNA sequence. Uniqueness is determined by identifying which combination of allelic variations occur in the individual at a statistically relevant number of different loci. In forensic studies, RESTRICTION FRAGMENT LENGTH POLYMORPHISM of multiple, highly polymorphic VNTR LOCI or MICROSATELLITE REPEAT loci are analyzed. The number of loci used for the profile depends on the ALLELE FREQUENCY in the population.Korea: Former kingdom, located on Korea Peninsula between Sea of Japan and Yellow Sea on east coast of Asia. In 1948, the kingdom ceased and two independent countries were formed, divided by the 38th parallel.Computer Simulation: Computer-based representation of physical systems and phenomena such as chemical processes.Molecular Typing: Using MOLECULAR BIOLOGY techniques, such as DNA SEQUENCE ANALYSIS; PULSED-FIELD GEL ELECTROPHORESIS; and DNA FINGERPRINTING, to identify, classify, and compare organisms and their subtypes.Glutathione S-Transferase pi: A glutathione transferase that catalyzes the conjugation of electrophilic substrates to GLUTATHIONE. This enzyme has been shown to provide cellular protection against redox-mediated damage by FREE RADICALS.Cytochrome P-450 CYP2D6: A cytochrome P450 enzyme that catalyzes the hydroxylation of many drugs and environmental chemicals, such as DEBRISOQUINE; ADRENERGIC RECEPTOR ANTAGONISTS; and TRICYCLIC ANTIDEPRESSANTS. This enzyme is deficient in up to 10 percent of the Caucasian population.Inheritance Patterns: The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.IndiaModels, Statistical: Statistical formulations or analyses which, when applied to data and found to fit the data, are then used to verify the assumptions and parameters used in the analysis. Examples of statistical models are the linear model, binomial model, polynomial model, two-parameter model, etc.Expressed Sequence Tags: Partial cDNA (DNA, COMPLEMENTARY) sequences that are unique to the cDNAs from which they were derived.Sequence Alignment: The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.Likelihood 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.EuropeViral Load: The quantity of measurable virus in a body fluid. Change in viral load, measured in plasma, is sometimes used as a SURROGATE MARKER in disease progression.DNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Bacterial Typing Techniques: Procedures for identifying types and strains of bacteria. The most frequently employed typing systems are BACTERIOPHAGE TYPING and SEROTYPING as well as bacteriocin typing and biotyping.BrazilHigh-Throughput Nucleotide Sequencing: Techniques of nucleotide sequence analysis that increase the range, complexity, sensitivity, and accuracy of results by greatly increasing the scale of operations and thus the number of nucleotides, and the number of copies of each nucleotide sequenced. The sequencing may be done by analysis of the synthesis or ligation products, hybridization to preexisting sequences, etc.Cattle: Domesticated bovine animals of the genus Bos, usually kept on a farm or ranch and used for the production of meat or dairy products or for heavy labor.Hepatitis B: INFLAMMATION of the LIVER in humans caused by a member of the ORTHOHEPADNAVIRUS genus, HEPATITIS B VIRUS. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact.Hepatitis E virus: A positive-stranded RNA virus species in the genus HEPEVIRUS, causing enterically-transmitted non-A, non-B hepatitis (HEPATITIS E).Chi-Square Distribution: A distribution in which a variable is distributed like the sum of the squares of any given independent random variable, each of which has a normal distribution with mean of zero and variance of one. The chi-square test is a statistical test based on comparison of a test statistic to a chi-square distribution. The oldest of these tests are used to detect whether two or more population distributions differ from one another.Prospective Studies: Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.Reverse Transcriptase Polymerase Chain Reaction: A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.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.3' Untranslated Regions: The sequence at the 3' end of messenger RNA that does not code for product. This region contains transcription and translation regulating sequences.Mannose-Binding Lectin: A specific mannose-binding member of the collectin family of lectins. It binds to carbohydrate groups on invading pathogens and plays a key role in the MANNOSE-BINDING LECTIN COMPLEMENT PATHWAY.Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)Hepatitis B, Chronic: INFLAMMATION of the LIVER in humans caused by HEPATITIS B VIRUS lasting six months or more. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact.5' Untranslated Regions: The sequence at the 5' end of the messenger RNA that does not code for product. This sequence contains the ribosome binding site and other transcription and translation regulating sequences.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Databases, Nucleic Acid: Databases containing information about NUCLEIC ACIDS such as BASE SEQUENCE; SNPS; NUCLEIC ACID CONFORMATION; and other properties. Information about the DNA fragments kept in a GENE LIBRARY or GENOMIC LIBRARY is often maintained in DNA databases.Sequence Homology: The degree of similarity between sequences. Studies of AMINO ACID SEQUENCE HOMOLOGY and NUCLEIC ACID SEQUENCE HOMOLOGY provide useful information about the genetic relatedness of genes, gene products, and species.Principal Component Analysis: Mathematical procedure that transforms a number of possibly correlated variables into a smaller number of uncorrelated variables called principal components.Viral Nonstructural Proteins: Proteins encoded by a VIRAL GENOME that are produced in the organisms they infect, but not packaged into the VIRUS PARTICLES. Some of these proteins may play roles within the infected cell during VIRUS REPLICATION or act in regulation of virus replication or VIRUS ASSEMBLY.Sensitivity and Specificity: Binary classification measures to assess test results. Sensitivity or recall rate is the proportion of true positives. Specificity is the probability of correctly determining the absence of a condition. (From Last, Dictionary of Epidemiology, 2d ed)Linear Models: Statistical models in which the value of a parameter for a given value of a factor is assumed to be equal to a + bx, where a and b are constants. The models predict a linear regression.Hepatitis E: Acute INFLAMMATION of the LIVER in humans; caused by HEPATITIS E VIRUS, a non-enveloped single-stranded RNA virus. Similar to HEPATITIS A, its incubation period is 15-60 days and is enterically transmitted, usually by fecal-oral transmission.DNA, Protozoan: Deoxyribonucleic acid that makes up the genetic material of protozoa.Population Groups: Individuals classified according to their sex, racial origin, religion, common place of living, financial or social status, or some other cultural or behavioral attribute. (UMLS, 2003)TaiwanTreatment Outcome: Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.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.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)Breast Neoplasms: Tumors or cancer of the human BREAST.Bayes Theorem: A theorem in probability theory named for Thomas Bayes (1702-1761). In epidemiology, it is used to obtain the probability of disease in a group of people with some characteristic on the basis of the overall rate of that disease and of the likelihood of that characteristic in healthy and diseased individuals. The most familiar application is in clinical decision analysis where it is used for estimating the probability of a particular diagnosis given the appearance of some symptoms or test result.Genome, Plant: The genetic complement of a plant (PLANTS) as represented in its DNA.ItalyMultifactorial Inheritance: A phenotypic outcome (physical characteristic or disease predisposition) that is determined by more than one gene. Polygenic refers to those determined by many genes, while oligogenic refers to those determined by a few genes.Genetic Heterogeneity: The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)Regression Analysis: Procedures for finding the mathematical function which best describes the relationship between a dependent variable and one or more independent variables. In linear regression (see LINEAR MODELS) the relationship is constrained to be a straight line and LEAST-SQUARES ANALYSIS is used to determine the best fit. In logistic regression (see LOGISTIC MODELS) the dependent variable is qualitative rather than continuously variable and LIKELIHOOD FUNCTIONS are used to find the best relationship. In multiple regression, the dependent variable is considered to depend on more than a single independent variable.Receptors, Calcitriol: Proteins, usually found in the cytoplasm, that specifically bind calcitriol, migrate to the nucleus, and regulate transcription of specific segments of DNA with the participation of D receptor interacting proteins (called DRIP). Vitamin D is converted in the liver and kidney to calcitriol and ultimately acts through these receptors.Vitamin K Epoxide Reductases: OXIDOREDUCTASES which mediate vitamin K metabolism by converting inactive vitamin K 2,3-epoxide to active vitamin K.Chromosomes, Human, Pair 6: A specific pair GROUP C CHROMSOMES of the human chromosome classification.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Environment: The external elements and conditions which surround, influence, and affect the life and development of an organism or population.Hybridization, Genetic: The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.Oxidoreductases Acting on CH-NH Group Donors: Enzymes catalyzing the dehydrogenation of secondary amines, introducing a C=N double bond as the primary reaction. In some cases this is later hydrolyzed.Analysis of Variance: A statistical technique that isolates and assesses the contributions of categorical independent variables to variation in the mean of a continuous dependent variable.Gene Expression Profiling: The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.Disease Progression: The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.MexicoGene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.Risk Assessment: The qualitative or quantitative estimation of the likelihood of adverse effects that may result from exposure to specified health hazards or from the absence of beneficial influences. (Last, Dictionary of Epidemiology, 1988)Codon: A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE).Rotavirus Infections: Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice.Rotavirus: A genus of REOVIRIDAE, causing acute gastroenteritis in BIRDS and MAMMALS, including humans. Transmission is horizontal and by environmental contamination. Seven species (Rotaviruses A thru G) are recognized.Genetic Techniques: Chromosomal, biochemical, intracellular, and other methods used in the study of genetics.Prognosis: A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.DNA, Plant: Deoxyribonucleic acid that makes up the genetic material of plants.Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.Amplified Fragment Length Polymorphism Analysis: The detection of RESTRICTION FRAGMENT LENGTH POLYMORPHISMS by selective PCR amplification of restriction fragments derived from genomic DNA followed by electrophoretic analysis of the amplified restriction fragments.Sex Factors: Maleness or femaleness as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or effect of a circumstance. It is used with human or animal concepts but should be differentiated from SEX CHARACTERISTICS, anatomical or physiological manifestations of sex, and from SEX DISTRIBUTION, the number of males and females in given circumstances.Chromosomes, Human, Pair 9: A specific pair of GROUP C CHROMSOMES of the human chromosome classification.Tunisia: A country in northern Africa between ALGERIA and LIBYA. Its capital is Tunis.Colorectal Neoplasms: Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.Sex Characteristics: Those characteristics that distinguish one SEX from the other. The primary sex characteristics are the OVARIES and TESTES and their related hormones. Secondary sex characteristics are those which are masculine or feminine but not directly related to reproduction.Random Amplified Polymorphic DNA Technique: Technique that utilizes low-stringency polymerase chain reaction (PCR) amplification with single primers of arbitrary sequence to generate strain-specific arrays of anonymous DNA fragments. RAPD technique may be used to determine taxonomic identity, assess kinship relationships, analyze mixed genome samples, and create specific probes.Spain: Parliamentary democracy located between France on the northeast and Portugual on the west and bordered by the Atlantic Ocean and the Mediterranean Sea.Age Factors: Age as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or the effect of a circumstance. It is used with human or animal concepts but should be differentiated from AGING, a physiological process, and TIME FACTORS which refers only to the passage of time.Glucuronosyltransferase: A family of enzymes accepting a wide range of substrates, including phenols, alcohols, amines, and fatty acids. They function as drug-metabolizing enzymes that catalyze the conjugation of UDPglucuronic acid to a variety of endogenous and exogenous compounds. EC 2.4.1.17.Disease: A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown.Folic Acid: A member of the vitamin B family that stimulates the hematopoietic system. It is present in the liver and kidney and is found in mushrooms, spinach, yeast, green leaves, and grasses (POACEAE). Folic acid is used in the treatment and prevention of folate deficiencies and megaloblastic anemia.Feces: Excrement from the INTESTINES, containing unabsorbed solids, waste products, secretions, and BACTERIA of the DIGESTIVE SYSTEM.Genes, Plant: The functional hereditary units of PLANTS.Family: A social group consisting of parents or parent substitutes and children.Transcription Factor 7-Like 2 Protein: A transcription factor that takes part in WNT signaling pathway. The activity of the protein is regulated via its interaction with BETA CATENIN. Transcription factor 7-like 2 protein plays an important role in the embryogenesis of the PANCREAS and ISLET CELLS.Heterozygote Detection: Identification of genetic carriers for a given trait.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)Mixed Function Oxygenases: Widely distributed enzymes that carry out oxidation-reduction reactions in which one atom of the oxygen molecule is incorporated into the organic substrate; the other oxygen atom is reduced and combined with hydrogen ions to form water. They are also known as monooxygenases or hydroxylases. These reactions require two substrates as reductants for each of the two oxygen atoms. There are different classes of monooxygenases depending on the type of hydrogen-providing cosubstrate (COENZYMES) required in the mixed-function oxidation.Swine: Any of various animals that constitute the family Suidae and comprise stout-bodied, short-legged omnivorous mammals with thick skin, usually covered with coarse bristles, a rather long mobile snout, and small tail. Included are the genera Babyrousa, Phacochoerus (wart hogs), and Sus, the latter containing the domestic pig (see SUS SCROFA).France: A country in western Europe bordered by the Atlantic Ocean, the English Channel, the Mediterranean Sea, and the countries of Belgium, Germany, Italy, Spain, Switzerland, the principalities of Andorra and Monaco, and by the duchy of Luxembourg. Its capital is Paris.GermanyAlzheimer Disease: A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)Genetic Diseases, Inborn: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.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.Molecular Sequence Annotation: The addition of descriptive information about the function or structure of a molecular sequence to its MOLECULAR SEQUENCE DATA record.Disease Outbreaks: Sudden increase in the incidence of a disease. The concept includes EPIDEMICS and PANDEMICS.Meat: The edible portions of any animal used for food including domestic mammals (the major ones being cattle, swine, and sheep) along with poultry, fish, shellfish, and game.ArgentinaSchizophrenia: A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior.Nuclear Family: A family composed of spouses and their children.
"LabCollector Module Monitors SNP Genotyping Workflows". Clinical Lab Products Magazine. 3 November 2014. Retrieved 15 March ... and a module to monitor SNP genotyping workflows AgileBio's Barcode Discount brand was founded in 2001. It offers a range of ...
SNP genotyping is a specific form of genotyping. Deletion/duplication testing is a type of testing designed to detect larger ... "Genotyping SNPs and Other Variants". Illumina. "Current analysis platforms and methods for detecting copy number variation". ... Genotyping is testing that looks at specific variants in a particular area of the genetic code. This technology is limited only ...
Hayden MJ, Nguyen TM, Waterman A, Chalmers KJ (2008). "Multiplex-ready PCR: a new method for multiplexed SSR and SNP genotyping ... Some of the applications of multiplex PCR include: 1. Pathogen Identification 2. High Throughput SNP Genotyping 3. Mutation ... In 2008, multiplex-PCR was used for analysis of microsatellites and SNPs. Multiplex-PCR consists of multiple primer sets within ...
... assay for SNP genotyping". Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis. 573 (1-2): 103-10. doi: ... SNP) assay. Endonucleases Sayers, Jon R. (1994). "Computer Aided Identification of a Potential 5′-3′ Exonuclease Gene Encoded ...
A genome-wide scalable SNP genotyping assay using microarray technology. Nature Genetics 37, 549 - 554 (2005). Steemers, FJ. et ... Whole-genome genotyping with the single-base extension assay. Nature methods, Vol. 3, No. 1, Jan, 31 - 33 (2006). BeadStudio ... Normalization of Illumina Infinium whole-genome SNP data improves copy number estimates and allelic intensity ratios. BMC ...
Although the development of high throughput SNP genotyping technologies has lowered the cost and improved the efficiency of ... Nothnagel, M; Ellinghaus, D; Schreiber, S; Krawczak, M; Franke, A (2009). "A comprehensive evaluation of SNP genotype ... Although the genome of a higher organism (eukaryotes) contains millions of single nucleotide polymorphisms (SNPs), genotyping ... The process allows the scientists to accurately perform analysis of both the genotyped polymorphic markers and the un-genotyped ...
However this phrase may also refer to wet-lab experimental procedures for classifying genotypes at a set of known SNP locations ... In addition to the usual application domain of SNP genotyping, these techniques have been successfully adapted to identify rare ... In addition, since the detection of germline SNVs requires determining the individual's genotype at each locus, the phrase "SNP ... In the context of variant calling, Bayes' Theorem defines the probability of each genotype being the true genotype given the ...
This dual role in SNP genotyping as well as CNV analysis of MIP is similar to the high-density SNP genotyping arrays which have ... 2005 proposed a set of metrics that concern SNP genotyping using MIPs. Single/noise ratio: Ratio of true genotype counts over ... Knowing the genotypes of the parents, the accuracy of the SNP genotypes predicted in the child was determined by examining ... genotyping the same individual several times showed that the genotyped SNPs were concordant (99.9%) High dynamic range: in CNV ...
"Estimation of SNP heritability from dense genotype data". American Journal of Human Genetics. 93 (6): 1151-5. doi:10.1016/j. ... The Human Genome Project has allowed scientists to directly genotype the sequence of human DNA nucleotides.[29] Once genotyped ... SNPs) to estimate genetic variation or covariation that is tagged by SNPs, using mixed effects models implemented in software ... the SNPs. The proportion of phenotypic variation that is accounted for by the genetic relatedness has been called "SNP ...
Of the 95 SNPs none presented a genotype that was an activating mutation. Low mag. High mag. Sinonasal Undifferentiated ... They also studied Single nucleotide polymorphisms (SNPs) located in Vascular endothelial growth factor (VEGF) in order to find ...
You, N.; Murillo, G.; Su, X.; Zeng, X.; Xu, J.; Ning, K.; Zhang, S.; Zhu, J.; Cui, X. (2012). "SNP calling using genotype model ... Another relatively new approach is reduced-representation library (RRL) sequencing which discovers and genotypes SNPs and also ... SNP-array genotyping, BayeScan (which uses the Dirichlet-multinomial distribution)) to place them into defined conservational ... SNP based and phylogenetic analyses were used on both intraspecific and interspecific levels. When looking at the degree of ...
December 2005). "The SNPlex Genotyping System: A Flexible and Scalable Platform for SNP Genotyping". Journal of Biomolecular ... Currently, up to 48 SNPs can be genotyped in a single reaction. Tobler, Andreas R.; Short, S; Andersen, MR; Paner, TM; Briggs, ... SNPlex is a platform for SNP genotyping sold by Applied Biosystems (ABI). It is based on capillary electrophoresis, which ...
PMC 5065634 . Missing or empty ,url= (help); ,access-date= requires ,url= (help) "Product Watch: IdentiGen SNP Genotyping Assay ... and Targeted SNP genotyping. NuGEN technologies provides products that work with different sample types including fresh, frozen ...
... one common SNP was genotyped every 5,000 bases. Overall, more than one million SNPs were genotyped. The genotyping was carried ... For each SNP, the combination of alleles a person has is called a genotype. Genotyping refers to uncovering what genotype a ... genotyped the individuals for these SNPs, and published the results. The alleles of nearby SNPs on a single chromosome are ... these are SNPs that are very well correlated with all the other SNPs in the region. Thus, learning the alleles of the tag SNPs ...
It was leveraged by the development of high-throughput SNP genotyping.[31] ... The study of Population genetics and Statistical genetics in order to link variation in genotype with a variation in phenotype ... There are databases dedicated to SNPs (dbSNP), the knowledge on genes characterization and their pathways (KEGG) and the ... The proposal is to genotype and phenotype a training population, develop a model that can obtain the genomic estimated breeding ...
SNP). The process of identification of plant genotypes is known as genotyping. Development of SNPs has revolutionized the ... So we want to keep genetic background of the recipient genotypes, which is done by 4-6 rounds of repeated backcrosses while ... Another area that is developing is genotyping by sequencing. Phenotyping - phenomics To identify genes associated with traits, ... Genotyping and creating molecular maps - genomics The commonly used markers include Simple sequence repeats (or microsatellites ...
Customers provide a saliva testing sample that is partially SNP genotyped and results are posted online. In 2008, when the ... "Our Service: Genotyping Technology". 23andMe. Retrieved November 27, 2013. Hadly, Scott (November 18, 2013). "23andMe's New ... In late 2009, 23andMe split its genotyping service into three products with different prices, an Ancestry Edition, a Health ... As of June 2015, 23andMe has genotyped over 1,000,000 individuals. FDA marketing restrictions reduced customer growth rates but ...
2009). "Association of MHC SNP genotype with susceptibility to type 1 diabetes: a modified survival approach". Diabetes Obes ... "High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence ...
In one study of premenstrual dysphoric disorder C/C was found as the high-risk genotype. Several studies have examine the SNP ... with a study reporting no apparent influence from the SNP. The SNP has been investigated for association with suicide attempts ... It is one of the most investigated SNPs of its gene. The C-allele is the most prevalent with 0.675 against the G-allele with ... The effect of the SNP on the binding potential of the human 5-HT1A neuroreceptor has been assessed with positron emission ...
Meaburn, E., Butcher, L. M., Schalkwyk, L. C. & Plomin, R. (2006). "Genotyping pooled DNA using 100K SNP microarrays: a step ... With respect to molecular genetics, TEDS has pioneered a novel strategy called SNP Microarrays and Pooling (SNP-MaP), which is ... "Genotyping pooled DNA on microarrays: A systematic genome screen of thousands of SNPs in large samples to detect QTLs for ... "Genotyping DNA pools on microarrays: Tackling the QTL problem of large samples and large numbers of SNPs". BMC Genomics. 6: 52- ...
There are an estimated 15 million SNP (Single-nucleotide polymorphism) sites (out of roughly 3 billion base pairs, or about 0.4 ... Measuring European population stratification with microarray genotype data. American Journal of Human Genetics 80(5): 948-956. ... 112, 387-399 (2003) SNP Science Primer [2] dbSNP Summary [3] Explanation from DNAPrint Genomics. ...
This SNP may be related to alcohol consumption with the atypical genotype having reduced risk of alcoholism. Another SNP is ... 1988). "Genotyping of human alcohol dehydrogenases at the ADH2 and ADH3 loci following DNA sequence amplification". Genomics. 2 ... A single nucleotide polymorphism (SNP) in ADH1B is rs1229984, that changes arginine to histidine at residue 47. The 'typical' ... Green RF, Stoler JM (2007). "Alcohol dehydrogenase 1B genotype and fetal alcohol syndrome: a HuGE minireview". Am. J. Obstet. ...
A region of the genome is considered identical by descent if contiguous SNPs share the same genotype. When comparing an ... While these SNPs probably do not cause the disease, they provide valuable insight into the makeup of the genomes in question. ... Modern day SNP arrays are used to survey the genome and identify large regions of homozygosity. Homozygous blocks in the ... Since affected individuals will probably be homozygous in the regions, looking at SNPs in a region is an adequate marker of ...
An example of its use is in TaqMan or invader assay, SNP genotyping methods. For instance, a hairpin loop with a fluorophore ... end dependent on the SNP (insensitive to polymorphisms upstream of the SNP in question). In the next run a primer, ... An unlabeled SNP specific PCR primer (one of many) with a specific 5' tail binds to the sequence to be probed, and the taq ...
For QTL mapping in maize: use KASP to genotype parents and F1s with 1250 SNPs Identify the polymorphic SNPs Genotype the entire ... SNPs work as molecular markers that help locate genes associated with disease and are used for genotype sequencing. Genotyping ... QC genotype protocol uses 50-100 SNPs to determine non homogeneity within a sample and establish genetic identity. QC can be ... However, the multiplex methods are currently the most high-throughput platforms for SNP genotyping. This technology has many ...
In this method, in a backcross, one may calculate a t-statistic to compare the averages of the two marker genotype groups. For ... INTERSNP - a software for genome-wide interaction analysis (GWIA) of case-control SNP data and analysis of quantitative traits ... The more genes involved in the cross, the more the distribution of the genotypes will resemble a normal, or Gaussian ... This should result in a normal curve distribution of genotypes. When it does not, the idea of polygenetic inheritance cannot be ...
... software tools for haplotype inference and optimal SNP selection for genotyping, platform approaches for SNP genotyping, and ... Finding SNPs(9MB) (Mark Rieder, Ph.D.). Brief Review of SNP Discovery Methods. SNP Databases. Candidate Gene (NIEHS-oriented) ... Finding SNPs(8MB) (Mark Rieder, Ph.D.). Database Extraction. SNP Summary Characteristics. SNP Analysis ... SNP Genotyping(6MB) (Debbie Nickerson, Ph.D.). Technology Platforms. Candidate Gene. Whole Genome Data. Quality Control ...
About TaqMan-based SNP Genotyping. Taq DNA polymerases 5-nuclease activity is used in the Taqman assay for SNP genotyping. ... ABIs TaqMan SNP Overview (PDF). TaqMan SNP Genotyping Assay (PDF). To schedule an appointment or to discuss experimental ... The TaqMan service begins with a review of the list of SNPs to be genotyped as not all SNPs can be typed using the TaqMan ... About SNP Genotyping. The Molecular Genomics Core (MGC) offers Taqman-bound allele discrimination analysis as a service. ...
Applications of whole-genome high-density SNP genotyping.. Craig DW1, Stephan DA. ... Genotyping hundreds of thousands of single nucleotide polymorphisms in a single set of assays now also allows for whole-genome ... The technology to simultaneously genotype hundreds of thousands of single nucleotide polymorphisms in a single assay has only ... Several strategies that can take advantage of extremely high-density, genome-wide single nucleotide polymorphism genotyping to ...
The use of SNPs is being extended in the HapMap project, which aims to provide the minimal set of SNPs needed to genotype the ... For simple genotyping of an SNP, it is easier to just make the amplicon small to minimize the chances you mistake one SNP for ... The Affymetrix Human SNP 5.0 GeneChip performs a genome-wide assay that can genotype over 500,000 human SNPs (Affymetrix 2007 ... Compared to other SNP genotyping methods, sequencing is in particular, suited to identifying multiple SNPs in a small region, ...
... gives an overview of probability basics for models of SNPs and genotypes, as part of a population genomics workshop at Cornell ... A SNP does not exist in space. Its not in a vacuum. It actually lives next to other SNPs. And those SNPs are linked to one ... 63 of them had this genotype. 34, this gene type. And 3, this genotype. So were not working with genotype uncertainty. OK. We ... Probability basics for models of SNPs and genotypes. Posted on September 23, 2013 By Cornell Center for Comparative and ...
In many SNP genotyping assays, the genotype assignment is based on scatter plots of signals corresponding to the two SNP ... for assessing the quality of SNP genotyping clusters is convenient for evaluating the quality of SNP genotype assignment, and ... can potentially be used as a quality measure for SNP genotyping results and for objective comparison of the performance of SNP ... Silhouette scores for assessment of SNP genotype clusters. Lovmar, Lovisa Uppsala University, Disciplinary Domain of Medicine ...
直接杂交技术像单核苷酸多态性阵列使用短寡核苷酸探针直接识别个别 snp 位点。数以十万计的 snp 位点可以在单个芯片上进行测试。探针化学固定芯片矩阵,通常玻璃幻灯片。检测样品中的单核苷酸多态性,孤立的基因
Out of the 17 SNPs examined, 15 SNPs in 8 genes in the children (11 SNPs in 9 genes after adjusting for the mothers genotype) ... and 8 SNPs in 6 genes in the mothers (11 SNPs in 8 genes after adjusting for the childs genotype) showed evidence of ... Tanning dependenceMaternal SNPs/single nucleotide polymorphisms Genotypes ALSPAC Abbreviations. ALSPAC. Avon longitudinal study ... The 17 SNPs were located in 13 different genes (see Table 2 and Additional file 2: Table S1). The SNPs used were well imputed ( ...
Because SNPs (single nucleotide polymorphisms), are the most common type of genetic variation between human beings. These ... Bovine Mapping 25K SNP Kit. Rat Mapping 5K SNP Kit. Applied Biosystems (Life Technologies). Overview. SNP Genotyping Systems ... SNPlex Genotyping System TaqMan Genotyping Assays. Applied Biosystems TaqMan Genotyping Assay Strategy. TaqMan Sample-to-SNP ... Now, in His report SNP Genotyping and Analysis Markets he looks at SNP analysis instruments, reagents, and related software and ...
Bioinformatics community open to all people. Strong emphasis on open access to biological information as well as Free and Open Source software.
High-throughput microarray genotyping of 11 555 different SNPs was performed using GeneChip Human Mapping 10K Arrays version ... We and our customers use amplified DNA for SNP genotyping on a regular basis, using Illumina, TaqMan®, Sequenom, PCR, gel-based ... They observed an excellent concordance (99.95%) between single-nucleotide polymorphisms (SNPs) called both in the nonamplified ...
... relies crucially on the accurate calling of SNPs and genotypes. Recently developed statistical methods both improve and ... Genotype and SNP Calling From Next-Generation Sequencing Data Nat Rev Genet. 2011 Jun;12(6):443-51. doi: 10.1038/nrg2986. ... relies crucially on the accurate calling of SNPs and genotypes. Recently developed statistical methods both improve and ... quantify the considerable uncertainty associated with genotype calling, and will especially benefit the growing number of ...
Clinical adoption of human genome sequencing requires methods that output genotypes with known accuracy at millions or billions ... Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls Share. Facebook Google Plus ... Here we present methods to make high-confidence, single-nucleotide polymorphism (SNP), indel and homozygous reference genotype ... www.nist.gov/publications/integrating-human-sequence-data-sets-provides-resource-benchmark-snp-and-indel-genotype ...
Application of homozygosity haplotype analysis to genetic mapping with high-density SNP genotype data.. Jiang H1, Orr A, ... High-density SNP genotype data presents a computational challenge for conventional genetic analyses. A novel non-parametric ... a) RCHH mapping using the 300K SNP genotypes of eight affected individuals 312, 317, 318, 326, 329, 335, 349, and 360. The RCHH ... Application of Homozygosity Haplotype Analysis to Genetic Mapping with High-Density SNP Genotype Data ...
Announces Advancement of Co-Primers™ Technology in Multiplex SNP Genotyping - read this article along with other careers ... Announces Advancement of Co-Primers™ Technology in Multiplex SNP Genotyping. Published: Jun 05, 2018 ... SNP detection refers to finding small-scale but clinically-significant mutations in a given gene using real-time polymerase ... Medical applications of SNP detection include identifying the presence of cancer cells or cell-free genetic material in a ...
... PanSNPdb, is a Pan-Asian SNP genotyping database derived from the survey, ... Furthermore, PanSNPdb provides an interactive comparison with other SNP and CNV databases, including HapMap3, JSNP, dbSNP and ... conducted by the HUGO Pan-Asian SNP consortium, of human genetic diversity among Asians by sampling 1,719 unrelated individuals ...
SNPs) in genomic DNA using PCR-based SNP genotyping technologies such as fluorescent primers or probes. ... Platinum qPCR SuperMix for SNP Genotyping is a ready-to-use reaction mix for the amplification and identification of single- ... SNPs) in genomic DNA using PCR-based SNP genotyping technologies such as fluorescent primers or probes. The SuperMix has been ... qPCR SuperMix for SNP Genotyping can be used with real-time qPCR instruments that can detect three colors (one for each SNP, ...
All SNP Genotyping SNP Genotyping Assays. Search all TaqMan™ SNP Genotyping Assays, including Drug Metabolism Genotyping Assays ... Protocol: TaqMan® SNP Genotyping Assays. PDF, 2342.7 KB. Protocol. Protocol: TaqMan® Drug Metabolism Genotyping Assays. PDF, ... SNP Genotyping Copy Number siRNA CRISPR MicroRNA Mutation Detection Array Plates Array Plates Antibodies Primer Designer ... SNP ID: e.g. "rs12096805". Entrez Gene ID: e.g. "6262. Gene Symbol: e.g. "JAK2". Gene Name: e.g. "Janus kinase 2". RefSeq ...
SNP) genotyping of fresh and degraded samples. The assay was validated with fresh blood samples from four different populations ... Forensic SNP Genotyping with SNaPshot: Development of a Novel In-house SBE Multiplex SNP Assay J Forensic Sci. 2018 Nov;63(6): ... The findings show that the new multiplex system can be utilized for SNP genotyping of degraded and forensic relevant skeletal ... Full SNP profiles could be obtained from 14 specimens, while ten remains showed partial SNP profiles. Minor allele frequencies ...
Home » Tools & Technology » PCR » Researchers Pair Acoustic Detection with PCR for Label-Free SNP Genotyping, Gene Expression ... Researchers Pair Acoustic Detection with PCR for Label-Free SNP Genotyping, Gene Expression Assays. Jun 27, 2013 ...
SNP genotyping Validated TaqMan SNP Genotyping A...,Oragene,is,compatible,with,TaqMan,SNP,genotyping,biological,advanced ... SNP genotyping Validated TaqMan SNP Genotyping Assays were obtained from Applied Biosystems. The assays are described in Table ... DNA collected with Oragene works well with TaqMan SNP Genotyping Assays. SNPs in the thymidylate synthetase and apolipoprotein ... Ottawa... Introduction Single-nucleotide po... Materials and Methods DNA colle... SNP genotyping Validated TaqMan SNP ...
Whole Genome (GWAS) - Illumina BeadChips Targeted, high throughput - Agena iPLEX Targeted, few mutations or SNPs - TaqMan and ... The GSR provides SNP genotyping and mutation detection services on several different platforms depending on the size and scope ... Targeted 10-300 SNP and mutations:. Agena - Targeted SNP genotyping using Agena iPLEX is best suited for genotyping 50s - 1000s ... Our targeted Agena genotyping service includes primer and assay design through to production of SNP genotypes. Each project ...
IFCs for Genotyping using SNP Type assays. IFCs and Control Line Fluid syringes sold separately. ... SNP Type™ 96.96 Genotyping Reagent Kit-10 IFCs. Sufficient reagents for ten 96.96 Dynamic Array™ IFCs for Genotyping using SNP ... SNP Type™ 96.96 Genotyping Reagent Kit with Control Line Fluid-10 IFCs ...
... genotyped for over 777,000 SNPs. We found ROH segments larger than 10 Mb in over 70% of the samples, representing signatures ... of the SNPs being included within a ROH in at least one individual, only 19.37% of the markers were encompassed by common ROH, ... of the SNPs being included within a ROH in at least one individual, only 19.37% of the markers were encompassed by common ROH, ... genotyped for over 777,000 SNPs. We found ROH segments larger than 10 Mb in over 70% of the samples, representing signatures ...
... genotyping market is expected to grow to more than $11.5 billion by 2019, with a five-year compound annual growth rate (CAGR) ... SNP) GENOTYPING: TECHNOLOGIES AND GLOBAL MARKETS, the global single nucleotide polymorphism (SNP) genotyping market is expected ... SNPs, the most widely used form of genotyping around the world, help in understanding the correlations between genotype and ... SINGLE NUCLEOTIDE POLYMORPHISM (SNP) GENOTYPING: TECHNOLOGIES AND GLOBAL MARKETS provides an overview of the global SNP ...
  • To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis that involved genotyping 517 SNPs using a custom Illumina iSelect array (iCOGS) followed by imputation of genotypes for 3,134 SNPs in more than 89,000 participants of European ancestry from the Breast Cancer Association Consortium (BCAC). (uni-muenchen.de)
  • Genotype data were generated using the MNEc2M array from a cohort of 332 horses from 20 breeds and a lower-density array, consisting of ~670 thousand SNPs (MNEc670k), was designed for genotype imputation. (elsevier.com)
  • Several strategies that can take advantage of extremely high-density, genome-wide single nucleotide polymorphism genotyping to hone in on pathogenic genetic variants will be discussed. (nih.gov)
  • In familial linkage studies, high-density single nucleotide polymorphism genotyping has already been proven to speed up mutation identification of Mendelian traits several fold. (nih.gov)
  • The technology of high-density single nucleotide polymorphism genotyping has emerged rapidly, leaving data analysis and bioinformatic challenges only partially met. (nih.gov)
  • In this review, the immediate applications and implications of the rapidly changing high-density, whole-genome single nucleotide polymorphism genotyping field on translational research will be described. (nih.gov)
  • Results: We created a program (ClusterA) for calculating "Silhouette scores", and applied it to assess the quality of SNP genotype clusters obtained by single nucleotide primer extension ("minisequencing") in the Tag-microarray format. (diva-portal.org)
  • This study introduces a newly developed in-house SNaPshot single-base extension (SBE) multiplex assay for forensic single nucleotide polymorphism (SNP) genotyping of fresh and degraded samples. (nih.gov)
  • Single nucleotide polymorphism (SNP) represents the most common type of mutation in genomes of all life forms. (cnbc.com)
  • When any one single nucleotide of A , T , C and G in the genome sequence is replace by one of any other 3 nucleotide, e.g., from AAAT C CGG to AAAT T CGG, we call this single base variation (C ⇒ T) as a single nucleotide polymorphism (SNP). (springer.com)
  • With the rapid growth of single nucleotide polymorphism (SNP) resources for many important crop plants, the availability of routine, low-tech marker assays for genotyping SNPs is of increased importance. (springer.com)
  • In this report, the United States Single Nucleotide Polymorphism (SNP) Genotyping market is valued at USD XX million in 2016 and is expected to reach USD XX million by the end of 2022, growing at a CAGR of XX% between 2016 and 2022. (rnrmarketresearch.com)
  • The new offering provides ultra-high-density single nucleotide polymorphism (SNP) genotyping at a low cost per datapoint, making this valuable technology more accessible for a wide range of agricultural applications. (apnews.com)
  • Low- and high-throughput technologies based on SNPs (Single nucleotide polymorphism) are a booming sector in the field of plant genotyping. (biomedcentral.com)
  • The global Single Nucleotide Polymorphism (SNP) Genotyping market is comprehensively and Insightful information in the report, taking into consideration various factors such as competition, regional growth, segmentation, and Single Nucleotide Polymorphism (SNP) Genotyping Market size by value and volume. (sasknewsnow.com)
  • This is an excellent research study specially compiled to provide the latest insights into critical aspects of the Single Nucleotide Polymorphism (SNP) Genotyping market. (sasknewsnow.com)
  • Each section of the report reveals critical information about the global Single Nucleotide Polymorphism (SNP) Genotyping market that could be used to ensure strong growth in the coming years. (sasknewsnow.com)
  • Our unique blend of primary and secondary research techniques helped us to recognize hidden business opportunities available in the global Single Nucleotide Polymorphism (SNP) Genotyping market, besides collecting significant insights of market participants and obtaining precise market data. (sasknewsnow.com)
  • To study and forecast the market size of the Single Nucleotide Polymorphism (SNP) Genotyping in the global market. (sasknewsnow.com)
  • context: genotyping of single nucleotide polymorphism (snp c/t-13910) located upstream of the lactase gene is used to determine adult-type hypolactasia/lactase persistence in north-european caucasian subjects. (oalib.com)
  • Single Nucleotide Polymorphism (SNP) are most common types of genetic variation between members of species. (mygenomics.com)
  • SNP: Single Nucleotide Polymorphism, is a variation at a single position in a DNA sequence among individuals. (labcollector.com)
  • Kashi Clinical Laboratories supports your SNP (single-nucleotide polymorphism) experiments using QuantStudio Real-Time PCR instrumentation. (kashilab.com)
  • A single-nucleotide polymorphism (SNP) is a variation in a single nucleotide at a specific location in the genome and is the most frequently occurring genetic variation in living organisms. (base-asia.com)
  • Such a shared chromosomal interval or haplotype, surrounding the actual pathogenic mutation, is typically detected and defined by multipoint linkage and phased haplotype analysis using microsatellite or SNP genotype data. (nih.gov)
  • I know SNP information is located in somatic mutation, while I have downloaded somatic mutation MAF files, there are 5 subset files. (biostars.org)
  • It is a form of genotyping, which is the measurement of more general genetic variation. (wikipedia.org)
  • SNPs are one of the most common types of genetic variation. (wikipedia.org)
  • Because SNPs are the most common type of genetic variation between human beings, these specific single base pair mutations can be ideal for the task of hunting for correlations between genotype and behavior or quality exhibited by a living organism. (kaloramainformation.com)
  • The Omni5Exome array with nearly 5 million SNPs delivers the most comprehensive coverage of the genome, providing functional exonic content for whole-genome genotyping and copy number variation (CNV) analysis, along with optimized tag SNPs targeting genetic variation down to 1% minor allele frequency (MAF). (utah.edu)
  • This new platform presents faster time turn around and a better per sample cost effective solution for interrogating genetic variation in rice varieties, offering sufficient SNP density for typical fingerprinting and classification of rice germplasm, QTL analysis for small size biparental populations, marker assisted backcrossing applications for selecting genetic backgrounds, and assessment of allele frequencies for 13 key traits in different rice accessions sets. (irri.org)
  • More than two million SNP genotypes have so far been added to the global SNP genotyping and analysis market's global repository by the Project and this is providing its related companies with a significant boost in development speed. (tmrblog.com)
  • GT polymorphism was significantly associated with body weight (BWT) and body width (BWH), with the AB (TG/GT) genotype showing positive effects on growth traits. (mdpi.com)
  • The system uses a fast pre-processing pipeline able to work with any population based SNP database and can bring together disparate information into more informative summaries of variability, locus data and statistical metrics. (biomedcentral.com)
  • Experimental conditions including information of primer and probe sequences, reagent names, device models, protocols, clustering graphs and genotyping tables of each SNP locus in individual sample. (cd-genomics.com)
  • An Affymetrix Axiom® myDesign Custom Array was created and tested on samples of animals of wild and farmed origin (n = 96) revealing a total of 132,033 polymorphic SNPs with high call rate, good cluster separation on the array and stable Mendelian inheritance in our sample. (stir.ac.uk)
  • A novel non-parametric method termed Homozygosity Haplotype (HH) was recently proposed for the genome-wide search of the autosomal segments shared among patients using high density SNP genotype data. (nih.gov)
  • A two-SNP haplotype in ALDH1A1 was associated with an increased risk of grade 3 and 4 hematological toxicity (odds ratio=1.44, 95% confidence interval=1.16-1.78), which remained significant after correction for multiple comparisons. (nature.com)
  • Uncertainty in phase assignment is addressed by considering all possible haplotype configurations consistent with each unphased genotype, weighted in the logistic regression likelihood by their probabilities, calculated according to the estimated relative haplotype frequencies. (ox.ac.uk)
  • Utah residents with ancestry from Northern and Western Europe (CEU), Yoruba in Ibadan, Nigeria in West Africa (YRI), and Han Chinese in Beijing together with Japanese in Tokyo (CHB+JPT), from which 100,736 SNPs were obtained and the top 82 SNPs could completely classify the three populations. (springer.com)
  • we obtain a better result, i.e., good classification of the 3 populations using on average 64 SNPs. (springer.com)
  • Our method is able to identify a very small number of important SNPs that can determine the populations of individuals. (springer.com)
  • The diverse nature of the major online SNP databases requires the researcher interested in population variability to query each in turn, to obtain allele frequencies, then to compile their own statistical indices for comparison of populations within and between databases. (biomedcentral.com)
  • Because the large-scale SNP data repositories are heterogeneous, and in response to our own need for a graphical browser for complex and extensive SNP data where this was lacking, we developed a system to summarize genotypes from multiple populations quickly and easily. (biomedcentral.com)
  • About 850 mainly Italian accessions were analyzed, representing more than 500 unique genotypes (including sativa and sylvestris genotypes, and also some no vinifera and no Vitis genotypes and clones of some of the most important varieties in Italy. (unimore.it)
  • The panel was optimized to identify SNPs evenly distributed across the genome, with high quality score and validation status, maximizing minor allele frequency values within indica accessions. (irri.org)
  • Clinically significant 'LogR neutral' genotyping abnormalities were detected in 0.5% of cases. (ovid.com)
  • It performs the queries rapidly and gives straightforward graphical summaries of SNP population variability through visual inspection of allele frequencies outlined in standard pie-chart format. (biomedcentral.com)
  • This is likely because of the betweenbreed SNP discovery method that was used, which typically identifies SNP with higher allele frequencies. (tamu.edu)