Lod Score: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."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.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.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Chromosomes, Human, Pair 2: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.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).Chromosomes, Human, Pair 1: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.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)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.Consanguinity: The magnitude of INBREEDING in humans.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.Chromosomes, Human, Pair 6: A specific pair GROUP C CHROMSOMES of the human chromosome classification.Chromosomes, Human, Pair 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 16: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 19: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Chromosomes, Human, Pair 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Penetrance: The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Nuclear Family: A family composed of spouses and their children.Chromosomes, Human, Pair 10: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 4: A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.Family Health: The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.Chromosomes, Human, Pair 5: One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).Chromosomes, Human, Pair 20: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Quantitative Trait, Heritable: A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Chromosomes, Human, Pair 3: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Chromosomes, Human, Pair 13: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 17: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.X Chromosome: The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.Chromosomes, Human, Pair 9: A specific pair of GROUP C CHROMSOMES of the human chromosome classification.Syndrome: A characteristic symptom complex.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.Chromosomes, Human, Pair 11: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.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.Chromosomes, Human, Pair 15: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Adult Children: Children who have reached maturity or the legal age of majority.Cataract: Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)Chromosomes, Human, Pair 8: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human: Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.Family: A social group consisting of parents or parent substitutes and children.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.Matched-Pair Analysis: A type of analysis in which subjects in a study group and a comparison group are made comparable with respect to extraneous factors by individually pairing study subjects with the comparison group subjects (e.g., age-matched controls).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.Siblings: Persons or animals having at least one parent in common. (American College Dictionary, 3d ed)Chromosomes, Human, Pair 18: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Chromosomes, Human, Pair 14: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.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.Homozygote: An individual in which both alleles at a given locus are identical.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.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.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.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.Retinitis Pigmentosa: Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.IcelandPakistanCrosses, 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.Jews: An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.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.Multifactorial 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.Abnormalities, MultipleFounder 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.Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosomes, Mammalian: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.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.beta-Crystallin B Chain: The basic subunit of beta-crystallins.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.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.Severity of Illness Index: Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.Hearing Loss, Sensorineural: Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.Hypotrichosis: Presence of less than the normal amount of hair. (Dorland, 27th ed)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.FinlandHeterozygote: An individual having different alleles at one or more loci regarding a specific character.DNA, Satellite: Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.Hand Deformities, Congenital: Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.Neoplastic Syndromes, Hereditary: The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)Charcot-Marie-Tooth Disease: A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)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.Software: Sequential operating programs and data which instruct the functioning of a digital computer.Heterozygote Detection: Identification of genetic carriers for a given trait.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.Chromosomes, Human, Pair 21: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Arabs: Members of a Semitic people inhabiting the Arabian peninsula or other countries of the Middle East and North Africa. The term may be used with reference to ancient, medieval, or modern ethnic or cultural groups. (From Random House Unabridged Dictionary, 2d ed)Eye Diseases, Hereditary: Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder.Chromosomes, Human, X: The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.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.
If one block of homozygosity is a result of a very non-diverse region of the genome, the LOD score will be very low). Tools for ... analysis and microsatellite analysis. Loss of heterozygosity (LOH) is a technique that can only be used to compare two samples ... This can be accomplished by plotting a cumulative LOD score alongside the overlaid blocks of homozygosity. By taking into ... LOH analysis is often used when identifying cancer-causing oncogenes in that one sample consists of (mutant) tumor DNA and the ...
The lod score method (Morton, 1955), which constitutes the basis of most of linkage studies, has been recognized as pivotal ... Unfortunately, linkage analysis in humans, animals and plants languished for more than a half century after Sturtevant's ... Although it is possible to simplify the analysis of complex pedigree data by fragmenting the pedigree into smaller component ... Linkage vs Association Linkage and association analysis are primary tool for gene discovery, localization and functional ...
The study confirmed the Xq28 linkage to homosexuality by two-point and multipoint (MERLIN) LOD score mapping. Significant ... A meta-analysis of all data available at that time (i.e., Hamer et al. (1993), Hu et al. (1995), Rice et al. (1999), and the ... In contrast, analyses by Hamer et al. (1993), Hu et al. (1995) and the 1998 study by Sanders et al. did find greater than 50% ... One was an X chromosome linkage analysis of 54 pairs of gay brothers carried out by the independent research group of Sanders ...
Therefore there three categories of family-based linkage analysis - strongly modeled (the traditional lod score model), weakly ... Linkage and association analysis are primary tools for gene discovery, localization and functional analysis. While conceptual ... Beavis W.D. (1998) "QTL analyses: power, precision, and accuracy". In: Paterson AH (ed) Molecular analysis of complex traits. ... It should be noted that what is relevant in linkage analysis is the inheritance (or coinheritance) of alleles at adjacent loci ...
... whereas negative LOD scores indicate that linkage is less likely. Computerised LOD score analysis is a simple way to analyse ... a LOD score for each estimate The estimate with the highest LOD score will be considered the best estimate The LOD score is ... a LOD score less than -2.0 is considered evidence to exclude linkage. Although it is very unlikely that a LOD score of 3 would ... The LOD score (logarithm (base 10) of odds), developed by Newton Morton, is a statistical test often used for linkage analysis ...
Lathrop GM, Lalouel JM (1984). "Easy calculations of lod scores and genetic risks on small computers". Am J Hum Genet. 36: 460- ... Kong A, Cox NJ (1997). "Allele-sharing models: LOD scores and accurate linkage tests". Am J Hum Genet. 61 (5): 1179-1188. doi: ... Sobel E, Lange K (1996). "Descent graphs in pedigree analysis: Applications to haplotyping, location scores, and marker-sharing ... Several R functions are provided that illustrate how data can be extracted from the data frames for common R analysis, such as ...
Early analysis relied on statistical interpretation through processes such as LOD (logarithm of odds) scores of pedigrees and ... Logarithm of odds (LOD) is a statistical technique used to estimate the probability of gene linkage between traits. LOD is ... This process is referred to sometimes as linkage analysis. By the 1990s ever advancing technology had made genetic analysis ... Human beings pose a greater challenge for QTL analysis because the genetic population cannot be as carefully controlled as that ...
In interval mapping, each locus is considered one at a time and the logarithm of the odds ratio (LOD score) is calculated for ... a software for genome-wide interaction analysis (GWIA) of case-control SNP data and analysis of quantitative traits Precision ... The method makes use of a genetic map of the typed markers, and, like analysis of variance, assumes the presence of a single ... Bink MCAM, Boer MP, ter Braak CJF, Jansen J, Voorrips RE, van de Weg WE: Bayesian analysis of complex traits in pedigreed plant ...
Linear tetrad Linkage Linkage analysis Linkage equilibrium Linkage group Linkage map Linking number Locus Lod score Lod score ... Balbiani ring Barr body Basal body Base Base analogue Base pair Base pairs Base sequence Batesian mimicry Bayesian analysis ... Nonsense codon Nonsense mutation Nonsense suppressor Noonan syndrome Norm of reaction Normal distribution Northern analysis ... Teratogen Teratogenic Teratogens Terminal redundancy Terminator sequence Tertiary structure Test cross Tetrad Tetrad analysis ...
In interval mapping, each locus is considered one at a time and the logarithm of the odds ratio (LOD score) is calculated for ... Analysis of variance[edit]. The simplest method for QTL mapping is analysis of variance (ANOVA, sometimes called "marker ... INTERSNP - a software for genome-wide interaction analysis (GWIA) of case-control SNP data and analysis of quantitative traits ... The method makes use of a genetic map of the typed markers, and, like analysis of variance, assumes the presence of a single ...
By analyzing DNA alleles can be identified as being associated with disease states, such as in calculation of LOD scores. ... Hence, protein analysis usually requires DNA methods, especially cloning. Some examples of genetic methods include conceptual ... Experimental analysis of proteins typically requires expression and purification of proteins. Expression is achieved by ... However, many experimental methods (e.g., mass spectrometry) require computational analysis of the raw data. ...
... whereas negative LOD scores indicate that linkage is less likely. Computerised LOD score analysis is a simple way to analyse ... The LOD score is calculated as follows: LOD. =. Z. =. log. 10. . probability of birth sequence with a given linkage value. ... Parametric linkage analysisEdit. The LOD score (logarithm (base 10) of odds), developed by Newton Morton,[8] is a statistical ... a LOD score less than −2.0 is considered evidence to exclude linkage. Although it is very unlikely that a LOD score of 3 would ...
... karyotype knockout leukemia List of human genetic disorders locus LOD score lymphocyte malformation Gene mapping marker ... ISBN 0-7167-3520-2. Hartl, D.L.; Jones, E.W. (2005). Genetics: Analysis of Genes and Genomes. Jones and Bartlett Publishers. ... 2000). "Genetics and the Organism: Introduction". An Introduction to Genetic Analysis (7th ed.). New York: W. H. Freeman. ...
The test statistic LOD score linearly increases as the increase in population size. The larger of the QTL effect, the greater ... Its function is: (1) implementation of mapping methods including single marker analysis, interval mapping, ICIM for additive ... the corresponding LOD score increases. When population size is greater than 200, the position estimation of ICIM for QTL ... "QTL analysis for rice grain length and fine mapping of an identified QTL with stable and major effects" (PDF). Theoretical ...
Traces of guidelines have been found beneath some mosaics, either scored into or painted onto the mortar bedding. The design ... Mosaics of Roman Britain Association for the Study and Preservation of Roman Mosaics Discovery of Roman mosaic in Lod, Israel ... Neri, Elisabetta; Verità, Marco (2013). "Glass and metal analyses of gold leaf tesserae from 1st to 9th century mosaics. A ... As-Suwayda, Syria Late Antique and medieval mosaics in Italy Lod Mosaic Archaeological Center Mosaics of Delos Roman ...
"Analysis". Grove Music Online. Oxford Music Online, Oxford University Press. Retrieved 31 July 2013. (subscription required) ... Jeppesen engaged in much primary research - locating early manuscript and print copies of old scores and preparing editions ... "Du gav mig o herre en lod af din jord" (C. R. Sundell) 1951 Dagen viger og gaar bort, cantata for alto soloist, mixed chorus, ... "most distinguished and influential example of stylistic analysis at this time". His published writings mostly regard music by ...
... and will win if the favorite's score minus the spread is greater than the underdog's score: The eventual score is Underdog 5, ... LoD Low of day (the lowest price the market traded at for the day). London Turn The time when markets subtly change direction ... The mathematical analysis of spreads and spread betting is a large and growing subject. For example, sports that have simple 1- ... If the final score is team A 24, team B 17, the total is 41 and bettors who took the under will win. If the final score is team ...
a b Interregional Migration: Dynamic Theory and Comparative Analysis, edited by Wolfgang Weidlich, Günter Haag (Springer 2012 ... Located in the neighbouring city of Lod, it handled over 20 million passengers in 2017. Ben Gurion is the main hub of El Al, ... "USATODAY.com - Six killed, scores wounded in suicide attack on Tel Aviv bus". USA Today. McLean, VA: Gannett. 19 September 2002 ... IDF soldiers cleaning the beaches at Tel Aviv, which have scored highly in environmental tests.[221] ...
"Final score: Dershowitz 137, BDS 101". The Jerusalem Post. 3 November 2015. Retrieved 3 November 2015.. ... Hitchcock, Jennifer Megan (29 June 2020). A Rhetorical Frame Analysis of Palestinian-Led Boycott, Divestment, Sanctions (BDS) ... Lod Airport massacre (1972). *Munich massacre (1972). *Wrath of God (1972-1979) ... an analysis of socialist attitudes to the Jews, P. Mendes, Palgrave Macmillan, 2014, page 89 ...
According to an analysis by Carbon Trust, SodaStream is 75 per cent less greenhouse gas-intensive than generic colas sold in ... SodaStream is headquartered in Lod, Israel and has 13 production plants. Until 2015 its principal manufacturing facility was ... Vinjamuri, David (27 November 2012). "SodaStream Scores Another PR Break: Bogusky's Ad Rejected In The UK". Forbes. Retrieved ...
An Analysis of the Strategies and Tactics of the Palestinians and Israelis. Ron, Jonathan. Tufts University ... In the resulting skirmish, scores of Jordanian security forces were killed and 125 homes razed. This raid was one of several ... Organization hijacked Sabena Flight 572 en route to Vienna and forced it to land at the Ben Gurion International Airport in Lod ... Zeev Maoz, Defending the Holy Land, A Critical Analysis of Israel's Security and Foreign Policy, University of Michigan Press, ...
One of these regions, on chromosome 6p, which contains the gene for peripherin, gave positive lod scores. Use of a ... Two- and multi-point analyses suggest that the most likely location for the disease gene is near D6S291, which is located ... One of these regions, on chromosome 6p, which contains the gene for peripherin, gave positive lod scores. Use of a ... One of these regions, on chromosome 6p, which contains the gene for peripherin, gave positive lod scores. Use of a ...
Mapping loci influencing blood pressure in the Framingham pedigrees using model-free LOD score analysis of a quantitative trait ... N2 - This paper presents a method of performing model-free LOD-score based linkage analysis on quantitative traits. It is ... AB - This paper presents a method of performing model-free LOD-score based linkage analysis on quantitative traits. It is ... Mapping loci influencing blood pressure in the Framingham pedigrees using model-free LOD score analysis of a quantitative trait ...
LOD score analyses and haplotyping. Our primary analytic approach in analysis of data from the GELCC assumed a model with 10% ... MCMC analysis was used to estimate LOD scores because the pedigrees were too large to permit exact multipoint computation of ... Results from each LOD score analysis were then summed across study and ethnicity to obtain the final results. ... Maximal HLOD scores from genome-wide linkage analyses are presented in Table 3. Results from linkage analyses are presented in ...
LOD score. Mode of inheritance in MRL alleles (QTL analysis). Sex. **. LOD = logarithm of odds; QTL = quantitative trait locus. ... The position of the locus was identical to that determined by QTL analysis (Figure 2), in which the highest LOD score was 3.9 ... These results were supported by QTL analysis, in which the highest LOD score on chromosome 8 was 4.5 at marker position D8Mit31 ... The other locus, on chromosome 5, was found around D5Mit23 (54.0 cM) with suggestive linkage in QTL analysis (LOD score 2.2 ...
Lod score synonyms, Lod score pronunciation, Lod score translation, English dictionary definition of Lod score. 1. The symbol ... 10] likelihoods generates a logarithm of odds (LOD) score that is correspondent to the classical LOD score of linkage analysis. ... Lod score - definition of Lod score by The Free Dictionary https://www.thefreedictionary.com/Lod+score ... redirected from Lod score). Also found in: Thesaurus, Medical, Financial, Encyclopedia.. Related to Lod score: linkage ...
Classical genetic linkage analysis is an effective method for eliminating a large fraction of the candidate causal variants ... Linkage analysis and LOD score concordance. Prior to performing linkage analysis on exome and array SNP genotypes, we selected ... Summary of differences at analysis positions where either the WES or the array LOD scores reach their genome-wide maximum. ... As these families are not very powerful for linkage analysis, multiple linkage peaks with relatively low LOD scores were ...
This paper presents a method of performing model-free LOD-score based linkage analysis on quantitative traits. It is ... straightforward to apply and may offer a useful complementary approach to previously available methods for the linkage analysis ... or regression analysis [5-7]. Although classical LOD score analysis of quantitative traits could be implemented using the ... This paper presents a method of performing model-free LOD-score based linkage analysis on quantitative traits. It is ...
lod score [ Time Frame: ongoing ]. A lod score of 3.0 (equivalent to 1000:1 odds in favor of linkage) will be taken as proof ... A lod score of 3.0 (equivalent to 1000:1 odds in favor of linkage) will be taken as proof that the Chiari I gene maps to the ... Genetic Analysis [ Time Frame: ongoing ]. Establish family pedigrees and undertake genetic linkage analysis that will identify ... Genetic Analysis of the Chiari I Malformation. The safety and scientific validity of this study is the responsibility of the ...
... and computed LOD scores. The results of this analysis were that the largest LOD score was always at our previously identified ... Figure Figure44 shows the LOD scores after the addition of these markers. High LOD scores in model free variance-components ... The effect of this perturbation is to move the maximal LOD score to another location on the genome, but this LOD score is only ... When there are 3 clusters the LOD score at this locus is 3.2017 and when there are 5 clusters the LOD score is 2.6262. ...
Results: The region with the highest LOD score was located at chromosome 2p23-p24 and included the ALK locus under models of ... Genome-wide Linkage Analysis to Identify Genetic Modifiers of ALK Mutation Penetrance in Familial Neuroblastoma Hum Hered. 2011 ... Following a genome-wide linkage analysis and sequencing of candidate genes in the critical region, we identified ALK as the ...
A) LOD scores plotted against marker positions. Red line: 5% genome-wide significance threshold obtained after 10,000 ... Population-genetic analyses identified two highly divergent haplotypes at the glc-1 locus that have been maintained at ... C) Distribution of trait values of RIAILs grouped by genotypes at the marker corresponding to the maximum LOD score on ... B) The QTL identified on Chromosome V, with blue dashed lines showing the 1.5 LOD-drop interval. ( ...
B) LOD score plot of chromosome 12. Only one interval, larger than 1 cM, in the entire genome attained the maximum LOD score of ... Additional methods for Illumina data analysis, copy number analysis, Sanger sequence analysis of PTPN11 (Table S6), DNA ... Four X-linked intervals ,1 cM attained LOD scores ,−2, but the largest was 3.4 cM and the highest LOD score was 0.3; we ... that attained the maximum LOD score of 2.7 (Figure 2B). No other autosomal interval ,1 cM yielded a peak LOD score ,−1.9. ...
Expected LOD score for 1000 nuclear families with 4 offspring, where σ2mg = 0.2, σ2pg = 0,…, 0.8, σ2e = 0.8 − σ2pg and σ2m = σ2 ... Average LOD score profile for balanced design simulations (scenario 2). σ2m = 67 (40% total variance), σ2pg = 40 (24%). Results ... Repeated measures substantially improve power and the proportional increase in LOD score depends mostly on measurement error ... the proportional increase in LOD score ranges from 38% for traits with heritability of approximately 20% to 63% for traits with ...
QTL analysis of NPQ regulator. (A) Frequency distribution of NPQ values of BILs. (B) Distribution of LOD scores and AE values ... The locus qNPQ1-1 showed a LOD score peak at approximately 9.0 to 11.5 Mb, and qNPQ1-2 showed a peak at approximately 37.0 to ... 3C shows magnification of LOD scores and additive effect (AE) values along chromosome 1. The two loci identified on chromosome ... C) Magnification of chromosome 1. Maximum LOD scores, explained variances (R2), AE values, and approximate positions are shown ...
Through linkage analysis, potential prostate cancer susceptibility loci have been mapped to 3 regions on chromosome 1. To ... Lod Score* * Male * Microsatellite Repeats / genetics* * Middle Aged * Models, Genetic * Pedigree * Prostatic Neoplasms / ... Linkage analyses at the chromosome 1 loci 1q24-25 (HPC1), 1q42.2-43 (PCAP), and 1p36 (CAPB) in families with hereditary ... Through linkage analysis, potential prostate cancer susceptibility loci have been mapped to 3 regions on chromosome 1. To ...
In both, the LOD score serves as the major criterion in interval mapping; the steps of evaluating the QTL effects and QTL ... Joint analysis of 11 traits scored in F2/F3 mapping population of wheat Triticum durum × T. dicoccoides using markers of ... Interval analysis of a multitrait complex that includes 11 morphological traits scored in F2/F3 mapping population of wheat ... a) LOD score distribution along chromosome 7A for the 5-trait complex (GWH, YLD, HD, HT, and SWP). (b) Interval distribution of ...
A large drop in the LOD score (delta LOD) between models 1 and 2 score provides evidence to support a causal relationship (QTL ... Gene expression analysis. We previously identified eQTL from whole lung RNA using data from a subset of the same mice described ... x- and y-axes represent the change in the LOD score (delta LOD) at the peak locus on Chr 7 when expression of genes with local ... to fit a regression model and to report LOD scores. Significance thresholds were determined by permutation. We used the 1.5 LOD ...
LOD score exclusion analyses for candidate genes using random population samples, Ann Hum Genet, 65, 313-329, 2001 ... LOD score exclusion analyses of candidate genes with random population samples., Ann Hum Genet, 65, 313-329, 2001 ... LOD score exclusion analyses for candidate genes using random population samples., Ann Hum Genet, 65, 313-329, 2001 ... Comprehensive analysis of the association of EGFR, CALM3 and SMARCD1 gene polymorphisms with BMD in Caucasian women. PLoS One ...
A maximum heterogeneous lod score of 2.78 was reached at locus D6S276 (alpha = 0.60). Allelic association studies within the ... Analysis of three suggested psoriasis susceptibility loci in a large Swedish set of families: confirmation of linkage to ... In this study we investigated three reported gene locations by nonparametric and parametric linkage analysis in a large family ...
Lathrop GM, Lalouel JM (1984). "Easy calculations of lod scores and genetic risks on small computers". Am J Hum Genet. 36: 460- ... Kong A, Cox NJ (1997). "Allele-sharing models: LOD scores and accurate linkage tests". Am J Hum Genet. 61 (5): 1179-1188. doi: ... Sobel E, Lange K (1996). "Descent graphs in pedigree analysis: Applications to haplotyping, location scores, and marker-sharing ... Several R functions are provided that illustrate how data can be extracted from the data frames for common R analysis, such as ...
The value generally accepted as conclusive is a LOD score of 3. The LOD score for Lam4-917 is 3.96 at a recombination fraction ... Analysis of the hybridization pattern of the fetus at risk shows that alleles ACEG are inherited from the parents indicating ... A maximal LOD score of 5.13 (odds ratio: 132,000:1) is obtained at OM of 0.10 and OF of 0.04. ... The maximum likelihood estimate is obtained for 0 at 0.14 with a lod (z) score of 3.96 (odds ratio: 9,100:1), if recombination ...
Statistical analysis. LOD score analysis was performed using MLINK of the LINKAGE 5.1 computer program package.32 Multipoint ... Multipoint linkage analysis produced a maximum LOD score of 4.4 (results not shown). The haplotypes for 10 different markers in ... A standard LOD score of 3 or higher was used for significance. The Marshfield genetic map was used as the reference map for ... A maximum two-point LOD score of 3.48 was obtained for marker D18S1138 at a recombination fraction (θ) = 0 with recombination ...
Linkage analysis gave a lod score ofZ1 = 4.5 (P , 10−5) at a recombination fraction of 0.12 (19,20). After linkage had been ... An additional lod score for linkage disequilibrium ofZ2 = 7.1 (P , 10-7) was obtained (22). The joint lod score is therefore Z1 ... lod score 6.3) (data not shown). It is not that surprising, however, that the linkage lod score is reduced, because much ... Summary of lod scores obtained in linkage and linkage disequilibrium analyses when testing whether the Trp allele is itself a ...
QTL Analysis and Quantitative Genetics Part 2: Statistical Methods for QTL Analysis The qtl package in R allows you to ... implement QTL analysis using the methods Ive previously discussed. The code below is adapted from Broman... ... get the maximum LOD score on each chromosome # can also specify a threshold for LOD summary(out.em) summary(out.em, threshold=3 ... LOD scores are calculated. fake.bc <- calc.genoprob(fake.bc, step=1, error.prob=0.01) # function scanone performs single-QTL ...
GeneHunter 2.1 25 was used to perform nonparametric linkage analyses and calculate multipoint LOD scores. The data for all ... Statistical significance for the multipoint heterogeneity LOD scores and power were estimated from analysis of simulated marker ... in which maximum multipoint LOD scores were negative and haplotype analysis was inconsistent with linkage. Coupled with the ... Effect of heterogeneity and assumed mode of inheritance on LOD scores. Am J Med Genet. 1992;42:271-275. [CrossRef] [PubMed] ...
ChromosomeDisease geneMarkerMicrosatellite markersPedigreesPhenotypeGeneChromosomes2001Segregation analysesHaplotypeHeritabilityHeterogeneityGenome-wide linkage analysisGenotypeGeneticsNonparametric linkagePedigreeSignificantMutations1997Model-based linkage analysisMutationIntervalPreceded by genetic linkageMultipoint linkage analysisTraitsPhenotypesRegression analysisAllelesAllele frequencies1000Quantitative traitEvidenceParametric linkage analysisGenehunterGenotypesResultsDisease
- One of these regions, on chromosome 6p, which contains the gene for peripherin, gave positive lod scores. (elsevier.com)
- Two- and multi-point analyses suggest that the most likely location for the disease gene is near D6S291, which is located approximately 20 centimorgans telomeric from peripherin. (elsevier.com)
- A) LOD scores plotted against marker positions. (nih.gov)
- C) Distribution of trait values of RIAILs grouped by genotypes at the marker corresponding to the maximum LOD score on chromosome V. (D) Genotypes of RIAILs with breakpoints within the QTL interval. (nih.gov)
- Repeated measures substantially improve power and the proportional increase in LOD score depends mostly on measurement error and total heritability but not much on marker map, the number of alleles per marker or family structure. (nih.gov)
- THE detection power and mapping resolution of marker analysis of quantitative traits are the major factors affecting practical applications of quantitative trait loci (QTL) mapping. (genetics.org)
- The maximum 2-point lod score observed for all 4 families combined was 10.5 and was obtained with the marker D2S378. (blindness.org)
- Multipoint analysis yielded a maximum lod score of 12 centered on this same marker. (blindness.org)
- Genetic linkage analysis established linkage to chromosome 5, region p13.1-p15.33 with a maximum LOD score of 3.61 at a recombination fraction of 0.00 for marker D5S630 . (arvojournals.org)
- This makes them ideal candidates for construction of high-density genetic maps, which can then be used for marker-based crop improvement and genetic analyses. (g3journal.org)
- Incorrect marker order and map distances can have a profound effect on linkage analyses. (clinicaltrials.gov)
- A Zlr score of 3.41 was observed for chromosome 16 near marker D16S415. (rti.org)
- Analysis of the 140 Caucasian families produced a maximal NPL Z-score of 1.20, with a corresponding one-sided P of 0.12 at marker DXS1113 . (aacrjournals.org)
- A maximum two-point LOD score of 2.91 (theta = 0.0) was found for marker D13S153 and a maximum three-point LOD score of 3.0 was obtained between markers D13S291 and D13S153 under a recessive model with 90% maximum age-specific penetrance and including bipolar I and unipolar individuals as affected. (unboundmedicine.com)
- The overall LOD score in these 12 families was 3.22 at a recombination fraction (theta) of .06, with marker D1S507. (fredhutch.org)
- After exclusion of 3 of the 12 families that had better evidence of linkage to previously described PC-susceptibility loci, linkage to the 1p36 region was suggested by a two-point LOD score of 4.74 at straight theta = .0, with marker D1S407. (fredhutch.org)
- Two SNPs mapped near Fr1 and generated significant LOD scores in single marker regression analyses for Fr1/fr1 parent 17 as well as four other parents. (mdpi.com)
- We analyzed additional markers in the 6q25 region and found a maximum LOD score of 6.6 with marker D6S253, as well as a 6-cM haplotype (markers D6S253-D6S264) that segregated, after 12 generations, with the majority of the affected individuals. (diva-portal.org)
- Genomic DNA samples from F 2 intercross mice were examined by simple sequence-length polymorphism analysis, and the polymorphic microsatellite markers highly associated with vasculitis in each tissue were determined as vasculitis susceptibility loci. (wiley.com)
- Twenty-one FCMD families, 13 of them with consanguineous marriages, were analysed by genetic linkage analyses with polymorphic microsatellite markers to map the FCMD gene. (sigmaaldrich.com)
- Haplotype analysis with microsatellite markers suggested segregation of the phenotype with HOXD13 gene with incomplete penetrance. (nih.gov)
- Genotypic analyses were performed with polymorphic microsatellite markers. (ahajournals.org)
- Objectives: The goal of this study is to establish family pedigrees and undertake genetic linkage analysis that will identify gene loci associated with the Chiari I malformation and underdevelopment of the bone forming the posterior cranial fossa. (clinicaltrials.gov)
- Almasy L and Blangero J (1998) Multipoint quantitative‐trait linkage analysis in general pedigrees. (els.net)
- Further analysis of a subset of 23 multigenerational pedigrees containing ≥5 family members affected with lung cancer yielded a multipoint heterogeneity LOD score of 4.26 at the same position. (aacrjournals.org)
- 4 7 8 9 In the present study, we conducted linkage analyses on pedigrees of familial moyamoya disease to test the hypothesis that moyamoya disease is linked to a particular chromosomal region. (ahajournals.org)
- If there were no association between genotype and phenotype, there'd still be a 5% chance of a LOD score that big somewhere in the genome. (wisc.edu)
- Quantitative trait analysis of B6C3 F2 TTA mice identified a region on Chromosome 14 that contains a major modifier of the neurodegenerative phenotype. (jneurosci.org)
- Patients exhibiting the adRP phenotype were screened for mutations in the four exons of the RP1 gene by heteroduplex analysis and direct sequencing. (ugent.be)
- Sellers and colleagues ( 6 ) performed segregation analyses on the families studied by Ooi and colleagues ( 2 ) and found results that were compatible with Mendelian codominant inheritance of a rare major autosomal gene that acts in conjunction with cigarette smoking to produce earlier age of onset of the cancer ( 6 ). (aacrjournals.org)
- Following a genome-wide linkage analysis and sequencing of candidate genes in the critical region, we identified ALK as the major familial NB gene. (nih.gov)
- To identify a gene for MC, we performed linkage analysis with high-density SNP arrays in a single family, used a targeted array to capture exons and promoter sequences from the linked interval in 16 participants from 11 MC families, and sequenced the captured DNA using high-throughput parallel sequencing technologies. (plos.org)
- Copy number analysis of sequencing reads from a second targeted capture that included the entire PTPN11 gene identified an additional family with a 15 kb deletion spanning exon 7 of PTPN11 . (plos.org)
- In this study we investigated three reported gene locations by nonparametric and parametric linkage analysis in a large family set consisting of 104 families (153 sib pairs) from Sweden. (nih.gov)
- Homozygosity mapping and parametric linkage analysis were employed for the localisation of the gene responsible for Majeed syndrome. (bmj.com)
- Two-point linkage analyses were performed using the same disease gene segregation model as was used in the original publications, followed by nonparametric and multipoint analyses using Genehunter (http://linkage.rockefeller.edu/soft/gh/ provided in the public domain by Rockefeller University, New York, NY), with additional maximization over the parameter α, the proportion of linked families. (arvojournals.org)
- During exclusion analyses both families localized to chromosome 4p, harboring PDE6β , a gene previously associated with autosomal recessive RP. (molvis.org)
- Thus, methods for detecting gene‐gene interaction in linkage analysis are needed. (currentprotocols.com)
- Merlin‐rapid analysis of dense genetic maps using sparse gene flow trees. (currentprotocols.com)
- Linkage analysis to selected sarcomeric contractile protein genes identified cardiac troponin I (TNNI3) as the likely disease gene. (jci.org)
- 1995/03/Darrell Root ( rootd at ohsu.edu ) originally started the bionet.molbio.gene-linkage FAQ in May of 1994 in an attempt to share information and experiences that may be of use to other people involved in linkage analysis. (bio.net)
- With the advent of modern laboratory techniques such as High-throughput sequencing and software capable of genome-wide analysis, sequence acquisition has become increasingly less expensive and time-consuming, thus providing significant benefits to science in the form of more efficient disease gene identification techniques. (wikipedia.org)
- Genes involved in the intracellular signaling together with candidate genes were included for gene expression analysis. (diva-portal.org)
- We performed genetic linkage analysis, which identified a region on chromosome 2 containing the HOXD13 gene. (nih.gov)
- Direct sequencing analysis of HOXD13 gene revealed a nonsense mutation, designated as Q248X. (nih.gov)
- Esocids (members of the pike family) are regarded as having the closest extant preduplicated (diploid) genomes to salmonids, based on molecular phylogenetic studies, karyotype data, and comparative analyses of expressed gene sequences. (thefishsite.com)
- Methods -To determine whether a gene related to moyamoya disease is located on chromosome 17, we conducted microsatellite linkage analyses on 24 families containing 56 patients with moyamoya disease. (ahajournals.org)
- Multipoint linkage analysis also indicated that the disease gene is contained within the 9-cM region of D17S785 to D17S836, with a maximum LOD score of 4.58. (ahajournals.org)
- How can one deduce information about genes, alleles, and gene functions from analysis of genetic crosses and patterns of inheritance? (genetics-gsa.org)
- Also, multipoint linkage analysis places the HOS gene within the genetic interval between D12S84 and D12S79 (multipoint lod-score in log base 10 = 8.10). (unboundmedicine.com)
- summary' and 'max' functions allow you to identify the locations on the chromosomes where the LOD score is maximized and infer the potential location of a QTL. (r-bloggers.com)
- Lod score curves of a multiple interval mapping analysis are shown on a linkage map of chromosomes 3 and 2 (a, b). (els.net)
- 0 (Van Ooijen and Voorrips, 2001) based on LOD scores (minimum LOD score of 3. (thefreedictionary.com)
- Clerget-Darpoux F (2001) Extension of the lod score: the mod score. (springer.com)
- 2001) An analysis of polygenes affecting wing shape on chromosome 2 in Drosophila melanogaster. (els.net)
- Segregation analyses define the range of genetic hypotheses that can account for the observed transmission patterns. (acnp.org)
- Initial evidence of a genetic basis for susceptibility to lung cancer came from observations of individual differences in susceptibility to the same environmental risk factors ( 1 - 3 ), familial aggregation of lung cancer after accounting for personal smoking ( 4 ), increased risk of lung cancer mortality in siblings ( 5 ), and segregation analyses ( 6 - 11 ). (aacrjournals.org)
- We then performed Cox regression analysis to estimate the differential effects that smoking behaviors have on lung cancer risk according to whether each individual carried a risk-associated haplotype or could not be classified and was assigned unknown haplotypic status. (aacrjournals.org)
- Unlike the methods just mentioned, linkage analysis allows dominant, recessive or X-linked inheritance models, as well as permitting variable penetrances, non-parametric analysis and formal haplotype inference. (biomedcentral.com)
- DNA samples were subsequently examined with a genome-wide scan of single nucleotide polymorphisms and the genotypes that were produced were studied with linkage and haplotype analyses. (pubmedcentralcanada.ca)
- Haplotype analysis of nine patients carrying an R677X mutation suggested that these patients are not ancestrally related. (ugent.be)
- The power of QTL detection using the log-likelihood ratio (LOD scores) grows proportionally to the broad sense heritability. (genetics.org)
- We found that this relationship holds also for correlated traits, so that an increased bivariate heritability implicates a higher LOD score, higher detection power, and better mapping resolution. (genetics.org)
- The second edition is thoroughly revised, partly rewritten and includes now chapters on segregation analysis, twin studies and estimation of heritability. (wiley.com)
- This analysis confirms prior reports of significant heritability of sleepiness, usual bedtime, and usual sleep duration. (springer.com)
- Analysis of complex diseases under oligogenic models and intrafamilial heterogeneity by the LINKAGE programs. (currentprotocols.com)
- We performed sequential genome-wide linkage analysis and whole-exome sequencing to evaluate participants from family DUK6524. (jove.com)
- We performed a genome-wide linkage analysis in patients with cardiac laterality defects from a consanguineous family. (ahajournals.org)
- For the purposes of analysis we assume equal frequencies for the two alleles and also constrain the genotype-specific means for the first two genotypes to be equal so that M AA = M Aa . (biomedcentral.com)
- Accurate estimates of meiotic map distance cannot be obtained by any means other than by linkage analysis using genotype data. (clinicaltrials.gov)
- Mega2, which focusses on data reformatting, should not be confused with the MEGA, Molecular Evolutionary Genetics Analysis program, which focuses on molecular evolution and phylogenetics. (wikipedia.org)
- Lynch M and Walsh B (1997) Genetics and Analysis of Quantitative Characters Sunderland, MA: Sinauer Associates. (els.net)
- Combined analysis of hereditary prostate cancer linkage to 1q24-25: results from 772 hereditary prostate cancer families from the International Consortium for Prostate Cancer Genetics. (fredhutch.org)
- Parametric and nonparametric linkage analysis: A unified multipoint approach. (currentprotocols.com)
- Finally, we performed nonparametric linkage analysis which does not rely on a prior assumption of a mode of inheritance and we discovered a significant NPL score at chromosome 2q22.3-34 (Z=3.15) (Fig.3). (nih.gov)
- Analysis of all 153 families using multipoint nonparametric linkage (NPL) methods resulted in positive NPL Z-scores across the entire candidate interval (NPL Z-scores of 0.23-1.06, with corresponding one-sided P s of 0.41 and 0.15, respectively). (aacrjournals.org)
- Elston RC, Sobel E: Sampling considerations in the gathering and analysis of pedigree data. (karger.com)
- Because of the extensive consanguinity in our pedigree, we considered that a majority of affected individuals may be homozygous carriers, so we performed parametric linkage analysis under a recessive mode of inheritance. (nih.gov)
- We performed an "affecteds-only" genome-scan analysis using 43 members of the pedigree. (diva-portal.org)
- In the pedigree, analysis suggested linkage to chr 6p23 in a single branch of the pedigree, and a genome scan indicated linkage to the 6q25 region. (diva-portal.org)
- Linkage analysis revealed a region on chromosome 18 with a significant LOD score of 4.3. (eur.nl)
- Analyses of these subsets also detected no significant evidence for linkage, although LOD scores were positive at higher recombination fractions, which is consistent with the presence of a small proportion of families with linkage. (fredhutch.org)
- Association of SNPs to sleep phenotypes was analyzed with both population-based and family-based association tests, with analysis limited to 70,987 autosomal SNPs with minor allele frequency ≥10%, call rate ≥80%, and no significant deviation from Hardy-Weinberg equilibrium (p ≥ 0.001). (springer.com)
- Using linkage analysis, with composite interval mapping, I detected four significant QTLs affecting brain weight on Chrs 7, 11, and 14. (nervenet.org)
- In a combined linkage and association analysis we identify five chromosomal regions with nominally significant or suggestive evidence for linkage, several of which constitute replication of earlier linkage findings for bipolar disorder in non-Amish families. (prolekare.cz)
- Sanger sequence analysis of PTPN11 coding regions in a total of 17 MC families identified mutations in 10 of them (5 frameshift, 2 nonsense, and 3 splice-site mutations). (plos.org)
- Bioinformatic analyses suggested that both mutations are deleterious for the native three-dimensional structure of the PDE6β protein. (molvis.org)
- A cohort of 41 mostly pure HSP patients from Britain and Austria, 30 of whom displayed AD inheritance, was screened for mutations in SPG4 by single strand conformation polymorphism (SSCP) analysis followed by sequencing of samples with mobility shifts. (embl-heidelberg.de)
- Protein and transcript analyses of patients carrying either nonsense or frameshift spastin mutations revealed neither truncated protein nor mutated transcripts, providing evidence that these mutations are responsible for a loss of spastin function. (embl-heidelberg.de)
- Heath SC (1997) Markov chain Monte Carlo segregation and linkage analysis for oligogenic models. (els.net)
- Multipoint model-based linkage analysis generated a lod score of 3.13 in the same chromosomal region with a low-disease allele frequency of 0.0004 and a disease penetrance of 0.5 for the 18 African American male families. (springer.com)
- Subsequent mutation analysis revealed a novel missense mutation, which cosegregated with the disease in the family (lod score: 4.8). (jci.org)
- Mutation analysis of TNNI3 by direct sequencing identified a 87A→G nucleotide substitution of exon 8 resulting in an Asp190Gly amino acid substitution that segregated with the disease in the family (maximal two-point lode score: 4.8). (jci.org)
- We performed mutation analysis of NPHP4 in 146 unrelated patients with similar cardiac laterality defects. (ahajournals.org)
- B) The QTL identified on Chromosome V, with blue dashed lines showing the 1.5 LOD-drop interval. (nih.gov)
- The 11 African-American families had negative NPL Z-scores across the same 30-cM interval. (aacrjournals.org)
- For this reason, exome sequencing is often preceded by genetic linkage analysis, which allows variants outside of linkage peaks to be excluded. (biomedcentral.com)
- Allegro, a new computer program for multipoint linkage analysis. (currentprotocols.com)
- abstract = "This paper presents a method of performing model-free LOD-score based linkage analysis on quantitative traits. (lancs.ac.uk)
- Although the new method needs further testing on additional real and simulated data sets we can already say that it is straightforward to apply and may offer a useful complementary approach to previously available methods for the linkage analysis of quantitative traits. (lancs.ac.uk)
- Although classical LOD score analysis of quantitative traits could be implemented using the original LINKAGE programs [ 8 ], doing so would have required full specification of the transmission model which would not generally be known. (biomedcentral.com)
- We have previously described a model-free LOD-score based method of linkage analysis applicable to dichotomous traits and implemented in the MFLINK program [ 9 ], and here we describe a development which allows its application to quantitative traits. (biomedcentral.com)
- Mega2 has been used to facilitate genetic analyses of a wide variety of human traits, including hereditary dystonia, Ehlers-Danlos syndrome, multiple sclerosis, and gliomas. (wikipedia.org)
- Kruglyak L and Lander ES (1995) Complete multipoint sib‐pair analysis of qualitative and quantitative traits. (els.net)
- Statistical methods for linkage analysis of complex traits from high resolution maps of identity by descent. (currentprotocols.com)
- Ordered subset analysis in genetic linkage mapping of complex traits. (currentprotocols.com)
- A LOD score is a representation of the likelihood of a linkage between two genetic traits. (wisegeek.org)
- If the score is high, it means that the traits are closely linked, and therefore usually inherited together. (wisegeek.org)
- 11 Recently, as part of the Genetic Analysis of Idiopathic Thrombophila (GAIT) Project, we quantified the genetic contribution to susceptibility of thrombosis and related phenotypes in the Spanish population. (ahajournals.org)
- I first estimated the portion of variance in brain weight due to sex, age, body weight, litter size, and parity by regression analysis. (nervenet.org)
- A combination of risk alleles identified by genome-wide association studies led to the development of a score to predict disease severity, which could improve the management of the disease. (springer.com)
- Alleles were assigned to individuals, which allowed calculation of LOD scores. (ugent.be)
- We inferred genotypes at the location of HapMap Phase II SNPs, [ 34 ] as this resource provides comprehensive annotation, including the population allele frequencies and genetic map positions required for linkage analysis. (biomedcentral.com)
- Expected LOD score for 1000 nuclear families with 4 offspring, where σ 2 mg = 0.2, σ 2 pg = 0,…, 0.8, σ 2 e = 0.8 − σ 2 pg and σ 2 m = σ 2 mg + σ 2 pg + σ 2 e = 1. (nih.gov)
- The present study describes the application of the new method of model-free linkage analysis of a quantitative trait to a measure of blood pressure obtained from the Framingham data set. (biomedcentral.com)
- Results from linkage analysis showed strong evidence that a region of chromosome 6q affects lung cancer risk. (aacrjournals.org)
- Multipoint analysis using affected sib pairs: Incorporating linkage evidence from unlinked regions. (currentprotocols.com)
- The key is that large LOD scores indicate evidence for an association. (wisc.edu)
- We therefore initially performed parametric linkage analysis under the assumption of a dominant mode of transmission with reduced penetrance. (nih.gov)
- Multipoint lod score and nonparametric (Zlr score) linkage analyses for social phobia were completed with Allegro and Genehunter X software. (rti.org)
- We adapted our existing software [ 35 ] to extract HapMap Phase II SNP genotypes from WES data and format them for linkage analysis. (biomedcentral.com)
- Measurement of β-cell function and insulin sensitivity derived from the intravenous glucose tolerance test (IVGTT) with minimal model (MINMOD) analysis have shown high correlations with results from the euglycemic-hyperinsulinemic clamp ( 7 ). (diabetesjournals.org)
- The results of 180 healthy Japanese demonstrate that the ratio containing repeat sequences, not only segmental repeats but also long interspersed nuclear element (LINE) sequences both in the start and end regions of the CNVs, is higher in CNVs that are commonly detected among multiple individuals than that in randomly selected regions, and the conservation score based on primates is lower in these regions than in randomly selected regions. (biomedcentral.com)
- Classical linkage analysis using the multipoint Lander-Green algorithm [ 32 ], which is a HMM, incorporates genetic map and allele frequency information and allows for great flexibility in the disease model. (biomedcentral.com)
- The analysis identified a putative disease-causing sequence variation that converted a codon for glutamine to one for tryptophan in six out of the 157 individuals but in none of 174 controls. (sciencemag.org)
- Linkage analysis identified SQSTM1 , at chromosome 5q35, as directly related to the disease. (springer.com)