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In genetics, association mapping, also known as "linkage disequilibrium mapping", is a method of mapping quantitative trait loci (QTLs) that takes advantage of historic linkage disequilibrium to link phenotypes (observable characteristics) to genotypes (the genetic constitution of organisms), uncovering genetic associations.
Once linkage disequilibrium has been calculated for a dataset, a visualization method is often chosen to display the linkage disequilibrium to make it more easily understandable. The most common method is to use a heatmap, where colors are used to indicate the loci with positive linkage disequilibrium, and linkage equilibrium. This example ...
In statistical genetics, linkage disequilibrium score regression (LDSR [1] or LDSC [2]) is a technique that aims to quantify the separate contributions of polygenic effects and various confounding factors, such as population stratification, based on summary statistics from genome-wide association studies (GWASs).
Haploview [1] is a commonly used bioinformatics software which is designed to analyze and visualize patterns of linkage disequilibrium (LD) in genetic data. Haploview can also perform association studies, choosing tag SNPs [ 2 ] and estimating haplotype frequencies .
Arlequin is a free population genetics software distributed as an integrated GUI data analysis software. [1] It performs several types of tests and calculations, including Fixation index (F st, also known as the "F-statistics" [2]), computing genetic distance, Hardy–Weinberg equilibrium, linkage disequilibrium, analysis of molecular variance, mismatch distribution, and pairwise difference tests.
Measures of linkage disequilibrium are useful tools for gene and genome mapping. [5] A linkage between two genes may be due to their positions relative to each other in the genome or it may be due to selection acting to favor certain combinations of alleles. On a genomic scale, linkage disequilibrium plays a large analytical role.
Linkage disequilibrium (LD) is a term used in the study of population genetics for the non-random association of alleles at two or more loci, not necessarily on the same chromosome. It is not the same as linkage, which is the phenomenon whereby two or more loci on a chromosome have reduced recombination between them because of their physical ...
These factors include priorities in SNPs, relative risk of functional change in genes, and linkage disequilibrium among SNPs. [ 13 ] In addition, the availability of genetic information through online databases enables researchers to mine existing data and web-based resources for new candidate gene targets. [ 14 ]