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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. [1] [2]
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).
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 ...
The software is designed flexibly to perform a wide range of basic, large-scale genetic analyses. PLINK currently supports following functionalities: data management; basic statistics (F ST, missing data, tests of Hardy–Weinberg equilibrium, inbreeding coefficient, etc.); Linkage disequilibrium (LD) calculation;
Over time, a pair of markers or points on a chromosome in the population move from linkage disequilibrium to linkage equilibrium, as recombination events eventually occur between every possible point on the chromosome. [1] Two loci are said to be in linkage equilibrium (LE) if their inheritance is an
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 .
Hence, GWAS is a non-candidate-driven approach, in contrast to gene-specific candidate-driven studies. GWA studies identify SNPs and other variants in DNA associated with a disease, but they cannot on their own specify which genes are causal. [1] [2] [3] The first successful GWAS published in 2002 studied myocardial infarction. [4]
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.