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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 ...
The approach involves using regression analysis to examine the relationship between linkage disequilibrium scores and the test statistics of the single-nucleotide polymorphisms (SNPs) from the GWAS. Here, the "linkage disequilibrium score" for a SNP "is the sum of LD r 2 measured with all other SNPs". [3]
In that case the signal produced from GWAS is an indirect (synthetic) association between one or more rare causal variants in linkage disequilibrium. It is important to recognize that this phenomenon is possible when selecting a group for tag SNPs.
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]
There are two main ways that the term "haplotype block" is defined: one based on whether a given genomic sequence displays higher linkage disequilibrium than a predetermined threshold, and one based on whether the sequence consists of a minimum number of single nucleotide polymorphisms (SNPs) that explain a majority of the common haplotypes in the sequence (or a lower-than-usual number of ...
By observing if frequencies of a specific variant are more commonly associated, or higher than expected, with the given trait; an association is developed between the trait and the variant. However, many of these associations can be developed throughout an individual due to linkage disequilibrium and the large size of the genome. Although GWAS ...
Linkage disequilibrium has identified more than 30,000 hotspots within the human genome. [3] In humans, the average number of crossover recombination events per hotspot is one crossover per 1,300 meioses, and the most extreme hotspot has a crossover frequency of one per 110 meioses.