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  2. Linkage disequilibrium score regression - Wikipedia

    en.wikipedia.org/wiki/Linkage_disequilibrium...

    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).

  3. Linkage disequilibrium - Wikipedia

    en.wikipedia.org/wiki/Linkage_disequilibrium

    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 ...

  4. Association mapping - Wikipedia

    en.wikipedia.org/wiki/Association_Mapping

    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.

  5. Genome-wide association study - Wikipedia

    en.wikipedia.org/wiki/Genome-wide_association_study

    A key step in the majority of GWA studies is the imputation of genotypes at SNPs not on the genotype chip used in the study. [23] This process greatly increases the number of SNPs that can be tested for association, increases the power of the study, and facilitates meta-analysis of GWAS across distinct cohorts.

  6. Tag SNP - Wikipedia

    en.wikipedia.org/wiki/Tag_SNP

    The most commonly used approach, block-based method, exploits the principle of linkage disequilibrium observed within haplotype blocks. [12] Several algorithms have been devised to partition chromosomal regions into haplotype blocks which are based on haplotype diversity , LD , four-gamete test and information complexity and tag SNPs are ...

  7. Transcriptome-wide association study - Wikipedia

    en.wikipedia.org/wiki/Transcriptome-wide...

    A genome-wide association study, or GWAS, is a genetic tool that uses single nucleotide polymorphisms, or SNPs, to identify if a trait or disease is linked to a specific genetic variant. By observing if frequencies of a specific variant are more commonly associated, or higher than expected, with the given trait; an association is developed ...

  8. Haplotype block - Wikipedia

    en.wikipedia.org/wiki/Haplotype_block

    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 ...

  9. Conservation genomics - Wikipedia

    en.wikipedia.org/wiki/Conservation_Genomics

    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.