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  2. 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 ...

  3. 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).

  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. [1] [2]

  5. Tag SNP - Wikipedia

    en.wikipedia.org/wiki/Tag_SNP

    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

  6. Genome-wide association study - Wikipedia

    en.wikipedia.org/wiki/Genome-wide_association_study

    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]

  7. Haploview - Wikipedia

    en.wikipedia.org/wiki/Haploview

    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 tagSNPs [2] and estimating haplotype frequencies.

  8. Single-nucleotide polymorphism - Wikipedia

    en.wikipedia.org/wiki/Single-nucleotide_polymorphism

    A tag SNP is a representative single-nucleotide polymorphism in a region of the genome with high linkage disequilibrium (the non-random association of alleles at two or more loci). Tag SNPs are useful in whole-genome SNP association studies, in which hundreds of thousands of SNPs across the entire genome are genotyped.

  9. Transmission disequilibrium test - Wikipedia

    en.wikipedia.org/wiki/Transmission...

    The TDT measures the over-transmission of an allele from heterozygous parents to affected offsprings. The n affected offsprings have 2n parents. These can be represented by the transmitted and the non-transmitted alleles M 1 and M 2 at some genetic locus. Summarizing the data in a 2 by 2 table gives: