GWAS名词

Failure rate:The proportion of missing genotypes. Genotypes are classified as missing if the genotype-calling algorithm cannot infer the genotype with sufficient confidence. Can be calculated across each individual and/or SNP.

False-negative/False-positive:假阴性/假阳性

Genotype call rate:The proportion of genotypes per marker with non-missing data.

Heterozygosity rate:The proportion of heterozygous genotypes for a given individual.

Linkage Disequilibrium:Non-random association of alleles at two or more loci.

Population substructure:The presence of distinct groups of individuals with subtle differences in allele frequency such that genetic data can be used to cluster these individuals into separate groups.

Principal components analysis:A mathematical procedure for calculating a number of orthogonal latent variables that summarize a data matrix containing many potentially correlated variables.

r2:A measure of the linkage disequilibrium (genetic correlation) between two markers. An r2 of 1 indicates that the two markers are perfectly correlated and an r2 of 0 indicates that the two markers are completely independent.

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