CluStrat: A Structure Informed Clustering Strategy for Population Stratification
RECOMB(2020)
摘要
Genome-wide association studies (GWAS) have been extensively used to estimate the signed effects of trait-associated alleles. One of the key challenges in GWAS are confounding factors, such as population stratification, which can lead to spurious genotype-trait associations. Recent independent studies [1, 8, 10] failed to replicate the strong evidence of previously reported signals of directional selection on height in Europeans in the UK Biobank cohort, and attributed the loss of signal to cryptic relatedness in populations.
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关键词
Population Structure,Association Studies,Clustering Ridge Regression
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