CluStrat: A Structure Informed Clustering Strategy for Population Stratification
CluStrat: A Structure Informed Clustering Strategy for Population Stratification
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CluStrat：用于人口分层的结构知情聚类策略
DOI：
10.1007/978-3-030-45257-5_19
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发表时间：
2020
期刊：
影响因子：
--
通讯作者：
Drineas, Petros
中科院分区：
文献类型：
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作者：
Bose, Aritra;Burch, Myson;Chowdhury, Agniva;Paschou, Peristera;Drineas, Petros
全基因组关联研究（GWAS）已广泛用于估计性状相关等位基因的符号效应。GWAS中的关键挑战之一是混杂因素，例如群体分层，这可能导致虚假的基因型-性状关联。最近的独立研究[1，8，10]未能复制先前报道的英国生物库队列中欧洲人身高方向选择信号的强有力证据，并将信号丢失归因于人群中的神秘相关性。
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.