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Genetic analyses identify widespread sex-differential participation bias.


ABSTRACT: Genetic association results are often interpreted with the assumption that study participation does not affect downstream analyses. Understanding the genetic basis of participation bias is challenging since it requires the genotypes of unseen individuals. Here we demonstrate that it is possible to estimate comparative biases by performing a genome-wide association study contrasting one subgroup versus another. For example, we showed that sex exhibits artifactual autosomal heritability in the presence of sex-differential participation bias. By performing a genome-wide association study of sex in approximately 3.3 million males and females, we identified over 158 autosomal loci spuriously associated with sex and highlighted complex traits underpinning differences in study participation betwe

SUBMITTER: Pirastu N 

PROVIDER: S-EPMC7611642 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature