Conditional frequency spectra as a tool for studying selection on complex traits in biobanks.

ABSTRACT: Natural selection on complex traits is difficult to study in part due to the ascertainment inherent to genome-wide association studies (GWAS). The power to detect a trait-associated variant in GWAS is a function of frequency and effect size - but for traits under selection, the effect size of a variant determines the strength of selection against it, constraining its frequency. To account for GWAS ascertainment, we propose studying the joint distribution of allele frequencies across populations, conditional on the frequencies in the GWAS cohort. Before considering these conditional frequency spectra, we first characterized the impact of selection and non-equilibrium demography on allele frequency dynamics forwards and backwards in time. We then used these results to understand conditional

SUBMITTER: Patel RA 

PROVIDER: S-EPMC11212903 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature