Mosaic patterns of selection in genomic regions associated with diverse human traits.

ABSTRACT: Natural selection shapes the genetic architecture of many human traits. However, the prevalence of different modes of selection on genomic regions associated with variation in traits remains poorly understood. To address this, we developed an efficient computational framework to calculate positive and negative enrichment of different evolutionary measures among regions associated with complex traits. We applied the framework to summary statistics from >900 genome-wide association studies (GWASs) and 11 evolutionary measures of sequence constraint, population differentiation, and allele age while accounting for linkage disequilibrium, allele frequency, and other potential confounders. We demonstrate that this framework yields consistent results across GWASs with variable sample sizes, numbe

SUBMITTER: Abraham A 

PROVIDER: S-EPMC9671423 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature