A gene-level test for directional selection on gene expression.

ABSTRACT: Most variants identified in human genome-wide association studies and scans for selection are noncoding. Interpretation of their effects and the way in which they contribute to phenotypic variation and adaptation in human populations is therefore limited by our understanding of gene regulation and the difficulty of confidently linking noncoding variants to genes. To overcome this, we developed a gene-wise test for population-specific selection based on combinations of regulatory variants. Specifically, we use the QX statistic to test for polygenic selection on cis-regulatory variants based on whether the variance across populations in the predicted expression of a particular gene is higher than expected under neutrality. We then applied this approach to human data, testing for selection on

SUBMITTER: Colbran LL 

PROVIDER: S-EPMC10213495 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature