A phenome-wide scan reveals convergence of common and rare variant associations.

ABSTRACT:

Background

Common and rare variants contribute to the etiology of complex traits. However, the extent to which the phenotypic effects of common and rare variants involve shared molecular mediators remains poorly understood. The question is essential to the basic and translational goals of the science of genomics, with critical basic-science, methodological, and clinical consequences.

Methods

Leveraging the latest release of whole-exome sequencing (WES, for rare variants) and genome-wide association study (GWAS, for common variants) data from the UK Biobank, we developed a metric, the COmmon variant and RAre variant Convergence (CORAC) signature, to quantify the convergence for a broad range of complex traits. We characterized the relationship between CORAC and effective samp

SUBMITTER: Zhou D 

PROVIDER: S-EPMC10683189 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature