A phenome-wide association study identifies effects of copy-number variation of VNTRs and multicopy genes on multiple human traits.

ABSTRACT: The human genome contains tens of thousands of large tandem repeats and hundreds of genes that show common and highly variable copy-number changes. Due to their large size and repetitive nature, these variable number tandem repeats (VNTRs) and multicopy genes are generally recalcitrant to standard genotyping approaches and, as a result, this class of variation is poorly characterized. However, several recent studies have demonstrated that copy-number variation of VNTRs can modify local gene expression, epigenetics, and human traits, indicating that many have a functional role. Here, using read depth from whole-genome sequencing to profile copy number, we report results of a phenome-wide association study (PheWAS) of VNTRs and multicopy genes in a discovery cohort of ∼35,000 samples, identi

SUBMITTER: Garg P 

PROVIDER: S-EPMC9247821 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature