Influences of rare copy-number variation on human complex traits.

Cell
Authors
Abstract

The human genome contains hundreds of thousands of regions harboring copy-number variants (CNV). However, the phenotypic effects of most such polymorphisms are unknown because only larger CNVs have been ascertainable from SNP-array data generated by large biobanks. We developed a computational approach leveraging haplotype sharing in biobank cohorts to more sensitively detect CNVs. Applied to UK Biobank, this approach accounted for approximately half of all rare gene inactivation events produced by genomic structural variation. This CNV call set enabled a detailed analysis of associations between CNVs and 56 quantitative traits, identifying 269 independent associations (p 

Year of Publication
2022
Journal
Cell
Volume
185
Issue
22
Pages
4233-4248.e27
Date Published
2022 Oct 27
ISSN
1097-4172
DOI
10.1016/j.cell.2022.09.028
PubMed ID
36306736
Links