Ontology highlight
ABSTRACT:
SUBMITTER: Hujoel MLA
PROVIDER: S-EPMC11018521 | biostudies-literature | 2024 Apr
REPOSITORIES: biostudies-literature
Hujoel Margaux L A MLA Handsaker Robert E RE Sherman Maxwell A MA Kamitaki Nolan N Barton Alison R AR Mukamel Ronen E RE Terao Chikashi C McCarroll Steven A SA Loh Po-Ru PR
Nature genetics 20240328 4
Copy number variants (CNVs) are among the largest genetic variants, yet CNVs have not been effectively ascertained in most genetic association studies. Here we ascertained protein-altering CNVs from UK Biobank whole-exome sequencing data (n = 468,570) using haplotype-informed methods capable of detecting subexonic CNVs and variation within segmental duplications. Incorporating CNVs into analyses of rare variants predicted to cause gene loss of function (LOF) identified 100 associations of predic ...[more]