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Cell DOI:10.1016/j.cell.2022.09.028

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

Publication TypeJournal Article
Year of Publication2022
AuthorsHujoel, MLA, Sherman, MA, Barton, AR, Mukamel, RE, Sankaran, VG, Terao, C, Loh, P-R
JournalCell
Volume185
Issue22
Pages4233-4248.e27
Date Published2022 Oct 27
ISSN1097-4172
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 

DOI10.1016/j.cell.2022.09.028
Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/36306736?dopt=Abstract

Alternate JournalCell
PubMed ID36306736