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Article

Protein-altering variants at copy number-variable regions influence diverse human phenotypes.

Nature genetics - 1 Apr 2024

Hujoel Margaux L A, Handsaker Robert E, Sherman Maxwell A, Kamitaki Nolan, Barton Alison R, Mukamel Ronen E, Terao Chikashi, McCarroll Steven A, Loh Po-Ru

Abstract excerpt

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...

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Identifiers

PMID: 38548989
DOI: 10.1038/s41588-024-01684-z
PMCID: PMC11018521

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