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Article

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.

Nature genetics - 1 Oct 2016

Ruderfer Douglas M, Hamamsy Tymor, Lek Monkol, Karczewski Konrad J, Kavanagh David, Samocha Kaitlin E, Daly Mark J, MacArthur Daniel G, Fromer Menachem, Purcell Shaun M

Abstract excerpt

Copy number variation (CNV) affecting protein-coding genes contributes substantially to human diversity and disease. Here we characterized the rates and properties of rare genic CNVs (<0.5% frequency) in exome sequencing data from nearly 60,000 individuals in the Exome Aggregation Consortium (ExAC) database. On average, individuals possessed 0.81 deleted and 1.75 duplicated genes, and most (70%) carried at least...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27533299
DOI: 10.1038/ng.3638
PMCID: PMC5042837

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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