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Article

Dosage sensitivity is a major determinant of human copy number variant pathogenicity.

Nature communications - 8 Feb 2017

Rice Alan M, McLysaght Aoife

Abstract excerpt

Human copy number variants (CNVs) account for genome variation an order of magnitude larger than single-nucleotide polymorphisms. Although much of this variation has no phenotypic consequences, some variants have been associated with disease, in particular neurodevelopmental disorders. Pathogenic CNVs are typically very large and contain multiple genes, and understanding the cause of the pathogenicity remains a...

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Identifiers

PMID: 28176757
DOI: 10.1038/ncomms14366
PMCID: PMC5309798

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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