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Article

Copy-number variation and association studies of human disease.

Nature genetics - 1 Jul 2007

McCarroll Steven A, Altshuler David M

Abstract excerpt

The central goal of human genetics is to understand the inherited basis of human variation in phenotypes, elucidating human physiology, evolution and disease. Rare mutations have been found underlying two thousand mendelian diseases; more recently, it has become possible to assess systematically the contribution of common SNPs to complex disease. The known role of copy-number alterations in sporadic genomic...

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Identifiers

PMID: 17597780
DOI: 10.1038/ng2080

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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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