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Article

CNVs: harbingers of a rare variant revolution in psychiatric genetics.

Cell - 16 Mar 2012

Malhotra Dheeraj, Sebat Jonathan

Abstract excerpt

The genetic bases of neuropsychiatric disorders are beginning to yield to scientific inquiry. Genome-wide studies of copy number variation (CNV) have given rise to a new understanding of disease etiology, bringing rare variants to the forefront. A proportion of risk for schizophrenia, bipolar disorder, and autism can be explained by rare mutations. Such alleles arise by de novo mutation in the individual or in...

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Identifiers

PMID: 22424231
DOI: 10.1016/j.cell.2012.02.039
PMCID: PMC3351385

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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