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Article

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders.

Nature genetics - 1 Jul 2007

Lee Charles, Iafrate A John, Brothman Arthur R

Abstract excerpt

The recent appreciation of widespread copy number variation in the genomes of healthy human beings has presented a significant challenge to clinical cytogeneticists who wish to use genome-wide array comparative genomic hybridization (CGH) assays for clinical diagnostic purposes. Clinical cytogeneticists need to differentiate between copy number variants (CNVs) that are likely to be pathogenic and CNVs that are...

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Identifiers

PMID: 17597782
DOI: 10.1038/ng2092

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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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