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Article

Emerging themes and new challenges in defining the role of structural variation in human disease.

Human mutation - 1 Feb 2009

Sharp Andrew J

Abstract excerpt

The widespread use of array-comparative genomic hybridization (array-CGH) for the detection of copy number variants (CNVs) in both research and clinical laboratories has created a renaissance in the field of molecular cytogenetics, revealing that the human genome contains both a wealth of structu...

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PMID: 18837009
DOI: 10.1002/humu.20843

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18837009-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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