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Article

Interpretation of copy number alterations identified through clinical microarray-comparative genomic hybridization.

Clinics in laboratory medicine - 1 Dec 2011

Pyatt Robert E, Astbury Caroline

Abstract excerpt

Many copy number alterations (CNA) currently interpreted as variants of unknown significance (VUS) will ultimately be determined to be benign; however, their classification requires a more extensive characterization of the human genome than currently exists. There is no definitive set of rules or level of evidence required to define a CNA as benign. The information needed to accurately assess the pathogenic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22118737
DOI: 10.1016/j.cll.2011.08.007

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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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