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Article

Towards an evidence-based process for the clinical interpretation of copy number variation.

Clinical genetics - 1 May 2012

Riggs E R, Church D M, Hanson K, Horner V L, Kaminsky E B, Kuhn R M, Wain K E, Williams E S, Aradhya S, Kearney H M, Ledbetter D H, South S T, Thorland E C, Martin C L

Abstract excerpt

The evidence-based review (EBR) process has been widely used to develop standards for medical decision-making and to explore complex clinical questions. This approach can be applied to genetic tests, such as chromosomal microarrays, in order to assist in the clinical interpretation of certain copy number variants (CNVs), particularly those that are rare, and guide array design for optimal clinical utility. To...

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Identifiers

PMID: 22097934
DOI: 10.1111/j.1399-0004.2011.01818.x
PMCID: PMC5008023

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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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