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Article

Using family data as a verification standard to evaluate copy number variation calling strategies for genetic association studies.

Genetic epidemiology - 1 Apr 2012

Zheng Xiaojing, Shaffer John R, McHugh Caitlin P, Laurie Cathy C, Feenstra Bjarke, Melbye Mads, Murray Jeffrey C, Marazita Mary L, Feingold Eleanor

Abstract excerpt

A major concern for all copy number variation (CNV) detection algorithms is their reliability and repeatability. However, it is difficult to evaluate the reliability of CNV-calling strategies due to the lack of gold-standard data that would tell us which CNVs are real. We propose that if CNVs are called in duplicate samples, or inherited from parent to child, then these can be considered validated CNVs. We used...

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Identifiers

PMID: 22714937
DOI: 10.1002/gepi.21618
PMCID: PMC3696390

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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