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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...

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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 4 Sept 2026. Prepared record publication-22714937-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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