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Article

The effect of algorithms on copy number variant detection.

PloS one - 30 Dec 2010

Tsuang Debby W, Millard Steven P, Ely Benjamin, Chi Peter, Wang Kenneth, Raskind Wendy H, Kim Sulgi, Brkanac Zoran, Yu Chang-En

Abstract excerpt

BACKGROUND: The detection of copy number variants (CNVs) and the results of CNV-disease association studies rely on how CNVs are defined, and because array-based technologies can only infer CNVs, CNV-calling algorithms can produce vastly different findings. Several authors have noted the large-scale variability between CNV-detection methods, as well as the substantial false positive and false negative rates...

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Identifiers

PMID: 21209939
DOI: 10.1371/journal.pone.0014456
PMCID: PMC3012691

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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