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Article

Critical evaluation of copy number variant calling methods using DNA methylation.

Genetic epidemiology - 1 Mar 2020

Kilaru Varun, Knight Anna K, Katrinli Seyma, Cobb Dawayland, Lori Adriana, Gillespie Charles F, Maihofer Adam X, Nievergelt Caroline M, Dunlop Anne L, Conneely Karen N, Smith Alicia K

Abstract excerpt

Recent technological and methodological developments have enabled the use of array-based DNA methylation data to call copy number variants (CNVs). ChAMP, Conumee, and cnAnalysis450k are popular methods currently used to call CNVs using methylation data. However, so far, no studies have analyzed the reliability of these methods using real samples. Data from a cohort of individuals with genotype and DNA methylation...

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Identifiers

PMID: 31737926
DOI: 10.1002/gepi.22269
PMCID: PMC7028453

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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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