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Article

Accounting for uncertainty when assessing association between copy number and disease: a latent class model.

BMC bioinformatics - 6 Jun 2009

González Juan R, Subirana Isaac, Escaramís Geòrgia, Peraza Solymar, Cáceres Alejandro, Estivill Xavier, Armengol Lluís

Abstract excerpt

BACKGROUND: Copy number variations (CNVs) may play an important role in disease risk by altering dosage of genes and other regulatory elements, which may have functional and, ultimately, phenotypic consequences. Therefore, determining whether a CNV is associated or not with a given disease might be relevant in understanding the genesis and progression of human diseases. Current stage technology give CNV probe...

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Identifiers

PMID: 19500389
DOI: 10.1186/1471-2105-10-172
PMCID: PMC2707368

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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