accounting for uncertainty when assessing association between copy number and disease a latent class model占时不确定性评估协会拷贝数与疾病之间潜在的类模型.pdfVIP
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accounting for uncertainty when assessing association between copy number and disease a latent class model占时不确定性评估协会拷贝数与疾病之间潜在的类模型
BMC Bioinformatics BioMed Central
Methodology article Open Access
Accounting for uncertainty when assessing association between
copy number and disease: a latent class model
Juan R González* 1,2,3, Isaac Subirana2,3, Geòrgia Escaramís2,4,
Solymar Peraza2,1, Alejandro Cáceres1,3, Xavier Estivill4,2
and Lluís Armengol4
Address: 1Center for research in environmental epidemiology (CREAL), Barcelona, Spain, 2CIBER en Epidemiología y Salud Pública
(CIBERESP), Barcelona, Spain, 3Institut Municipal dInvestigació Mèdica (IMIM), Barcelona, Spain and 4Genes and Disease Program,
Center for Genomic Regulation, Barcelona, Spain
E-mail: Juan R González* - jrgonzalez@creal.cat; Isaac Subirana - isubirana@imim.es; Geòrgia Escaramís - georgia.escaramis@crg.es;
Solymar Peraza - speraza@creal.cat; Alejandro Cáceres - acaceres@creal.cat; Xavier Estivill - xavier.estivill@crg.es;
Lluís Armengol - lluis.armengol@crg.es
*Corresponding author
Published: 06 June 2009 Received: 12 November 2008
Accepted: 6 June 2009
BMC Bioinformatics 2009, 10:172 doi: 10.1186/1471-2105-10-172
This article is available from: /1471-2105/10/172
© 2009 González et al; licensee BioMed Central Ltd.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (/licenses/by/2.0),
which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Background: Copy number variations (CNVs) may play an important role in disease risk by
altering dosage of genes and other regulatory element
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