Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort

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作者：
Armand Valsesia
Brian J Stevenson
Dawn Waterworth
Vincent Mooser
Peter Vollenweider
Gérard Waeber
C Victor Jongeneel
Jacques S Beckmann
Zoltán Kutalik
Sven Bergmann
机构：
[1] University of Lausanne,Department of Medical Genetics
[2] Swiss Institute of Bioinformatics,Department of Medicine
[3] Ludwig Institute for Cancer Research,Service of Medical Genetics
[4] Medical Genetics/Clinical Pharmacology and Discovery Medicine,undefined
[5] GlaxoSmithKline,undefined
[6] Centre Hospitalier Universitaire Vaudois,undefined
[7] Institute for Genomic Biology and National Center for Supercomputing Applications,undefined
[8] University of Illinois,undefined
[9] Centre Hospitalier Universitaire Vaudois,undefined
来源：
BMC Genomics | / 13卷
关键词：
Copy Number Variation; Gaussian Mixture Model; Copy Number Variation Region; Copy Number Ratio; Rare CNVs;
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