CONDEX: COpy Number Detection in EXome Sequences

被引：0

作者：

Ramachandran, Arthi ^{[1
]}

Micsinai, Mariann ^{[2
]}

Pe'er, Itsik ^{[1
]}

机构：

[1] Columbia Univ, Dept Comp Sci, 1214 Amsterdam Ave, New York, NY 10025 USA

[2] NYU, Sch Med, NYU Canc Inst, 530 First Ave, New York, NY 10016 USA

来源：

2011 IEEE INTERNATIONAL CONFERENCE ON BIOINFORMATICS AND BIOMEDICINE WORKSHOPS | 2011年

关键词：

HIDDEN-MARKOV MODEL; SNP GENOTYPING DATA; SEQ;

D O I：

暂无

中图分类号：

TP39 [计算机的应用];

学科分类号：

081203 ; 0835 ;

摘要：

Exome sequencing by hybrid capture facilitates obtaining cost-effective, comprehensive data on coding sequence variation from short reads. Standard analysis tools focus on detecting and characterizing variants of single or a few nucleotides while copy number variants (CNVs) that span multiple regions of exon baits have not yet been considered. Here, we present a Hidden Markov Model based method to identify CNVs from exome sequencing data. Using depth coverage and the heterozygosity of SNPs, we call CNVs with per-exon training data from other samples. The method has >90% accuracy in identification of deletions and insertions in simulations.

引用

页码：87 / 93

页数：7

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