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Article

Allele-specific copy-number discovery from whole-genome and whole-exome sequencing.

Nucleic acids research - 18 Aug 2015

Wang WeiBo, Wang Wei, Sun Wei, Crowley James J, Szatkiewicz Jin P

Abstract excerpt

Copy-number variants (CNVs) are a major form of genetic variation and a risk factor for various human diseases, so it is crucial to accurately detect and characterize them. It is conceivable that allele-specific reads from high-throughput sequencing data could be leveraged to both enhance CNV detection and produce allele-specific copy number (ASCN) calls. Although statistical methods have been developed to detect...

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PMID: 25883151
DOI: 10.1093/nar/gkv319
PMCID: PMC4538801

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