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Article

Integrative DNA copy number detection and genotyping from sequencing and array-based platforms.

Bioinformatics (Oxford, England) - 15 Jul 2018

Zhou Zilu, Wang Weixin, Wang Li-San, Zhang Nancy Ruonan

Abstract excerpt

Motivation: Copy number variations (CNVs) are gains and losses of DNA segments and have been associated with disease. Many large-scale genetic association studies are performing CNV analysis using whole exome sequencing (WES) and whole genome sequencing (WGS). In many of these studies, previous single-nucleotide polymorphism (SNP)-array data are available. An integrated cross-platform analysis is expected to...

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PMID: 29992253
DOI: 10.1093/bioinformatics/bty104
PMCID: PMC6041760

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