Article

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

2017-08-04

Abstract excerpt

<h4>Motivation</h4> 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 SNP-array data are available. An integrated cross-platform analysis is expected to improve resolution and accura...

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Literature Corpus work: bafdb551-717b-5063-8dd6-333a96235001
DOI: 10.1101/172700

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