Human copy number variants are enriched in regions of low mappability

Volume: 46, Issue: 14, Pages: 7236 - 7249
Published: Jun 21, 2018
Abstract
Copy number variants (CNVs) are known to affect a large portion of the human genome and have been implicated in many diseases. Although whole-genome sequencing (WGS) can help identify CNVs, most analytical methods suffer from limited sensitivity and specificity, especially in regions of low mappability. To address this, we use PopSV, a CNV caller that relies on multiple samples to control for technical variation. We demonstrate that our calls...
Paper Details
Title
Human copy number variants are enriched in regions of low mappability
Published Date
Jun 21, 2018
Volume
46
Issue
14
Pages
7236 - 7249
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