Article

Human copy number variants are enriched in regions of low mappability

2015-12-11

Abstract excerpt

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...

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Literature Corpus work: fd9446ee-7203-58a3-9be2-84adf90efc16
DOI: 10.1101/034165

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