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Article

Human copy number variants are enriched in regions of low mappability.

Nucleic acids research - 21 Aug 2018

Monlong Jean, Cossette Patrick, Meloche Caroline, Rouleau Guy, Girard Simon L, Bourque Guillaume

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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PMID: 30137632
DOI: 10.1093/nar/gky538
PMCID: PMC6101599

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