Human copy number variants are enriched in regions of low mappability

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...

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Veröffentlicht in:Nucleic acids research 2018-08, Vol.46 (14), p.7236-7249
Hauptverfasser: Monlong, Jean, Cossette, Patrick, Meloche, Caroline, Rouleau, Guy, Girard, Simon L, Bourque, Guillaume
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Sprache:eng
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