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 |
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