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Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2

Copy Number Variants (CNVs) are structural rearrangements contributing to phenotypic variation that have been proved to be associated with many disease states. Over the last years, the identification of CNVs from whole-exome sequencing (WES) data has become a common practice for research and clinica...

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Detaylı Bibliyografya
Yayımlandı:Nucleic Acids Res
Asıl Yazarlar: D'Aurizio, Romina, Pippucci, Tommaso, Tattini, Lorenzo, Giusti, Betti, Pellegrini, Marco, Magi, Alberto
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2016
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5175347/
https://ncbi.nlm.nih.gov/pubmed/27507884
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkw695
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