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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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Détails bibliographiques
Publié dans:Nucleic Acids Res
Auteurs principaux: D'Aurizio, Romina, Pippucci, Tommaso, Tattini, Lorenzo, Giusti, Betti, Pellegrini, Marco, Magi, Alberto
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2016
Sujets:
Accès en ligne: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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