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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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Bibliografiske detaljer
Udgivet i:Nucleic Acids Res
Main Authors: D'Aurizio, Romina, Pippucci, Tommaso, Tattini, Lorenzo, Giusti, Betti, Pellegrini, Marco, Magi, Alberto
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2016
Fag:
Online adgang: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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