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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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Bibliografische gegevens
Gepubliceerd in:Nucleic Acids Res
Hoofdauteurs: D'Aurizio, Romina, Pippucci, Tommaso, Tattini, Lorenzo, Giusti, Betti, Pellegrini, Marco, Magi, Alberto
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2016
Onderwerpen:
Online toegang: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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