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WHATIF: an open-source desktop application for extraction and management of the incidental findings from next-generation sequencing variant data

BACKGROUND: Identification and evaluation of incidental findings in patients following whole exome (WGS) or whole genome sequencing (WGS) is challenging for both practicing physicians and researchers. The American College of Medical Genetics and Genomics (ACMG) recently recommended a list of reporta...

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Detalhes bibliográficos
Publicado no:Comput Biol Med
Main Authors: Ye, Zhan, Kadolph, Christopher, Strenn, Robert, Wall, Daniel, McPherson, Elizabeth, Lin, Simon
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4598261/
https://ncbi.nlm.nih.gov/pubmed/25890833
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.compbiomed.2015.03.028
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