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Clinical Exome Performance for Reporting Secondary Genetic Findings

BACKGROUND: Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genetics and Genomics (ACMG). However, the performance of clinical exome methods for reporting small subsets of genes has not been previou...

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Detalhes bibliográficos
Publicado no:Clin Chem
Main Authors: Park, Jason Y., Clark, Peter, Londin, Eric, Sponziello, Marialuisa, Kricka, Larry J., Fortina, Paolo
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4404496/
https://ncbi.nlm.nih.gov/pubmed/25414276
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1373/clinchem.2014.231456
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