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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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Dettagli Bibliografici
Pubblicato in:Clin Chem
Autori principali: Park, Jason Y., Clark, Peter, Londin, Eric, Sponziello, Marialuisa, Kricka, Larry J., Fortina, Paolo
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2014
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Accesso online: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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