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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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Опубликовано в: :Clin Chem
Главные авторы: Park, Jason Y., Clark, Peter, Londin, Eric, Sponziello, Marialuisa, Kricka, Larry J., Fortina, Paolo
Формат: Artigo
Язык:Inglês
Опубликовано: 2014
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Online-ссылка: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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