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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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Podrobná bibliografie
Vydáno v:Clin Chem
Hlavní autoři: Park, Jason Y., Clark, Peter, Londin, Eric, Sponziello, Marialuisa, Kricka, Larry J., Fortina, Paolo
Médium: Artigo
Jazyk:Inglês
Vydáno: 2014
Témata:
On-line přístup: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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