Trajectory of exonic variant discovery in a large clinical population: implications for variant curation-Reference-Cited by-同舟云学术

Trajectory of exonic variant discovery in a large clinical population: implications for variant curation

Published:2019-06 Issue:6 Volume:21 Page:1417-1424
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Mirshahi Uyenlinh L.,Luo Jonathan Z.,Manickam Kandamurugu,Wardeh Amr H.,Mirshahi Tooraj,Murray Michael F.,Carey David J.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/s41436-018-0353-5.pdf

Reference22 articles.

1. US Food and Drug Administration. Use of public human genetic variant databases to support clinical validity for next generation sequencing (NGS)-based in vitro diagnostics: draft guidance for stakeholders and food and drug administration staff. Center for Biologics Evaluation and Research (CBER); Office of Communication, Outreach, and Development (OCOD), Silver Spring, MD, 2016.

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