Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource-Reference-Cited by-同舟云学术

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

Published:2017-06 Issue:6 Volume:100 Page:895-906
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Strande Natasha T.,Riggs Erin Rooney,Buchanan Adam H.,Ceyhan-Birsoy Ozge,DiStefano Marina,Dwight Selina S.,Goldstein Jenny,Ghosh Rajarshi,Seifert Bryce A.,Sneddon Tam P.,Wright Matt W.,Milko Laura V.,Cherry J. Michael,Giovanni Monica A.,Murray Michael F.,O’Daniel Julianne M.,Ramos Erin M.,Santani Avni B.,Scott Alan F.,Plon Sharon E.,Rehm Heidi L.,Martin Christa L.,Berg Jonathan S.

Funder

National Human Genome Research Institute

National Cancer Institute

Intramural Research Program of the NIH, National Library of Medicine

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference12 articles.

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3. Genome-wide significance testing of variation from single case exomes;Wilfert;Nat. Genet.,2016