Article
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
American journal of human genetics - 1 Jun 2017
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
Abstract excerpt
With advances in genomic sequencing technology, the number of reported gene-disease relationships has rapidly expanded. However, the evidence supporting these claims varies widely, confounding accurate evaluation of genomic variation in a clinical setting. Despite the critical need to differentiate clinically valid relationships from less well-substantiated relationships, standard guidelines for such evaluation...
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