Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource
Natasha T. Strande, Erin Rooney Riggs, Adam H. Buchanan, Ozge Ceyhan‐Birsoy, Marina T. DiStefano, Selina S. Dwight, Jenny Goldstein, Rajarshi Ghosh, Bryce A. Seifert, Tam P. Sneddon, Matt W. Wright, Laura V. Milko, J. Michael Cherry, Monica A. Giovanni, Michael F. Murray, , Jonathan S. Berg
The paper presents a framework to evaluate the clinical validity of gene-disease associations, validated using representative gene-disease pairs.
The American Journal of Human Genetics · May 25, 2017Peer-reviewedGenetics