Considerations for clinical curation, classification and reporting of low-penetrance and low effect size variants associated with disease risk
Ozlem Senol-Cosar, Ryan J. Schmidt, Emily Qian, Derick C. Hoskinson, Heather Mason‐Suares, Birgit Funke, Matthew S. Lebo
The paper proposes a framework for classifying and reporting low-penetrance variants associated with disease risk, emphasizing data elements and criteria for clinical inclusion.
Genetics in Medicine · May 30, 2019Peer-reviewedGenetics