GeneticsGenetics in MedicinePeer-reviewed
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…·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.