Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk.
Ozlem Senol-CosarRyan J SchmidtEmily QianDerick HoskinsonHeather Mason-SuaresBirgit H FunkeMatthew S LeboPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
This framework represents an approach for classifying risk alleles and can serve as a foundation to catalyze community efforts for refinement.