Penetrance estimation of monogenic variants at CAGI** Workshop

Precision medicine has potential for transforming the healthcare delivery by more effectively matching disease screening and treatment to patient’s genetic profile. Despite many successful examples, more widespread adoption of precision medicine is hampered by the complex genetic nature of most disorders, including monogenic disorders. Here, we address the methodological gaps posed by the estimation penetrance for monogenic variants. Sung will present a liability threshold model-based penetrance estimator in Polygenic Risk Scores session.