Marissa R. Keever-Keigher

Complex trait associations in rare diseases and impacts on Mendelian variant interpretation

This study quantifies polygenic liability in rare disease probands and finds associations between rare disease phenotypes and polygenic scores, supporting complex trait influences on Mendelian variant interpretation.

Integration of rare large-effect expression variants improves polygenic risk prediction

This study integrates rare large-effect expression variants into polygenic risk scores, showing improved prediction of complex traits by including these variants in risk assessment.