A regression framework to uncover pleiotropy in large-scale electronic health record data

Ruowang Li, Rui Duan, Daniel J. Rader, Scott M. Damrauer, Jason H. Moore, Yong Chen

Abstract: Pleiotropy, where 1 genetic locus affects multiple phenotypes, can offer significant insights in understanding the complex genotype–phenotype relationship. Although individual genotype–phenotype associations have been thoroughly explored, seemingly unrelated phenotypes can be connected genetically through common pleiotropic loci or genes. However, current analyses of pleiotropy have been challenged by both methodologic limitations and a lack of available suitable data sources.