Comprehensive Comparison of a Genotype-Forward vs. Phenotype-Forward Approach for Monogenic Cardiovascular Diseases in the UK Biobank Cohort
Megan E. Ramaker, Kristin Corey, Jessica A. Regan, Sara A. Coles, Jawan W. Abdulrahim, Kalyani Kottilil, Navid A. Nafissi, Kaitlyn Amos, Meghan Mac Neal, Lydia Coulter Kwee, Senthil Selvaraj, Svati Hasmukh Shah
This study compares genotype-forward and phenotype-forward approaches for detecting monogenic cardiovascular diseases in the UK Biobank, finding the genotype-forward method has a higher diagnostic yield.
medRxiv · Sep 11, 2025 · PreprintGenetic & Genomic Medicine