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…·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.