High definition analyses of single cohort, whole genome sequencing data provides a direct route to defining sub-phenotypes and personalising medicine
Katie E. Joyce, Ebun Onabanjo, Sheila Brownlow, Fadumo Nur, KO Olupona, Kehinde Fakayode, Manveer Sroya, Gareth A. O. Thomas, Teena Ferguson, Julian Redhead, Carolyn M. Millar, Nichola Cooper, D. Mark Layton, F. Boardman-Pretty, Mark J. Caulfield, Claire L. Shovlin
The paper analyzes whole genome sequencing data from endothelial vasculopathy patients to identify rare variants in clinically relevant genes and their association with disease severity.
medRxiv · Aug 28, 2021 · PreprintGenetic & Genomic Medicine