Genetic associations of protein-coding variants in human disease
Benjamin B. Sun, Mitja Kurki, Christopher N. Foley, Asma Mechakra, Chia‐Yen Chen, Eric Marshall, Jemma B. Wilk, Biogen Biobank Team, Chia-Yen Ghen, Heiko Runz, Mohamed Chahine, Philippe Chevalier, Georges Christé, FinnGen, Aarno V. Palotie, Mark J. Daly
This study combines sequencing and genotyping data from two biobanks to identify 975 protein-coding variant associations across 744 disease endpoints, enhancing understanding of genetic disease mechanisms and drug targets.
Nature · Feb 23, 2022Peer-reviewedGenetic & Genomic Medicine