Small-cohort GWAS discovery with AI over massive functional genomics knowledge graph
Kexin Huang, Tony Zeng, Soner Koc, Alexandra Pettet, Jingtian Zhou, Mika Sarkin Jain, Dongbo Sun, Camilo Ruiz, Hongyu Ren, Laurence J Howe, Tom G. Richardson, Adrián Cortés, Katie Aiello, Kim Branson, Andreas R. Pfenning, , Jure Leskovec
KGWAS improves GWAS power in small cohorts by integrating a functional knowledge graph, discovering more associations for rare diseases.
medRxiv · Dec 3, 2024 · PreprintGenetic & Genomic Medicine