In work with @oahmed.bsky.social, Neha Saravanan, @nevillesanjana.bsky.social and @singht.bsky.social, we analyze and discuss how challenges in GWAS fine-mapping affect functional interpretation & experiments. TL;DR: it shouldn't be as hard as it is now. 2/3 www.biorxiv.org/content/10.6...
Current challenges in GWAS integration and fine-mapping for variant interpretation
Over the past two decades, genome-wide association studies (GWAS) have identified thousands of trait- and disease-associated loci. However, the mechanistic understanding of these loci remains incomple...
biorxiv.org
