Article
Genome-wide enhancer maps link risk variants to disease genes.
Nature - 1 May 2021
Nasser Joseph, Bergman Drew T, Fulco Charles P, Guckelberger Philine, Doughty Benjamin R, Patwardhan Tejal A, Jones Thouis R, Nguyen Tung H, Ulirsch Jacob C, Lekschas Fritz, Mualim Kristy, Natri Heini M, Weeks Elle M, Munson Glen, Kane Michael, Kang Helen Y, Cui Ang, Ray John P, Eisenhaure Thomas M, Collins Ryan L, Dey Kushal, Pfister Hanspeter, Price Alkes L, Epstein Charles B, Kundaje Anshul, Xavier Ramnik J, Daly Mark J, Huang Hailiang, Finucane Hilary K, Hacohen Nir, Lander Eric S, Engreitz Jesse M
Abstract excerpt
Genome-wide association studies (GWAS) have identified thousands of noncoding loci that are associated with human diseases and complex traits, each of which could reveal insights into the mechanisms of disease1. Many of the underlying causal variants may affect enhancers2,3, but we lack accurate maps of enhancers and their target genes to interpret such variants. We recently developed the activity-by-contact...
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