Prioritizing disease and trait causal variants at the TNFAIP3 locus using functional and genomic features
oleh: John P. Ray, Carl G. de Boer, Charles P. Fulco, Caleb A. Lareau, Masahiro Kanai, Jacob C. Ulirsch, Ryan Tewhey, Leif S. Ludwig, Steven K. Reilly, Drew T. Bergman, Jesse M. Engreitz, Robbyn Issner, Hilary K. Finucane, Eric S. Lander, Aviv Regev, Nir Hacohen
| Format: | Article |
|---|---|
| Diterbitkan: | Nature Portfolio 2020-03-01 |
Deskripsi
While genome-wide association studies have yielded thousands of trait-associated loci, identifying causal variants remains challenging. Here, the authors perform seven genomics assays in various cell types to prioritize genetic variants in the TNFAIP3 locus, and report high-priority variants within disease-associated haplotypes.