-
Li, H, Bloom, JM, Farjoun, Y, Fleharty, M, Gauthier, L, Neale, B, MacArthur, D.
New synthetic-diploid benchmark for accurate variant calling evaluation.
2024
view publication
-
Poplin, R, Ruano-Rubio, V, DePristo, MA, Fennell, TJ, Carneiro, MO, Van der Auwera, GA, Kling, DE, Gauthier, LD, Levy-Moonshine, A, Roazen, D, et al.
Scaling accurate genetic variant discovery to tens of thousands of samples.
2024
view publication
-
Diogo, D, Tian, C, Franklin, CS, Alanne-Kinnunen, M, March, M, Spencer, CCA, Vangjeli, C, Weale, ME, Mattsson, H, Kilpeläinen, E, et al.
Phenome-wide association studies (PheWAS) across large “real-world data” population cohorts support drug target validation.
2024
view publication
-
Jamshidi, F, Place, EM, Mehrotra, S, Navarro-Gomez, D, Maher, M, Valkanas, E, Cherry, TJ, Lek, M, MacArthur, D, Pierce, EA, et al.
Contribution of non-coding mutations to RPGRIP1-mediated inherited retinal degeneration.
2024
view publication
-
Samocha, KE, Kosmicki, JA, Karczewski, KJ, O’Donnell-Luria, AH, Pierce-Hoffman, E, MacArthur, DG, Neale, BM, Daly, MJ.
Regional missense constraint improves variant deleteriousness prediction.
2024
view publication