-
Finer, S, Martin, HC, Khan, A, Hunt, KA, MacLaughlin, B, Ahmed, Z, Ashcroft, R, Durham, C, MacArthur, DG, McCarthy, MI, et al.
Cohort Profile: East London Genes & Health (ELGH), a community based population genomics and health study of British-Bangladeshi and British-Pakistani people.
2024
view publication
-
Whiffin, N, Roberts, A, Minikel, E, Zappala, Z, Walsh, R, O’Donnell-Luria, AH, Karczewski, KJ, Harrison, SM, Thomson, KL, Sage, H, et al.
Response to Shah et al: Using high-resolution variant frequencies empowers clinical genome interpretation and enables investigation of genetic architecture.
2024
view publication
-
Ulirsch, JC, Verboon, JM, Kazerounian, S, Guo, MH, Yuan, D, Ludwig, LS, Handsaker, RE, Abdulhay, NJ, Fiorini, C, Genovese, G, et al.
The Genetic Landscape of Diamond-Blackfan Anemia.
2024
view publication
-
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