A genomic mutational constraint map using variation in 76,156 human genomes

Last updated at 2025-08-04Posted at 2025-08-03

S. Chen, L. C. Francioli, J. K. Goodrich, R. L. Collins, M. Kanai, Q. Wang, J. Alföldi, N. A. Watts, C. Vittal, L. D. Gauthier, T. Poterba, M. W. Wilson, Y. Tarasova, W. Phu, R. Grant, M. T. Yohannes, Z. Koenig, Y. Farjoun, E. Banks, S. Donnelly, S. Gabriel, N. Gupta, S. Ferriera, C. Tolonen, S. Novod, L. Bergelson, D. Roazen, V. Ruano-Rubio, M. Covarrubias, C. Llanwarne, N. Petrillo, G. Wade, T. Jeandet, R. Munshi, K. Tibbetts, M. Abreu, C. A. A. Salinas, T. Ahmad, C. M. Albert, D. Ardissino, I. M. Armean, E. G. Atkinson, G. Atzmon, J. Barnard, S. M. Baxter, L. Beaugerie, E. J. Benjamin, D. Benjamin, M. Boehnke, L. L. Bonnycastle, E. P. Bottinger, D. W. Bowden, M. J. Bown, H. Brand, S. Brant, T. Brookings, S. Bryant, S. E. Calvo, H. Campos, J. C. Chambers, J. C. Chan, K. R. Chao, S. Chapman, D. I. Chasman, R. Chisholm, J. Cho, R. Chowdhury, M. K. Chung, W. K. Chung, K. Cibulskis, B. Cohen, K. M. Connolly, A. Correa, B. B. Cummings, D. Dabelea, J. Danesh, D. Darbar, P. Darnowsky, J. Denny, R. Duggirala, J. Dupuis, P. T. Ellinor, R. Elosua, J. Emery, E. England, J. Erdmann, T. Esko, E. Evangelista, D. Fatkin, J. Florez, A. Franke, J. Fu, M. Färkkilä, K. Garimella, J. Gentry, G. Getz, D. C. Glahn, B. Glaser, S. J. Glatt, D. Goldstein, C. Gonzalez, L. Groop, S. Gudmundsson, A. Haessly, C. Haiman, I. Hall, C. L. Hanis, M. Harms, M. Hiltunen, M. M. Holi, C. M. Hultman, C. Jalas, M. Kallela, D. Kaplan, J. Kaprio, S. Kathiresan, E. E. Kenny, B. J. Kim, Y. J. Kim, D. King, G. Kirov, J. Kooner, S. Koskinen, H. M. Krumholz, S. Kugathasan, S. H. Kwak, M. Laakso, N. Lake, T. Langsford, K. M. Laricchia, T. Lehtimäki, M. Lek, E. Lipscomb, R. J. Loos, W. Lu, S. A. Lubitz, T. T. Luna, R. C. Ma, G. M. Marcus, J. Marrugat, K. M. Mattila, S. McCarroll, M. I. McCarthy, J. L. McCauley, D. McGovern, R. McPherson, J. B. Meigs, O. Melander, A. Metspalu, D. Meyers, E. V. Minikel, B. D. Mitchell, V. K. Mootha, A. Naheed, S. Nazarian, P. M. Nilsson, M. C. O’Donovan, Y. Okada, D. Ongur, L. Orozco, M. J. Owen, C. Palmer, N. D. Palmer, A. Palotie, K. S. Park, C. Pato, A. E. Pulver, D. Rader, N. Rahman, A. Reiner, A. M. Remes, D. Rhodes, S. Rich, J. D. Rioux, S. Ripatti, D. M. Roden, J. I. Rotter, N. Sahakian, D. Saleheen, V. Salomaa, A. Saltzman, N. J. Samani, K. E. Samocha, A. Sanchis-Juan, J. Scharf, M. Schleicher, H. Schunkert, S. Schönherr, E. G. Seaby, S. H. Shah, M. Shand, T. Sharpe, M. B. Shoemaker, T. Shyong, E. K. Silverman, M. Singer-Berk, P. Sklar, J. T. Smith, J. G. Smith, H. Soininen, H. Sokol, R. G. Son, J. Soto, T. Spector, C. Stevens, N. O. Stitziel, P. F. Sullivan, J. Suvisaari, E. S. Tai, K. D. Taylor, Y. Y. Teo, M. Tsuang, T. Tuomi, D. Turner, T. Tusie-Luna, E. Vartiainen, M. Vawter, L. Wang, A. Wang, J. S. Ware, H. Watkins, R. K. Weersma, B. Weisburd, M. Wessman, N. Whiffin, J. G. Wilson, R. J. Xavier, A. O’Donnell-Luria, M. Solomonson, C. Seed, A. R. Martin, M. E. Talkowski, H. L. Rehm, M. J. Daly, G. Tiao, B. M. Neale, D. G. MacArthur, and K. J. Karczewski. A genomic mutational constraint map using variation in 76,156 human genomes. Nature 2023 625:7993, 625:92–100, 12 2023. ISSN 1476-4687. doi: 10.1038/s41586-023-06045-0. URL https://www.nature.com/articles/s41586-023-06045-0.

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BibTex

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A genomic mutational constraint map using variation in 76,156 human genomes

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