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The mutational constraint spectrum quantified from variation in 141,456 humans

K. Karczewski, L. Francioli, G. Tiao, B. Cummings, J. Alföldi, Q. Wang, R. Collins, K. Laricchia, A. Ganna, D. Birnbaum, L. Gauthier, H. Brand, M. Solomonson, N. Watts, D. Rhodes, M. Singer-Berk, E. England, E. Seaby, J. Kosmicki, R. Walters, K. Tashman, Y. Farjoun, E. Banks, T. Poterba, A. Wang, C. Seed, N. Whiffin, J. Chong, K. Samocha, E. Pierce-Hoffman, Z. Zappala, A. O’Donnell-Luria, E. Minikel, B. Weisburd, M. Lek, J. Ware, C. Vittal, I. Armean, L. Bergelson, K. Cibulskis, K. Connolly, M. Covarrubias, S. Donnelly, S. Ferriera, S. Gabriel, J. Gentry, N. Gupta, T. Jeandet, D. Kaplan, C. Llanwarne, R. Munshi, S. Novod, N. Petrillo, D. Roazen, V. Ruano-Rubio, A. Saltzman, M. Schleicher, J. Soto, K. Tibbetts, C. Tolonen, G. Wade, M. Talkowski, C. Aguilar Salinas, T. Ahmad, C. Albert, D. Ardissino, G. Atzmon, J. Barnard, L. Beaugerie, E. Benjamin, M. Boehnke, L. Bonnycastle, E. Bottinger, D. Bowden, M. Bown, J. Chambers, J. Chan, D. Chasman, J. Cho, M. Chung, B. Cohen, A. Correa, D. Dabelea, M. Daly, D. Darbar, R. Duggirala, J. Dupuis, P. Ellinor, R. Elosua, J. Erdmann, T. Esko, M. Färkkilä, J. Florez, A. Franke, G. Getz, B. Glaser, S. Glatt, D. Goldstein, C. Gonzalez, L. Groop, C. Haiman, C. Hanis, M. Harms, M. Hiltunen, M. Holi, C. Hultman, M. Kallela, J. Kaprio, S. Kathiresan, B. Kim, Y. Kim, G. Kirov, J. Kooner, S. Koskinen, H. Krumholz, S. Kugathasan, S. Kwak, M. Laakso, T. Lehtimäki, R. Loos, S. Lubitz, R. Ma, D. MacArthur, J. Marrugat, K. Mattila, S. McCarroll, M. McCarthy, D. McGovern, R. McPherson, J. Meigs, O. Melander, A. Metspalu, B. Neale, P. Nilsson, M. O’Donovan, D. Ongur, L. Orozco, M. Owen, C. Palmer, A. Palotie, K. Park, C. Pato, A. Pulver, N. Rahman, A. Remes, J. Rioux, S. Ripatti, D. Roden, D. Saleheen, V. Salomaa, N. Samani, J. Scharf, H. Schunkert, M. Shoemaker, P. Sklar, H. Soininen, H. Sokol, T. Spector, P. Sullivan, J. Suvisaari, E. Tai, Y. Teo, T. Tiinamaija, M. Tsuang, D. Turner, T. Tusie-Luna, E. Vartiainen, J. Ware, H. Watkins, R. Weersma, M. Wessman, J. Wilson, R. Xavier, B. Neale, M. Daly, D. MacArthur, и G. Consortium. Nature, 581 (7809): 434--443 (2020)
DOI: 10.1038/s41586-020-2308-7

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Jeanette Erdmann

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The mutational constraint spectrum quantified from variation in 141,456 humansK. Karczewski, L. Francioli, G. Tiao, B. Cummings, J. Alföldi, Q. Wang, R. Collins, K. Laricchia, A. Ganna, D. Birnbaum и 167 other автор(ы). Nature, 581 (7809): 434--443 (2020)Genetic regulation of serum phytosterol levels and risk of coronary artery diseaseD. Teupser, R. Baber, U. Ceglarek, M. Scholz, T. Illig, C. Gieger, L. Holdt, A. Leichtle, K. Greiser, D. Huster и 34 other автор(ы). Circulation. Cardiovascular genetics, 3 (4): 331–339 (2010)Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart FailureS. Waldmüller, J. Erdmann, P. Binner, G. Gelbrich, S. Pankuweit, C. Geier, B. Timmermann, J. Haremza, A. Perrot, S. Scheer и 19 other автор(ы). European journal of heart failure, 13 (11): 1185–1192 (2011)SNPboost: Interaction Analysis and Risk Prediction on GWA Data.I. Brænne, J. Erdmann, и A. Mamlouk. ICANN (2), том 6792 из Lecture Notes in Computer Science, стр. 111-118. Springer, (2011)Deep Learning Based Detection of Collateral Circulation in Coronary Angiographies.C. Hatfaludi, D. Bunescu, C. Ciusdel, A. Serban, K. Böse, M. Oppel, S. Schröder, C. Seehase, H. Langer, J. Erdmann и 2 other автор(ы). CBMS, стр. 886-891. IEEE, (2023)Deep learning based detection of collateral circulation in coronary angiographies.C. Hatfaludi, D. Bunescu, C. Ciusdel, A. Serban, K. Böse, M. Oppel, S. Schröder, C. Seehase, H. Langer, J. Erdmann и 2 other автор(ы). CoRR, (2024)Unsupervised Plaque Segmentation on Whole Slide ImagesJ. Engster, N. Blum, T. Reinberger, P. Stagge, T. Buzug, J. Erdmann, Z. Aherrahrou, и M. Stille. Medical Imaging with Deep Learning, short paper track, (2023)A structural variation reference for medical and population genetics.R. Collins, H. Brand, K. Karczewski, X. Zhao, J. Alföldi, L. Francioli, A. Khera, C. Lowther, L. Gauthier, H. Wang и 174 other автор(ы). Nat., 581 (7809): 444-451 (2020)

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Please choose a person to relate this publication to

Jeanette Erdmann

Jeanette Niestroy

Jeanette Wagener

Jeanette Schadow

Jeanette Janssen

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