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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, and G. Consortium. Nature, 581 (7809): 434--443 (2020)
DOI: 10.1038/s41586-020-2308-7

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Erwin Böttinger

Thomas Erwin

Günther Erwin

Sven Böttinger

Ekkehard Böttinger

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Core determinants of quality criteria for mhealth for hypertension: evidence from machine learning instruments.D. de Paula, A. Sasso, J. Cöster, and E. Böttinger. CoRR, (2023)Machine Learning Based Prediction of Incident Cases of Crohn's Disease Using Electronic Health Records from a Large Integrated Health System.J. Hugo, S. Ibing, F. Borchert, J. Sachs, J. Cho, R. Ungaro, and E. Böttinger. AIME, volume 13897 of Lecture Notes in Computer Science, page 293-302. Springer, (2023)Using CEF Digital Service Infrastructures in the Smart4Health Project for the Exchange of Electronic Health Records.T. Slosarek, A. Wohlbrandt, and E. Böttinger. CoRR, (2020)Event Log Generation in a Health System: A Case Study.S. Remy, L. Pufahl, J. Sachs, E. Böttinger, and M. Weske. BPM, volume 12168 of Lecture Notes in Computer Science, page 505-522. Springer, (2020)Leveraging hierarchy in medical codes for predictive modeling.A. Singh, G. Nadkarni, J. Guttag, and E. Bottinger. BCB, page 96-103. ACM, (2014)Incorporating temporal EHR data in predictive models for risk stratification of renal function deterioration.A. Singh, G. Nadkarni, O. Gottesman, S. Ellis, E. Bottinger, and J. Guttag. J. Biomed. Informatics, (2015)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 and 174 other author(s). Nat., 581 (7809): 444-451 (2020)HPI-DHC at TREC 2018 Precision Medicine Track.M. Oleynik, E. Faessler, A. Sasso, A. Kappattanavar, B. Bergner, H. Cruz, J. Sachs, S. Datta, and E. Böttinger. TREC, volume 500-331 of NIST Special Publication, National Institute of Standards and Technology (NIST), (2018)A Machine Learning Approach for Non-Invasive Diagnosis of Metabolic Syndrome.S. Datta, A. Schraplau, H. Cruz, J. Sachs, F. Mayer, and E. Böttinger. BIBE, page 933-940. IEEE, (2019)QTL MatchMaker: a multi-species quantitative trait loci (QTL) database and query system for annotation of genes and QTL.K. Star, Q. Song, A. Zhu, and E. Böttinger. Nucleic Acids Res., 34 (Database-Issue): 586-589 (2006)

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Disambiguation of "Bottinger, Erwin P."

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

Please choose a person to relate this publication to

Erwin Böttinger

Thomas Erwin

Günther Erwin

Sven Böttinger

Ekkehard Böttinger

Other publications of authors with the same name

Disambiguation

BibSonomy

Disambiguation of "Bottinger, Erwin P."

copydeleteadd this publication to your clipboardcommunity posthistory of this postURLDOIBibTeXEndNoteAPAChicagoDIN 1505HarvardMSOffice XML The mutational constraint spectrum quantified from variation in 141,456 humans

Please choose a person to relate this publication to

Erwin Böttinger

Thomas Erwin

Günther Erwin

Sven Böttinger

Ekkehard Böttinger

Other publications of authors with the same name

Disambiguation

copy delete add this publication to your clipboard
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history of this post
URL
DOI
BibTeX
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APA
Chicago
DIN 1505
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The mutational constraint spectrum quantified from variation in 141,456 humans