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arXiv 2023年

作者： Prather, Ben S. Dexter, Jason Moscibrodzka, Monika Pu, Hung-Yi Bronzwaer, Thomas Davelaar, Jordy Younsi, Ziri Gammie, Charles F. Gold, Roman Wong, And George N. Akiyama, Kazunori Alberdi, Antxon Alef, Walter Algaba, Juan Carlos Anantua, Richard Asada, Keiichi Azulay, Rebecca Bach, Uwe Baczko, Anne-Kathrin Ball, David Baloković, Mislav Barrett, John Bauböck, Michi Benson, Bradford A. Bintley, Dan Blackburn, Lindy Blundell, Raymond Bouman, Katherine L. Bower, Geoffrey C. Boyce, Hope Bremer, Michael Brinkerink, Christiaan D. Brissenden, Roger Britzen, Silke Broderick, Avery E. Broguiere, Dominique Bustamante, Sandra Byun, Do-Young Carlstrom, John E. Ceccobello, Chiara Chael, Andrew Chan, Chi-Kwan Chang, Dominic O. Chatterjee, Koushik Chatterjee, Shami Chen, Ming-Tang Chen, Yongjun Cheng, Xiaopeng Cho, Ilje Christian, Pierre Conroy, Nicholas S. Conway, John E. Cordes, James M. Crawford, Thomas M. Crew, Geoffrey B. Cruz-Osorio, Alejandro Cui, Yuzhu De Laurentis, Mariafelicia Deane, Roger Dempsey, Jessica Desvignes, Gregory Dhruv, Vedant Doeleman, Sheperd S. Dougal, Sean Dzib, Sergio A. Eatough, Ralph P. Emami, Razieh Falcke, Heino Farah, Joseph Fish, Vincent L. Fomalont, Ed Alyson Ford, H. Fraga-Encinas, Raquel Freeman, William T. Friberg, Per Fromm, Christian M. Fuentes, Antonio Galison, Peter García, Roberto Gentaz, Olivier Georgiev, Boris Goddi, Ciriaco Gómez-Ruiz, Arturo I. Gómez, José L. Gu, Minfeng Gurwell, Mark Hada, Kazuhiro Haggard, Daryl Haworth, Kari Hecht, Michael H. Hesper, Ronald Heumann, Dirk Ho, Luis C. Ho, Paul Honma, Mareki Huang, Chih-Wei L. Huang, Lei Hughes, David H. Ikeda, Shiro Violette Impellizzeri, C.M. Inoue, Makoto Issaoun, Sara James, David J. Jannuzi, Buell T. Janssen, Michael Jeter, Britton Jiang, Wu Jiménez-Rosales, Alejandra Johnson, Michael D. Jorstad, Svetlana Joshi, Abhishek V. Jung, Taehyun Karami, Mansour Karuppusamy, Ramesh Kawashima, Tomohisa Keating, Garrett K. Kettenis, Mark Kim, Dong-Jin Kim, Jae-Young Kim, Jongsoo Kim, Junhan Kino, Motoki Koay, Jun Yi Kocherlakota, Prashant K CCS-2 Los Alamos National Laboratory P.O. Box 1663 Los AlamosNM87545 United States JILA Department of Astrophysical and Planetary Sciences University of Colorado BoulderCO80309 United States Department of Astrophysics IMAPP Radboud University P.O. Box 9010 Nijmegen6500 GL Netherlands Department of Physics National Taiwan Normal University No. 88 Sec.4 Tingzhou Rd. Taipei116 Taiwan Center of Astronomy and Gravitation National Taiwan Normal University No. 88 Sec. 4 Tingzhou Road Taipei116 Taiwan Institute of Astronomy and Astrophysics Academia Sinica 11F of Astronomy-Mathematics Building AS/NTU No. 1 Sec. 4 Roosevelt Rd Taipei10617 Taiwan Department of Astronomy Columbia Astrophysics Laboratory Columbia University 550 W 120th Street New YorkNY10027 United States Center for Computational Astrophysics Flatiron Institute 162 Fifth Avenue New YorkNY10010 United States Radboud University P.O. Box 9010 Nijmegen6500 GL Netherlands Mullard Space Science Laboratory University College London Holmbury St. Mary Dorking SurreyRH5 6NT United Kingdom Institut für Theoretische Physik Goethe-Universität Frankfurt Max-von-Laue-Straße 1 Frankfurt am MainD-60438 Germany Department of Physics University of Illinois 1110 West Green Street UrbanaIL61801 United States Department of Astronomy University of Illinois at Urbana-Champaign 1002 West Green Street UrbanaIL61801 United States NCSA University of Illinois 1205 W Clark St UrbanaIL61801 United States CP3-Origins University of Southern Denmark Campusvej 55 Odense MDK-5230 Denmark School of Natural Sciences Institute for Advanced Study 1 Einstein Drive PrincetonNJ08540 United States Princeton Gravity Initiative Princeton University PrincetonNJ08544 United States Massachusetts Institute of Technology Haystack Observatory 99 Millstone Road WestfordMA01886 United States National Astronomical Observatory of Japan 2-21-1 Osawa Mitaka Tokyo181-8588 Japan Harvard University 20 Gar

Interpretation of resolved polarized images of black holes by the Event Horizon Telescope (EHT) requires predictions of the polarized emission observable by an Earth-based instrument for a particular model of the black hole accretion system. Such predictions are generated by general relativistic radiative transfer (GRRT) codes, which integrate the equations of polarized radiative transfer in curved spacetime. A selection of ray-tracing GRRT codes used within the EHT collaboration is evaluated for accuracy and consistency in producing a selection of test images, demonstrating that the various methods and implementations of radiative transfer calculations are highly consistent. When imaging an analytic accretion model, we find that all codes produce images similar within a pixel-wise normalized mean squared error (NMSE) of 0.012 in the worst case. When imaging a snapshot from a cell-based magnetohydrodynamic simulation, we find all test images to be similar within NMSEs of 0.02, 0.04, 0.04, and 0.12 in Stokes I, Q, U, and V respectively. We additionally find the values of several image metrics relevant to published EHT results to be in agreement to much better precision than measurement uncertainties. © 2023, CC BY.

关键词： Mean square error

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Charm- and bottom-quark production in Au+Au collisions at sNN=200 GeV

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Physical Review C 2024年第4期109卷 044907-044907页

作者： N. J. Abdulameer U. Acharya A. Adare C. Aidala N. N. Ajitanand Y. Akiba M. Alfred N. Apadula H. Asano B. Azmoun V. Babintsev M. Bai N. S. Bandara B. Bannier K. N. Barish S. Bathe A. Bazilevsky M. Beaumier S. Beckman R. Belmont A. Berdnikov Y. Berdnikov L. Bichon B. Blankenship D. S. Blau J. S. Bok V. Borisov K. Boyle M. L. Brooks J. Bryslawskyj V. Bumazhnov S. Campbell V. Canoa Roman C.-H. Chen M. Chiu C. Y. Chi I. J. Choi J. B. Choi T. Chujo Z. Citron M. Connors R. Corliss Y. Corrales Morales M. Csanád T. Csörgő T. W. Danley A. Datta M. S. Daugherity G. David C. T. Dean K. DeBlasio K. Dehmelt A. Denisov A. Deshpande E. J. Desmond A. Dion P. B. Diss J. H. Do V. Doomra A. Drees K. A. Drees J. M. Durham A. Durum A. Enokizono R. Esha B. Fadem W. Fan N. Feege D. E. Fields M. Finger, Jr. M. Finger D. Firak D. Fitzgerald S. L. Fokin J. E. Frantz A. Franz A. D. Frawley P. Gallus C. Gal P. Garg H. Ge M. Giles F. Giordano A. Glenn Y. Goto N. Grau S. V. Greene M. Grosse Perdekamp T. Gunji T. Hachiya J. S. Haggerty K. I. Hahn H. Hamagaki H. F. Hamilton J. Hanks S. Y. Han M. Harvey S. Hasegawa T. O. S. Haseler K. Hashimoto T. K. Hemmick X. He J. C. Hill A. Hodges R. S. Hollis K. Homma B. Hong T. Hoshino N. Hotvedt J. Huang K. Imai M. Inaba A. Iordanova D. Isenhower D. Ivanishchev B. V. Jacak M. Jezghani X. Jiang Z. Ji B. M. Johnson D. Jouan D. S. Jumper S. Kanda J. H. Kang D. Kawall A. V. Kazantsev J. A. Key V. Khachatryan A. Khanzadeev A. Khatiwada B. Kimelman C. Kim D. J. Kim E.-J. Kim G. W. Kim M. Kim T. Kim D. Kincses A. Kingan E. Kistenev R. Kitamura J. Klatsky D. Kleinjan P. Kline T. Koblesky B. Komkov D. Kotov L. Kovacs B. Kurgyis K. Kurita M. Kurosawa Y. Kwon J. G. Lajoie D. Larionova A. Lebedev S. Lee S. H. Lee M. J. Leitch N. A. Lewis S. H. Lim M. X. Liu X. Li D. A. Loomis D. Lynch S. Lökös T. Majoros Y. I. Makdisi M. Makek A. Manion V. I. Manko E. Mannel M. McCumber P. L. McGaughey D. McGlinchey C. McKinney A. Meles M. Mendoza A. C. Mignerey A. Milov D. K. Mishra J. T. Mitchell M. Mitrankova Iu. Mitrankov S. Miyas Debrecen University H-4010 Debrecen Egyetem tér 1 Hungary Georgia State University Atlanta Georgia 30303 USA University of Colorado Boulder Colorado 80309 USA Department of Physics University of Michigan Ann Arbor Michigan 48109-1040 USA Chemistry Department Stony Brook University SUNY Stony Brook New York 11794-3400 USA RIKEN Nishina Center for Accelerator-Based Science Wako Saitama 351-0198 Japan RIKEN BNL Research Center Brookhaven National Laboratory Upton New York 11973-5000 USA Department of Physics and Astronomy Howard University Washington DC 20059 USA Iowa State University Ames Iowa 50011 USA Department of Physics and Astronomy Stony Brook University SUNY Stony Brook New York 11794-3800 USA Kyoto University Kyoto 606-8502 Japan Physics Department Brookhaven National Laboratory Upton New York 11973-5000 USA IHEP Protvino State Research Center of Russian Federation Institute for High Energy Physics Protvino 142281 Russia Collider-Accelerator Department Brookhaven National Laboratory Upton New York 11973-5000 USA Department of Physics University of Massachusetts Amherst Massachusetts 01003-9337 USA University of California-Riverside Riverside California 92521 USA Baruch College City University of New York New York New York 10010 USA Physics and Astronomy Department University of North Carolina at Greensboro Greensboro North Carolina 27412 USA Saint Petersburg State Polytechnic University St. Petersburg 195251 Russia Vanderbilt University Nashville Tennessee 37235 USA National Research Center “Kurchatov Institute” Moscow 123098 Russia National Research Nuclear University MEPhI Moscow Engineering Physics Institute Moscow 115409 Russia New Mexico State University Las Cruces New Mexico 88003 USA Los Alamos National Laboratory Los Alamos New Mexico 87545 USA Columbia University New York New York 10027 and Nevis Laboratories Irvington New York 10533 USA University of Illinois at Urbana-Champaign Urbana Illinois 61801 USA Je

The invariant yield of electrons from open-heavy-flavor decays for 1<pT<8 GeV/c at midrapidity |y|<0.35 in Au+Au collisions at sNN = 200 GeV has been measured by the PHENIX experiment at the BNL Relativistic ... 详细信息

The invariant yield of electrons from open-heavy-flavor decays for 1

关键词： Hadronic decays Jets & heavy flavor physics Particle & resonance production Bottom quark Charm quark Hadron colliders

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Constraints on black-hole charges with the 2017 EHT observations of M87*

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Physical Review D 2021年第10期103卷 104047-104047页

作者： Prashant Kocherlakota Luciano Rezzolla Heino Falcke Christian M. Fromm Michael Kramer Yosuke Mizuno Antonios Nathanail Héctor Olivares Ziri Younsi Kazunori Akiyama Antxon Alberdi Walter Alef Juan Carlos Algaba Richard Anantua Keiichi Asada Rebecca Azulay Anne-Kathrin Baczko David Ball Mislav Baloković John Barrett Bradford A. Benson Dan Bintley Lindy Blackburn Raymond Blundell Wilfred Boland Katherine L. Bouman Geoffrey C. Bower Hope Boyce Michael Bremer Christiaan D. Brinkerink Roger Brissenden Silke Britzen Avery E. Broderick Dominique Broguiere Thomas Bronzwaer Do-Young Byun John E. Carlstrom Andrew Chael Chi-kwan Chan Shami Chatterjee Koushik Chatterjee Ming-Tang Chen Yongjun Chen (陈永军) Paul M. Chesler Ilje Cho Pierre Christian John E. Conway James M. Cordes Thomas M. Crawford Geoffrey B. Crew Alejandro Cruz-Osorio Yuzhu Cui Jordy Davelaar Mariafelicia De Laurentis Roger Deane Jessica Dempsey Gregory Desvignes Sheperd S. Doeleman Ralph P. Eatough Joseph Farah Vincent L. Fish Ed Fomalont Raquel Fraga-Encinas Per Friberg H. Alyson Ford Antonio Fuentes Peter Galison Charles F. Gammie Roberto García Olivier Gentaz Boris Georgiev Ciriaco Goddi Roman Gold José L. Gómez Arturo I. Gómez-Ruiz Minfeng Gu (顾敏峰) Mark Gurwell Kazuhiro Hada Daryl Haggard Michael H. Hecht Ronald Hesper Luis C. Ho (何子山) Paul Ho Mareki Honma Chih-Wei L. Huang Lei Huang (黄磊) David H. Hughes Shiro Ikeda Makoto Inoue Sara Issaoun David J. James Buell T. Jannuzi Michael Janssen Britton Jeter Wu Jiang (江悟) Alejandra Jimenez-Rosales Michael D. Johnson Svetlana Jorstad Taehyun Jung Mansour Karami Ramesh Karuppusamy Tomohisa Kawashima Garrett K. Keating Mark Kettenis Dong-Jin Kim Jae-Young Kim Jongsoo Kim Junhan Kim Motoki Kino Jun Yi Koay Yutaro Kofuji Patrick M. Koch Shoko Koyama Carsten Kramer Thomas P. Krichbaum Cheng-Yu Kuo Tod R. Lauer Sang-Sung Lee Aviad Levis Yan-Rong Li (李彦荣) Zhiyuan Li (李志远) Michael Lindqvist Rocco Lico Greg Lindahl Jun Liu (刘俊) Kuo Liu Elisabetta Liuzzo Wen-Ping Lo Andrei P. Lobanov Laurent Loinard Colin Lonsdale Ru-Sen Lu Institut für Theoretische Physik Goethe-Universität Max-von-Laue-Strasse 1 60438 Frankfurt Germany Frankfurt Institute for Advanced Studies Ruth-Moufang-Strasse 1 60438 Frankfurt Germany School of Mathematics Trinity College Dublin 2 Ireland Department of Astrophysics Institute for Mathematics Astrophysics and Particle Physics (IMAPP) Radboud University P.O. Box 9010 6500 GL Nijmegen Netherlands Black Hole Initiative at Harvard University 20 Garden Street Cambridge Massachusetts 02138 USA Center for Astrophysics—Harvard & Smithsonian 60 Garden Street Cambridge Massachusetts 02138 USA Max-Planck-Institut für Radioastronomie Auf dem Hügel 69 D-53121 Bonn Germany Tsung-Dao Lee Institute and School of Physics and Astronomy Shanghai Jiao Tong University Shanghai 200240 China Institut für Theoretische Physik Goethe-Universität Frankfurt Max-von-Laue-Straße 1 D-60438 Frankfurt am Main Germany Department of Physics National and Kapodistrian University of Athens Panepistimiopolis GR 15783 Zografos Greece Mullard Space Science Laboratory University College London Holmbury St. Mary Dorking Surrey RH5 6NT United Kingdom Massachusetts Institute of Technology Haystack Observatory 99 Millstone Road Westford Massachusetts 01886 USA National Astronomical Observatory of Japan 2-21-1 Osawa Mitaka Tokyo 181-8588 Japan Instituto de Astrofísica de Andalucía-CSIC Glorieta de la Astronomía s/n E-18008 Granada Spain Department of Physics Faculty of Science University of Malaya 50603 Kuala Lumpur Malaysia Center for Computational Astrophysics Flatiron Institute 162 Fifth Avenue New York New York 10010 USA Institute of Astronomy and Astrophysics Academia Sinica 11F of Astronomy-Mathematics Building AS/NTU No. 1 Sec. 4 Roosevelt Rd Taipei 10617 Taiwan R.O.C. Departament d’Astronomia i Astrofísica Universitat de València C. Dr. Moliner 50 E-46100 Burjassot València Spain Observatori Astronòmic Universitat de València C. Catedrático José Beltrán 2 E-46980 Paterna

Our understanding of strong gravity near supermassive compact objects has recently improved thanks to the measurements made by the Event Horizon Telescope (EHT). We use here the M87* shadow size to infer constraints on the physical charges of a large variety of nonrotating or rotating black holes. For example, we show that the quality of the measurements is already sufficient to rule out that M87* is a highly charged dilaton black hole. Similarly, when considering black holes with two physical and independent charges, we are able to exclude considerable regions of the space of parameters for the doubly-charged dilaton and the Sen black holes.

关键词： Alternative gravity theories Experimental studies of gravity General relativity Radio, microwave, & sub-mm astronomy Accretion disk & black-hole plasma Classical black holes Galaxies Electromagnetic radiation astronomy

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Identified charged-hadron production in p+Al, He3+Au, and Cu+Au collisions at sNN=200GeV and in U+U collisions at sNN=193GeV

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Physical Review C 2024年第5期109卷 054910-054910页

作者： N. J. Abdulameer U. Acharya A. Adare C. Aidala N. N. Ajitanand Y. Akiba R. Akimoto J. Alexander M. Alfred V. Andrieux K. Aoki N. Apadula H. Asano E. T. Atomssa T. C. Awes B. Azmoun V. Babintsev M. Bai X. Bai N. S. Bandara B. Bannier K. N. Barish S. Bathe V. Baublis C. Baumann S. Baumgart A. Bazilevsky M. Beaumier S. Beckman R. Belmont A. Berdnikov Y. Berdnikov L. Bichon D. Black B. Blankenship D. S. Blau J. S. Bok V. Borisov K. Boyle M. L. Brooks J. Bryslawskyj H. Buesching V. Bumazhnov S. Butsyk S. Campbell V. Canoa Roman R. Cervantes C.-H. Chen D. Chen M. Chiu C. Y. Chi I. J. Choi J. B. Choi S. Choi P. Christiansen T. Chujo V. Cianciolo Z. Citron B. A. Cole M. Connors R. Corliss Y. Corrales Morales N. Cronin N. Crossette M. Csanád T. Csörgő L. D'Orazio T. W. Danley A. Datta M. S. Daugherity G. David C. T. Dean K. DeBlasio K. Dehmelt A. Denisov A. Deshpande E. J. Desmond L. Ding A. Dion P. B. Diss D. Dixit V. Doomra J. H. Do O. Drapier A. Drees K. A. Drees J. M. Durham A. Durum H. En'yo T. Engelmore A. Enokizono R. Esha K. O. Eyser B. Fadem W. Fan N. Feege D. E. Fields M. Finger, Jr. M. Finger D. Firak D. Fitzgerald F. Fleuret S. L. Fokin J. E. Frantz A. Franz A. D. Frawley Y. Fukao Y. Fukuda T. Fusayasu K. Gainey P. Gallus C. Gal P. Garg A. Garishvili I. Garishvili H. Ge M. Giles F. Giordano A. Glenn X. Gong M. Gonin Y. Goto R. Granier de Cassagnac N. Grau S. V. Greene M. Grosse Perdekamp Y. Gu T. Gunji T. Guo H. Guragain T. Hachiya J. S. Haggerty K. I. Hahn H. Hamagaki H. F. Hamilton J. Hanks S. Y. Han M. Harvey S. Hasegawa T. O. S. Haseler K. Hashimoto R. Hayano T. K. Hemmick T. Hester X. He J. C. Hill K. Hill A. Hodges R. S. Hollis K. Homma B. Hong T. Hoshino N. Hotvedt J. Huang T. Ichihara Y. Ikeda K. Imai Y. Imazu M. Inaba A. Iordanova D. Isenhower A. Isinhue D. Ivanishchev B. V. Jacak S. J. Jeon M. Jezghani X. Jiang Z. Ji B. M. Johnson K. S. Joo D. Jouan D. S. Jumper J. Kamin S. Kanda B. H. Kang J. H. Kang J. S. Kang D. Kapukchyan J. Kapustinsky S. Karthas D. Kawall A. V. Kazantsev J. A. Key V. Khachatrya Debrecen University H-4010 Debrecen Egyetem tér 1 Hungary Georgia State University Atlanta Georgia 30303 USA University of Colorado Boulder Colorado 80309 USA Los Alamos National Laboratory Los Alamos New Mexico 87545 USA Department of Physics University of Michigan Ann Arbor Michigan 48109 USA Chemistry Department State University of New York at Stony Brook Stony Brook New York 11794 USA RIKEN Nishina Center for Accelerator-Based Science Wako Saitama 351-0198 Japan RIKEN BNL Research Center Brookhaven National Laboratory Upton New York 11973 USA Center for Nuclear Study Graduate School of Science University of Tokyo 7-3-1 Hongo Bunkyo Tokyo 113-0033 Japan Department of Physics and Astronomy Howard University Washington DC 20059 USA KEK High Energy Accelerator Research Organization Tsukuba Ibaraki 305-0801 Japan Iowa State University Ames Iowa 50011 USA Department of Physics and Astronomy State University of New York at Stony Brook Stony Brook New York 11794 USA Kyoto University Kyoto 606-8502 Japan Oak Ridge National Laboratory Oak Ridge Tennessee 37831 USA Physics Department Brookhaven National Laboratory Upton New York 11973 USA IHEP Protvino State Research Center of Russian Federation Institute for High Energy Physics Protvino 142281 Russia Collider-Accelerator Department Brookhaven National Laboratory Upton New York 11973 USA Science and Technology on Nuclear Data Laboratory China Institute of Atomic Energy Beijing 102413 People's Republic of China Department of Physics University of Massachusetts Amherst Massachusetts 01003 USA University of California-Riverside Riverside California 92521 USA Baruch College City University of New York New York New York 10010 USA Petersburg Nuclear Physics Institute Gatchina Leningrad Region 188300 Russia Physics and Astronomy Department University of North Carolina at Greensboro Greensboro North Carolina 27412 USA Vanderbilt University Nashville Tennessee 37235 USA Saint Petersburg Stat

The PHENIX experiment has performed a systematic study of identified charged-hadron (π±, K±, p, p¯) production at midrapidity in p+Al, He3+Au, and Cu+Au collisions at sNN=200GeV and U+U collisions at sNN=193GeV. Identified charged-hadron invariant transverse-momentum (pT) and transverse-mass (mT) spectra are presented and interpreted in terms of radially expanding thermalized systems. The particle ratios of K/π and p/π have been measured in different centrality ranges of large (Cu+Au and U+U) and small (p+Al and He3+Au) collision systems. The values of K/π ratios measured in all considered collision systems were found to be consistent with those measured in p+p collisions. However, the values of p/π ratios measured in large collision systems reach the values of ≈0.6, which is a factor of ≈2 larger than in p+p collisions. These results can be qualitatively understood in terms of the baryon enhancement expected from hadronization by recombination. Identified charged-hadron nuclear-modification factors (RAB) are also presented. Enhancement of proton RAB values over meson RAB values was observed in central He3+Au, Cu+Au, and U+U collisions. The proton RAB values measured in the p+Al collision system were found to be consistent with RAB values of ϕ, π±, K±, and π0 mesons, which may indicate that the size of the system produced in p+Al collisions is too small for recombination to cause a noticeable increase in proton production.

关键词： Hadron production Relativistic heavy-ion collisions Hadrons Kaons Pions Protons

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Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

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Nature 2024年第8003期627卷 347-357页

作者： Ken Suzuki Konstantinos Hatzikotoulas Lorraine Southam Henry J Taylor Xianyong Yin Kim M Lorenz Ravi Mandla Alicia Huerta-Chagoya Giorgio E M Melloni Stavroula Kanoni Nigel W Rayner Ozvan Bocher Ana Luiza Arruda Kyuto Sonehara Shinichi Namba Simon S K Lee Michael H Preuss Lauren E Petty Philip Schroeder Brett Vanderwerff Mart Kals Fiona Bragg Kuang Lin Xiuqing Guo Weihua Zhang Jie Yao Young Jin Kim Mariaelisa Graff Fumihiko Takeuchi Jana Nano Amel Lamri Masahiro Nakatochi Sanghoon Moon Robert A Scott James P Cook Jung-Jin Lee Ian Pan Daniel Taliun Esteban J Parra Jin-Fang Chai Lawrence F Bielak Yasuharu Tabara Yang Hai Gudmar Thorleifsson Niels Grarup Tamar Sofer Matthias Wuttke Chloé Sarnowski Christian Gieger Darryl Nousome Stella Trompet Soo-Heon Kwak Jirong Long Meng Sun Lin Tong Wei-Min Chen Suraj S Nongmaithem Raymond Noordam Victor J Y Lim Claudia H T Tam Yoonjung Yoonie Joo Chien-Hsiun Chen Laura M Raffield Bram Peter Prins Aude Nicolas Lisa R Yanek Guanjie Chen Jennifer A Brody Edmond Kabagambe Ping An Anny H Xiang Hyeok Sun Choi Brian E Cade Jingyi Tan K Alaine Broadaway Alice Williamson Zoha Kamali Jinrui Cui Manonanthini Thangam Linda S Adair Adebowale Adeyemo Carlos A Aguilar-Salinas Tarunveer S Ahluwalia Sonia S Anand Alain Bertoni Jette Bork-Jensen Ivan Brandslund Thomas A Buchanan Charles F Burant Adam S Butterworth Mickaël Canouil Juliana C N Chan Li-Ching Chang Miao-Li Chee Ji Chen Shyh-Huei Chen Yuan-Tsong Chen Zhengming Chen Lee-Ming Chuang Mary Cushman John Danesh Swapan K Das H Janaka de Silva George Dedoussis Latchezar Dimitrov Ayo P Doumatey Shufa Du Qing Duan Kai-Uwe Eckardt Leslie S Emery Daniel S Evans Michele K Evans Krista Fischer James S Floyd Ian Ford Oscar H Franco Timothy M Frayling Barry I Freedman Pauline Genter Hertzel C Gerstein Vilmantas Giedraitis Clicerio González-Villalpando Maria Elena González-Villalpando Penny Gordon-Larsen Myron Gross Lindsay A Guare Sophie Hackinger Liisa Hakaste Sohee Han Andrew T Hattersley Christian Herder Momoko Horikoshi Annie-Green Howard Willa Centre for Genetics and Genomics Versus Arthritis Centre for Musculoskeletal Research Division of Musculoskeletal and Dermatological Sciences University of Manchester Manchester UK. Department of Diabetes and Metabolic Diseases Graduate School of Medicine University of Tokyo Tokyo Japan. Department of Statistical Genetics Osaka University Graduate School of Medicine Suita Japan. Institute of Translational Genomics Helmholtz Zentrum München German Research Center for Environmental Health Neuherberg Germany. konstantinos.hatzikotoulas@helmholtz-munich.de. Institute of Translational Genomics Helmholtz Zentrum München German Research Center for Environmental Health Neuherberg Germany. Center for Precision Health Research National Human Genome Research Institute National Institutes of Health Bethesda MD USA. British Heart Foundation Cardiovascular Epidemiology Unit Department of Public Health and Primary Care University of Cambridge Cambridge UK. Heart and Lung Research Institute University of Cambridge Cambridge UK. Department of Epidemiology School of Public Health Nanjing Medical University Nanjing China. Department of Biostatistics and Center for Statistical Genetics University of Michigan Ann Arbor MI USA. Corporal Michael J. Crescenz VA Medical Center Philadelphia PA USA. Department of Systems Pharmacology and Translational Therapeutics University of Pennsylvania Perelman School of Medicine Philadelphia PA USA. Department of Genetics University of Pennsylvania Perelman School of Medicine Philadelphia PA USA. Programs in Metabolism and Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA. Diabetes Unit and Center for Genomic Medicine Massachusetts General Hospital Boston MA USA. TIMI Study Group Division of Cardiovascular Medicine Brigham and Women's Hospital Harvard Medical School Boston MA USA. William Harvey Research Institute Barts and the London School of Medicine and Dentistry Queen Mary University of London L

Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes and molecular mechanisms that are often specific to cell type. Here, to characterize the genetic contribution to these processes across ancestry groups, we aggregate genome-wide association study data from 2,535,601 individuals (39.7% not of European ancestry), including 428,452 cases of T2D. We identify 1,289 independent association signals at genome-wide significance (P < 5 × 10) that map to 611 loci, of which 145 loci are, to our knowledge, previously unreported. We define eight non-overlapping clusters of T2D signals that are characterized by distinct profiles of cardiometabolic trait associations. These clusters are differentially enriched for cell-type-specific regions of open chromatin, including pancreatic islets, adipocytes, endothelial cells and enteroendocrine cells. We build cluster-specific partitioned polygenic scores in a further 279,552 individuals of diverse ancestry, including 30,288 cases of T2D, and test their association with T2D-related vascular outcomes. Cluster-specific partitioned polygenic scores are associated with coronary artery disease, peripheral artery disease and end-stage diabetic nephropathy across ancestry groups, highlighting the importance of obesity-related processes in the development of vascular outcomes. Our findings show the value of integrating multi-ancestry genome-wide association study data with single-cell epigenomics to disentangle the aetiological heterogeneity that drives the development and progression of T2D. This might offer a route to optimize global access to genetically informed diabetes care.

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Global burden of 369 diseases and injuries in 204 countries and territories, 1990–2019: a systematic analysis for the Global Burden of Disease study 2019

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The Lancet 2020年第10258期396卷 1204-1222页

作者： Abbafati, Cristiana Abbas, Kaja M. Abbasi, Mohammad Abbasifard, Mitra Abbasi-Kangevari, Mohsen Abbastabar, Hedayat Abd-Allah, Foad Abdelalim, Ahmed Abdollahi, Mohammad Abdollahpour, Ibrahim Abedi, Aidin Abedi, Parisa Abegaz, Kedir Hussein Abolhassani, Hassan Abosetugn, Akine Eshete Aboyans, Victor Abrams, Elissa M. Abreu, Lucas Guimarães Abrigo, Michael R.M. Abu Haimed, Abdulaziz Khalid Abualhasan, Ahmed Abu-Gharbieh, Eman Abu-Raddad, Laith Jamal Abushouk, Abdelrahman I. Acebedo, Alyssa Ackerman, Ilana N. Adabi, Maryam Adair, Tim Adamu, Abdu A. Adebayo, Oladimeji M. Adedeji, Isaac Akinkunmi Adekanmbi, Victor Adelson, Jaimie D. Adeoye, Abiodun Moshood Adetokunboh, Olatunji O. Adham, Davoud Advani, Shailesh M. Afarideh, Mohsen Afshari, Mahdi Afshin, Ashkan Agardh, Emilie E. Agarwal, Gina Agasthi, Pradyumna Agesa, Kareha M. Aghaali, Mohammad Aghamir, Seyed Mohammad Kazem Agrawal, Anurag Ahmad, Tauseef Ahmadi, Alireza Ahmadi, Keivan Ahmadi, Mehdi Ahmadieh, Hamid Ahmadpour, Ehsan Ahmed, Muktar Beshir Aji, Budi Akalu, Temesgen Yihunie Akinyemi, Rufus Olusola Akinyemiju, Tomi Akombi, Blessing Akunna, Chisom Joyqueenet Alahdab, Fares Al-Aly, Ziyad Alam, Khurshid Alam, Noore Alam, Samiah Alam, Tahiya Alanezi, Fahad Mashhour Alanzi, Turki M. Albertson, Samuel B. Alcalde-Rabanal, Jacqueline Elizabeth Alema, Niguse Meles Alemu, Biresaw Wassihun Alemu, Yihun Mulugeta Alhabib, Khalid F. Alhassan, Robert Kaba Ali, Muhammad Ali, Saqib Alicandro, Gianfranco Alijanzadeh, Mehran Alinia, Cyrus Alipour, Vahid Alizade, Hesam Aljunid, Syed Mohamed Alla, François Allebeck, Peter Almadi, Majid Abdulrahman Hamad Almasi, Ali Almasi-Hashiani, Amir Almasri, Nihad A. Al-Mekhlafi, Hesham M. Almulhim, Abdulaziz M. Alonso, Jordi Al-Raddadi, Rajaa M. Altirkawi, Khalid A. Alumran, Arwa Khalid Alvis-Guzman, Nelson Alvis-Zakzuk, Nelson J. Amare, Azmeraw T. Amare, Bekalu Amini, Saeed Amini-Rarani, Mostafa Aminorroaya, Arya Amiri, Fatemeh Amit, Arianna Maever L. Amugsi, Dickson A. Amul, Gianna Gayle Herrera Anbesu, Etsay Woldu Ancuceanu, Robert Anderl Department of Juridical and Economic Studies La Sapienza University Rome Italy Department of Infectious Disease Epidemiology London School of Hygiene and Tropical Medicine London United Kingdom Social Determinants of Health Research Center Tehran Iran Department of Neurology Cairo University Cairo Egypt School of Pharmacy Tehran Iran The Institute of Pharmaceutical Sciences (TIPS) Tehran Iran Neuroscience Research Center Isfahan University of Medical Sciences Isfahan Iran Biostatistics Department Near East University Nicosia Cyprus Biostatistics and Health Informatics Madda Walabu University Bale Robe Ethiopia Research Center for Immunodeficiencies Tehran Iran Karolinska University Hospital Huddinge Sweden Department of Cardiology Dupuytren University Hospital Limoges France University of Limoges Limoges France Department of Pediatric Dentistry Federal University of Minas Gerais Belo Horizonte Brazil Department of Research Philippine Institute for Development Studies Quezon City Philippines Department of Healthcare Policy and Research Weill Cornell Medical College in Qatar Doha Qatar Harvard Medical School Boston MA United States Department of Medicine Ain Shams University Cairo Egypt Hamadan University of Medical Sciences Hamadan Iran School of Medicine Cardiff University Cardiff United Kingdom School of Laboratory Medicine and Science University College Hospital Ibadan Ibadan Nigeria Institute of Cardiovascular Diseases University of Ibadan Ibadan Nigeria Centre of Excellence for Epidemiological Modelling and Analysis Stellenbosch University Cape Town South Africa Department of Global Health Stellenbosch University Cape Town South Africa School of Health Ardabil University of Medical Science Ardabil Iran Social Behavioral Research Branch National Institute of Health Bethesda MD United States Department of Oncology Georgetown University Washington DC DC United States Department of Health Metrics Sciences School of Medicine Seattle WA

Background: In an era of shifting global agendas and expanded emphasis on non-communicable diseases and injuries along with communicable diseases, sound evidence on trends by cause at the national level is essential. The Global Burden of Diseases, Injuries, and Risk Factors study (GBD) provides a systematic scientific assessment of published, publicly available, and contributed data on incidence, prevalence, and mortality for a mutually exclusive and collectively exhaustive list of diseases and injuries. Methods: GBD estimates incidence, prevalence, mortality, years of life lost (YLLs), years lived with disability (YLDs), and disability-adjusted life-years (DALYs) due to 369 diseases and injuries, for two sexes, and for 204 countries and territories. Input data were extracted from censuses, household surveys, civil registration and vital statistics, disease registries, health service use, air pollution monitors, satellite imaging, disease notifications, and other sources. Cause-specific death rates and cause fractions were calculated using the Cause of Death Ensemble model and spatiotemporal Gaussian process regression. Cause-specific deaths were adjusted to match the total all-cause deaths calculated as part of the GBD population, fertility, and mortality estimates. Deaths were multiplied by standard life expectancy at each age to calculate YLLs. A Bayesian meta-regression modelling tool, DisMod-MR 2.1, was used to ensure consistency between incidence, prevalence, remission, excess mortality, and cause-specific mortality for most causes. Prevalence estimates were multiplied by disability weights for mutually exclusive sequelae of diseases and injuries to calculate YLDs. We considered results in the context of the Socio-demographic Index (SDI), a composite indicator of income per capita, years of schooling, and fertility rate in females younger than 25 years. Uncertainty intervals (UIs) were generated for every metric using the 25th and 975th ordered 1000 draw value

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Dense sampling of bird diversity increases power of comparative genomics (vol 587, pg 252, 2020)

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NATURE 2021年第7856期592卷 E24-E24页

作者： Feng, Shaohong Stiller, Josefin Deng, Yuan Armstrong, Joel Fang, Qi Reeve, Andrew Hart Xie, Duo Chen, Guangji Guo, Chunxue Faircloth, Brant C. Petersen, Bent Wang, Zongji Zhou, Qi Diekhans, Mark Chen, Wanjun Andreu-Sanchez, Sergio Margaryan, Ashot Howard, Jason Travis Parent, Carole Pacheco, George Sinding, Mikkel-Holger S. Puetz, Lara Cavill, Emily Ribeiro, Angela M. Eckhart, Leopold Fjeldsa, Jon Hosner, Peter A. Brumfield, Robb T. Christidis, Les Bertelsen, Mads F. Sicheritz-Ponten, Thomas Tietze, Dieter Thomas Robertson, Bruce C. Song, Gang Borgia, Gerald Claramunt, Santiago Lovette, Irby J. Cowen, Saul J. Njoroge, Peter Dumbacher, John Philip Ryder, Oliver A. Fuchs, Jerome Bunce, Michael Burt, David W. Cracraft, Joel Meng, Guanliang Hackett, Shannon J. Ryan, Peter G. Jonsson, Knud Andreas Jamieson, Ian G. da Fonseca, Rute R. Braun, Edward L. Houde, Peter Mirarab, Siavash Suh, Alexander Hansson, Bengt Ponnikas, Suvi Sigeman, Hanna Stervander, Martin Frandsen, Paul B. van der Zwan, Henriette van der Sluis, Rencia Visser, Carina Balakrishnan, Christopher N. Clark, Andrew G. Fitzpatrick, John W. Bowman, Reed Chen, Nancy Cloutier, Alison Sackton, Timothy B. Edwards, Scott V. Foote, Dustin J. Shakya, Subir B. Sheldon, Frederick H. Vignal, Alain Soares, Andre E. R. Shapiro, Beth Gonzalez-Solis, Jacob Ferrer-Obiol, Joan Rozas, Julio Riutort, Marta Tigano, Anna Friesen, Vicki Dalen, Love Urrutia, Araxi O. Szekely, Tamas Liu, Yang Campana, Michael G. Corvelo, Andre Fleischer, Robert C. Rutherford, Kim M. Gemmell, Neil J. Dussex, Nicolas Mouritsen, Henrik Thiele, Nadine Delmore, Kira Liedvogel, Miriam Franke, Andre Hoeppner, Marc P. Krone, Oliver Fudickar, Adam M. Mila, Borja Ketterson, Ellen D. Fidler, Andrew Eric Friis, Guillermo Parody-Merino, Angela M. Battley, Phil F. Cox, Murray P. Lima, Nicholas Costa Barroso Prosdocimi, Francisco Parchman, Thomas Lee Schlinger, Barney A. Loiselle, Bette A. Blake, John G. Lim, Haw Chuan Day, Lainy B. Fuxjager, Matthew J. Baldwin, Maude W. Braun, Michael J. Wirthlin, Morgan Dikow, China National GeneBank BGI-Shenzhen Shenzhen China State Key Laboratory of Genetic Resources and Evolution Kunming Institute of Zoology Chinese Academy of Sciences Kunming China BGI-Shenzhen Shenzhen China Villum Centre for Biodiversity Genomics Section for Ecology and Evolution Department of Biology University of Copenhagen Copenhagen Denmark BGI Education Center University of Chinese Academy of Sciences Shenzhen China MOE Laboratory of Biosystems Homeostasis and Protection Life Sciences Institute Zhejiang University Hangzhou China Department of Neuroscience and Developmental Biology University of Vienna Vienna Austria Center for Excellence in Animal Evolution and Genetics Chinese Academy of Sciences Kunming China James D. Watson Institute of Genome Sciences Hangzhou China UC Santa Cruz Genomics Institute UC Santa Cruz Santa Cruz CA USA Natural History Museum of Denmark University of Copenhagen Copenhagen Denmark Center for Macroecology Evolution and Climate GLOBE Institute University of Copenhagen Copenhagen Denmark Department of Biological Sciences Louisiana State University Baton Rouge LA USA Museum of Natural Science Louisiana State University Baton Rouge LA USA Centre of Excellence for Omics-Driven Computational Biodiscovery (COMBio) Faculty of Applied Sciences AIMST University Kedah Malaysia Section for Evolutionary Genomics The GLOBE Institute Faculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark Institute of Molecular Biology National Academy of Sciences Yerevan Armenia University Museum Norwegian University of Science and Technology Trondheim Norway Center for Reproductive Medicine The 2nd Affiliated Hospital School of Medicine Zhejiang University Hangzhou China Novogene Durham NC USA Duke University Medical Center Durham NC USA The Rockefeller University New York NY USA Howard Hughes Medical Institute Chevy Chase MD USA Department of Dermatology Medical University of Vienna Vienna Austria

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The mutational constraint spectrum quantified from variation in 141,456 humans (vol 581, pg 434, 2020)

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NATURE 2021年第7874期597卷 E3-E4页

作者： Gudmundsson, Sanna Karczewski, Konrad J. Francioli, Laurent C. Tiao, Grace Cummings, Beryl B. Alfoldi, Jessica Wang, Qingbo Collins, Ryan L. Laricchia, Kristen M. Ganna, Andrea Birnbaum, Daniel P. Gauthier, Laura D. Brand, Harrison Solomonson, Matthew Watts, Nicholas A. Rhodes, Daniel Singer-Berk, Moriel England, Eleina M. Seaby, Eleanor G. Kosmicki, Jack A. Walters, Raymond K. Tashman, Katherine Farjoun, Yossi Banks, Eric Poterba, Timothy Wang, Arcturus Seed, Cotton Whiffin, Nicola Chong, Jessica X. Samocha, Kaitlin E. Pierce-Hoffman, Emma Zappala, Zachary O'Donnell-Luria, Anne H. Minikel, Eric Vallabh Weisburd, Ben Lek, Monkol Ware, James S. Vittal, Christopher Armean, Irina M. Bergelson, Louis Cibulskis, Kristian Connolly, Kristen M. Covarrubias, Miguel Donnelly, Stacey Ferriera, Steven Gabriel, Stacey Gentry, Jeff Gupta, Namrata Jeandet, Thibault Kaplan, Diane Llanwarne, Christopher Munshi, Ruchi Novod, Sam Petrillo, Nikelle Roazen, David Ruano-Rubio, Valentin Saltzman, Andrea Schleicher, Molly Soto, Jose Tibbetts, Kathleen Tolonen, Charlotte Wade, Gordon Talkowski, Michael E. Neale, Benjamin M. Daly, Mark J. MacArthur, Daniel G. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Division of Genetics and Genomics Boston Children’s Hospital Boston MA USA Program in Biological and Biomedical Sciences Harvard Medical School Boston MA USA Program in Bioinformatics and Integrative Genomics Harvard Medical School Boston MA USA Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Institute for Molecular Medicine Finland Helsinki Finland Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA National Heart & Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK Cardiovascular Research Centre Royal Brompton & Harefield Hospitals NHS Trust London UK Vertex Pharmaceuticals Inc Boston MA USA Department of Pediatrics Harvard Medical School Boston MA USA Broad Genomics Broad Institute of MIT and Harvard Cambridge MA USA Department of Neurology Harvard Medical School Boston MA USA Cardiac Arrhythmia Service and Cardiovascular Research Center Massachusetts General Hospital Boston MA USA Estonian Genome Center Institute of Genomics University of Tartu Tartu Estonia Data Sciences Platform Broad Institute of MIT and Harvard Cambridge MA USA Diabetes Unit Massachusetts General Hospital Boston MA USA Program in Metabolism Broad Institute of MIT and Harvard Cambridge MA USA Department of Medicine Harvard Medical School Boston MA USA Division of General Internal Medicine Massachusetts General Hospital Boston MA USA Department of Public Health Faculty of Medicine University of Helsinki Helsinki Finland Cardiovascular Disease Initiative and Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Genomics Diabetes and Endocrinology Lund University Lund Sweden Folkhälsan Institute of Genetics Folkhälsan Research C

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Stroke genetics informs drug discovery and risk prediction across ancestries (vol 611, pg 115, 2022)

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NATURE 2022年第7938期612卷 E7-E7页

作者： Mishra, Aniket Malik, Rainer Hachiya, Tsuyoshi Jurgenson, Tuuli Namba, Shinichi Posner, Daniel C. Kamanu, Frederick K. Koido, Masaru Le Grand, Quentin Shi, Mingyang He, Yunye Georgakis, Marios K. Caro, Ilana Krebs, Kristi Liaw, Yi-Ching Vaura, Felix C. Lin, Kuang Winsvold, Bendik Slagsvold Srinivasasainagendra, Vinodh Parodi, Livia Bae, Hee-Joon Chauhan, Ganesh Chong, Michael R. Tomppo, Liisa Akinyemi, Rufus Roshchupkin, Gennady V. Habib, Naomi Jee, Yon Ho Thomassen, Jesper Qvist Abedi, Vida Carcel-Marquez, Jara Nygaard, Marianne Leonard, Hampton L. Yang, Chaojie Yonova-Doing, Ekaterina Knol, Maria J. Lewis, Adam J. Judy, Renae L. Ago, Tetsuro Amouyel, Philippe Armstrong, Nicole D. Bakker, Mark K. Bartz, Traci M. Bennett, David A. Bis, Joshua C. Bordes, Constance Borte, Sigrid Cain, Anael Ridker, Paul M. Cho, Kelly Chen, Zhengming Cruchaga, Carlos Cole, John W. de Jager, Phil L. de Cid, Rafael Endres, Matthias Ferreira, Leslie E. Geerlings, Mirjam I. Gasca, Natalie C. Gudnason, Vilmundur Hata, Jun He, Jing Heath, Alicia K. Ho, Yuk-Lam Havulinna, Aki S. Hopewell, Jemma C. Hyacinth, I. Hyacinth Inouye, Michael Jacob, Mina A. Jeon, Christina E. Jern, Christina Kamouchi, Masahiro Keene, Keith L. Kitazono, Takanari Kittner, Steven J. Konuma, Takahiro Kumar, Amit Lacaze, Paul Launer, Lenore J. Lee, Keon-Joo Lepik, Kaido Li, Jiang Li, Liming Manichaikul, Ani Markus, Hugh S. Marston, Nicholas A. Meitinger, Thomas Mitchell, Braxton D. Montellano, Felipe A. Morisaki, Takayuki Mosley, Thomas H. Nalls, Mike A. Nordestgaard, Borge G. O'Donnell, Martin J. Okada, Yukinori Onland-Moret, N. Charlotte Ovbiagele, Bruce Peters, Annette Psaty, Bruce M. Rich, Stephen S. Rosand, Jonathan Sabatine, Marc S. Sacco, Ralph L. Saleheen, Danish Sandset, Else Charlotte Salomaa, Veikko Sargurupremraj, Muralidharan Sasaki, Makoto Satizabal, Claudia L. Schmidt, Carsten O. Shimizu, Atsushi Smith, Nicholas L. Sloane, Kelly L. Sutoh, Yoichi Sun, Yan V. Tanno, Kozo Tiedt, Steffen Tatlisumak, Turgut Torres-Aguila, Nuria P. Tiwari, Hemant K. Tregouet, Bordeaux Population Health Research Center University of Bordeaux Inserm UMR 1219 Bordeaux France Department of Public Health Bordeaux University Hospital Bordeaux France Department of Neurology Memory Clinic Bordeaux University Hospital Bordeaux France Department of Neurology Institute for Neurodegenerative Diseases CHU de Bordeaux Bordeaux France Institute for Stroke and Dementia Research (ISD) University Hospital LMU Munich Munich Germany Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Program in Medical and Population Genetics Broad Institute of Harvard and the Massachusetts Institute of Technology Cambridge MA USA Munich Cluster for Systems Neurology Munich Germany German Center for Neurodegenerative Diseases (DZNE) Munich Germany Iwate Tohoku Medical Megabank Organization Iwate Medical University Iwate Japan Estonian Genome Centre Institute of Genomics University of Tartu Tartu Estonia Institute of Mathematics and Statistics University of Tartu Tartu Estonia Department of Computational Biology University of Lausanne Lausanne Switzerland Swiss Institute of Bioinformatics Lausanne Switzerland University Center for Primary Care and Public Health Lausanne Switzerland Department of Statistical Genetics Osaka University Graduate School of Medicine Suita Japan Department of Genome Informatics Graduate School of Medicine The University of Tokyo Tokyo Japan Laboratory for Systems Genetics RIKEN Center for Integrative Medical Sciences Yokohama Japan Laboratory of Statistical Immunology Immunology Frontier Research Center (WPI-IFReC) Osaka University Suita Japan Integrated Frontier Research for Medical Science Division Institute for Open and Transdisciplinary Research Initiatives Osaka University Suita Japan Center for Infectious Disease Education and Research (CiDER) Osaka University Suita Japan Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC) VA Boston Healthcare System Boston MA USA TIMI S

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The mutational constraint spectrum quantified from variation in 141,456 humans (vol 581, pg 434, 2020)

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NATURE 2021年第7846期590卷 E53-E53页

作者： Karczewski, Konrad J. Francioli, Laurent C. Tiao, Grace Cummings, Beryl B. Alfoldi, Jessica Wang, Qingbo Collins, Ryan L. Laricchia, Kristen M. Ganna, Andrea Birnbaum, Daniel P. Gauthier, Laura D. Brand, Harrison Solomonson, Matthew Watts, Nicholas A. Rhodes, Daniel Singer-Berk, Moriel England, Eleina M. Seaby, Eleanor G. Kosmicki, Jack A. Walters, Raymond K. Tashman, Katherine Farjoun, Yossi Banks, Eric Poterba, Timothy Wang, Arcturus Seed, Cotton Whiffin, Nicola Chong, Jessica X. Samocha, Kaitlin E. Pierce-Hoffman, Emma Zappala, Zachary O'Donnell-Luria, Anne H. Minikel, Eric Vallabh Weisburd, Ben Lek, Monkol Ware, James S. Vittal, Christopher Armean, Irina M. Bergelson, Louis Cibulskis, Kristian Connolly, Kristen M. Covarrubias, Miguel Donnelly, Stacey Ferriera, Steven Gabriel, Stacey Gentry, Jeff Gupta, Namrata Jeandet, Thibault Kaplan, Diane Llanwarne, Christopher Munshi, Ruchi Novod, Sam Petrillo, Nikelle Roazen, David Ruano-Rubio, Valentin Saltzman, Andrea Schleicher, Molly Soto, Jose Tibbetts, Kathleen Tolonen, Charlotte Wade, Gordon Talkowski, Michael E. Aggregation, Genome Neale, Benjamin M. Daly, Mark J. MacArthur, Daniel G. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Program in Biological and Biomedical Sciences Harvard Medical School Boston MA USA Program in Bioinformatics and Integrative Genomics Harvard Medical School Boston MA USA Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Institute for Molecular Medicine Finland Helsinki Finland Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA National Heart & Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK Cardiovascular Research Centre Royal Brompton & Harefield Hospitals NHS Trust London UK Vertex Pharmaceuticals Inc Boston MA USA Division of Genetics and Genomics Boston Children’s Hospital Boston MA USA Department of Pediatrics Harvard Medical School Boston MA USA Broad Genomics Broad Institute of MIT and Harvard Cambridge MA USA Department of Neurology Harvard Medical School Boston MA USA Cardiac Arrhythmia Service and Cardiovascular Research Center Massachusetts General Hospital Boston MA USA Estonian Genome Center Institute of Genomics University of Tartu Tartu Estonia Data Sciences Platform Broad Institute of MIT and Harvard Cambridge MA USA Diabetes Unit Massachusetts General Hospital Boston MA USA Program in Metabolism Broad Institute of MIT and Harvard Cambridge MA USA Department of Medicine Harvard Medical School Boston MA USA Division of General Internal Medicine Massachusetts General Hospital Boston MA USA Department of Public Health Faculty of Medicine University of Helsinki Helsinki Finland Cardiovascular Disease Initiative and Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Genomics Diabetes and Endocrinology Lund University Lund Sweden Folkhälsan Institute of Genetics Folkhälsan Research C

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