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Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction (vol 53, pg 65, 2021)

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NATURE GENETICS 2021年第3期53卷 413-413页

作者： Conti, David V. Darst, Burcu F. Moss, Lilit C. Saunders, Edward J. Sheng, Xin Chou, Alisha Schumacher, Fredrick R. Al Olama, Ali Amin Benlloch, Sara Dadaev, Tokhir Brook, Mark N. Sahimi, Ali Hoffmann, Thomas J. Takahashi, Atushi Matsuda, Koichi Momozawa, Yukihide Fujita, Masashi Muir, Kenneth Lophatananon, Artitaya Wan, Peggy Le Marchand, Loic Wilkens, Lynne R. Stevens, Victoria L. Gapstur, Susan M. Carter, Brian D. Schleutker, Johanna Tammela, Teuvo L. J. Sipeky, Csilla Auvinen, Anssi Giles, Graham G. Southey, Melissa C. MacInnis, Robert J. Cybulski, Cezary Wokolorczyk, Dominika Lubinski, Jan Neal, David E. Donovan, Jenny L. Hamdy, Freddie C. Martin, Richard M. Nordestgaard, Borge G. Nielsen, Sune F. Weischer, Maren Bojesen, Stig E. Roder, Martin Andreas Iversen, Peter Batra, Jyotsna Chambers, Suzanne Moya, Leire Horvath, Lisa Clements, Judith A. Tilley, Wayne Risbridger, Gail P. Gronberg, Henrik Aly, Markus Szulkin, Robert Eklund, Martin Nordstrom, Tobias Pashayan, Nora Dunning, Alison M. Ghoussaini, Maya Travis, Ruth C. Key, Tim J. Riboli, Elio Park, Jong Y. Sellers, Thomas A. Lin, Hui-Yi Albanes, Demetrius Weinstein, Stephanie J. Mucci, Lorelei A. Giovannucci, Edward Lindstrom, Sara Kraft, Peter Hunter, David J. Penney, Kathryn L. Turman, Constance Tangen, Catherine M. Goodman, Phyllis J. Thompson, Ian M., Jr. Hamilton, Robert J. Fleshner, Neil E. Finelli, Antonio Parent, Marie-Elise Stanford, Janet L. Ostrander, Elaine A. Geybels, Milan S. Koutros, Stella Freeman, Laura E. Beane Stampfer, Meir Wolk, Alicja Hakansson, Niclas Andriole, Gerald L. Hoover, Robert N. Machiela, Mitchell J. Sorensen, Karina Dalsgaard Borre, Michael Blot, William J. Zheng, Wei Yeboah, Edward D. Mensah, James E. Lu, Yong-Jie Zhang, Hong-Wei Feng, Ninghan Mao, Xueying Wu, Yudong Zhao, Shan-Chao Sun, Zan Thibodeau, Stephen N. McDonnell, Shannon K. Schaid, Daniel J. West, Catharine M. L. Burnet, Neil Barnett, Gill Maier, Christiane Schnoeller, Thomas Luedeke, Manuel Kibel, Adam S. Drake, Bettina F. Cussenot, Olivier Cancel-Tassin, Gerald Center for Genetic Epidemiology Department of Preventive Medicine Keck School of Medicine University of Southern California/Norris Comprehensive Cancer Center Los Angeles CA USA The Institute of Cancer Research London UK Department of Population and Quantitative Health Sciences Case Western Reserve University Cleveland OH USA Seidman Cancer Center University Hospitals Cleveland OH USA Centre for Cancer Genetic Epidemiology Department of Public Health and Primary Care University of Cambridge Strangeways Research Laboratory Cambridge UK Stroke Research Group Department of Clinical Neurosciences University of Cambridge Cambridge UK Department of Epidemiology and Biostatistics University of California San Francisco CA USA Institute for Human Genetics University of California San Francisco CA USA Laboratory for Statistical Analysis RIKEN Center for Integrative Medical Sciences Yokohama Japan Department of Genomic Medicine National Cerebral and Cardiovascular Center Research Institute Suita Japan Laboratory of Clinical Genome Sequencing Department of Computational Biology and Medical Sciences Graduate School of Frontier Sciences The University of Tokyo Tokyo Japan Biobank Tokyo Japan Laboratory for Genotyping Development RIKEN Center of Integrative Medical Sciences Yokohama Japan Laboratory for Cancer Genomics RIKEN Center of Integrative Medical Sciences Yokohama Japan Division of Population Health Health Services Research and Primary Care School of Health Sciences Faculty of Biology Medicine and Health University of Manchester Manchester UK Warwick Medical School University of Warwick Coventry UK Epidemiology Program University of Hawaii Cancer Center Honolulu HI USA Behavioral and Epidemiology Research Group Research Program American Cancer Society Atlanta GA USA Institute of Biomedicine University of Turku Turku Finland Department of Medical Genetics Genomics Laboratory Division Turku University Hospital Turku Finland Department of Urolog

Prostate cancer is a highly heritable disease with large disparities in incidence rates across ancestry populations. We conducted a multiancestry meta-analysis of prostate cancer genome-wide association studies (107,247 cases and 127,006 controls) and identified 86 new genetic risk variants independently associated with prostate cancer risk, bringing the total to 269 known risk variants. The top genetic risk score (GRS) decile was associated with odds ratios that ranged from 5.06 (95% confidence interval (CI), 4.84-5.29) for men of European ancestry to 3.74 (95% CI, 3.36-4.17) for men of African ancestry. Men of African ancestry were estimated to have a mean GRS that was 2.18-times higher (95% CI, 2.14-2.22), and men of East Asian ancestry 0.73-times lower (95% CI, 0.71-0.76), than men of European ancestry. These findings support the role of germline variation contributing to population differences in prostate cancer risk, with the GRS offering an approach for personalized risk prediction.

关键词： Epidemiology Genome-wide association studies Personalized medicine Prostate cancer

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Derivatives (halogen, nitro and amino) of 8-hydroxyquinoline with highly potent antimicrobial and antioxidant activities

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Biochemistry and Biophysics Reports 2016年 6卷 135-141页

作者： Cherdtrakulkiat, Rungrot Boonpangrak, Somchai Sinthupoom, Nujarin Prachayasittikul, Supaluk Ruchirawat, Somsak Prachayasittikul, Virapong Department of Clinical Microbiology and Applied Technology Faculty of Medical Technology Mahidol University Bangkok 10700 Thailand Center for Innovation Development and Technology Transfer Faculty of Medical Technology Mahidol University Bangkok 10700 Thailand Center of Data Mining and Biomedical Informatics Faculty of Medical Technology Mahidol University Bangkok 10700 Thailand Laboratory of Medicinal Chemistry Chulabhorn Research Institute and Program in Chemical Biology Chulabhorn Graduate Institute Bangkok 10210 Thailand Center of Excellence on Environmental Health and Toxicology Commission on Higher Education (CHE) Ministry of Education Thailand

8-Hydroxyquinoline (8HQ) compounds have been reported to possess diverse bioactivities. In recent years, drug repositioning has gained considerable attention in drug discovery and development. Herein, 8HQ (1) and its derivatives (2-9) bearing various substituents (amino, nitro, cyano and halogen) were investigated for their antimicrobial against 27 microorganisms (agar dilution method) and antioxidant (DPPH method) activities. The parent 8HQ (1) exerted a highly potent antimicrobial activity against Gram-positive bacteria including diploid fungi and yeast with MIC values in the range of 3.44-13.78 μM. Moreover, the halogenated 8HQ, especially 7-bromo-8HQ (4) and clioquinol (6), displayed a high antigrowth activity against Gram-negative bacteria compared with the parent compound (1). Apparently, the derivatives with a relatively high safely index, e.g., nitroxoline (2), exhibited strong antibacterial activity against Aeromonas hydrophila (MIC=5.26 μM) and selectively inhibited the growth of P. aeruginosa with the MIC value of 84.14 μM;cloxyquin (3) showed a strong activity against L. monocytogenes and P. shigelloides with MIC values of 5.57 and 11.14 μM, respectively. Most compounds displayed an antioxidant activity. Specifically, 5-amino-8HQ (8) was shown to be the most potent antioxidant (IC₅₀=8.70 μM) compared with the positive control (α-tocopherol) with IC₅₀ of 13.47 μM. The findings reveal that 8HQ derivatives are potential candidates to be further developed as antimicrobial and antioxidant agents. © 2016 The Authors.

关键词： 8-Hydroxyquinoline Antimicrobial Antioxidant Clioquinol Cloxyquin Nitroxoline

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Correction: White matter diffusion estimates in obsessive-compulsive disorder across 1653 individuals: machine learning findings from the ENIGMA OCD Working Group

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Molecular psychiatry 2024年第4期29卷 1216页

作者： Bo-Gyeom Kim Gakyung Kim Yoshinari Abe Pino Alonso Stephanie Ameis Alan Anticevic Paul D Arnold Srinivas Balachander Nerisa Banaj Nuria Bargalló Marcelo C Batistuzzo Francesco Benedetti Sara Bertolín Jan Carl Beucke Irene Bollettini Silvia Brem Brian P Brennan Jan K Buitelaar Rosa Calvo Miguel Castelo-Branco Yuqi Cheng Ritu Bhusal Chhatkuli Valentina Ciullo Ana Coelho Beatriz Couto Sara Dallaspezia Benjamin A Ely Sónia Ferreira Martine Fontaine Jean-Paul Fouche Rachael Grazioplene Patricia Gruner Kristen Hagen Bjarne Hansen Gregory L Hanna Yoshiyuki Hirano Marcelo Q Höxter Morgan Hough Hao Hu Chaim Huyser Toshikazu Ikuta Neda Jahanshad Anthony James Fern Jaspers-Fayer Selina Kasprzak Norbert Kathmann Christian Kaufmann Minah Kim Kathrin Koch Gerd Kvale Jun Soo Kwon Luisa Lazaro Junhee Lee Christine Lochner Jin Lu Daniela Rodriguez Manrique Ignacio Martínez-Zalacaín Yoshitada Masuda Koji Matsumoto Maria Paula Maziero Jose M Menchón Luciano Minuzzi Pedro Silva Moreira Pedro Morgado Janardhanan C Narayanaswamy Jin Narumoto Ana E Ortiz Junko Ota Jose C Pariente Chris Perriello Maria Picó-Pérez Christopher Pittenger Sara Poletti Eva Real Y C Janardhan Reddy Daan van Rooij Yuki Sakai João Ricardo Sato Cinto Segalas Roseli G Shavitt Zonglin Shen Eiji Shimizu Venkataram Shivakumar Noam Soreni Carles Soriano-Mas Nuno Sousa Mafalda Machado Sousa Gianfranco Spalletta Emily R Stern S Evelyn Stewart Philip R Szeszko Rajat Thomas Sophia I Thomopoulos Daniela Vecchio Ganesan Venkatasubramanian Chris Vriend Susanne Walitza Zhen Wang Anri Watanabe Lidewij Wolters Jian Xu Kei Yamada Je-Yeon Yun Mojtaba Zarei Qing Zhao Xi Zhu Paul M Thompson Willem B Bruin Guido A van Wingen Federica Piras Fabrizio Piras Dan J Stein Odile A van den Heuvel Helen Blair Simpson Rachel Marsh Jiook Cha Department of Psychology College of Social Sciences Seoul National University Seoul Republic of Korea. Department of Brain and Cognitive Sciences College of Natural Sciences Seoul National University Seoul Republic of Korea. Graduate School of Medical Science Kyoto Prefectural University of Medicine Department of Psychiatry Kyoto City Japan. Bellvitge Biomedical Research Insitute-IDIBELL Bellvitge University Hospital Barcelona Spain. CIBER of Mental Health (CIBERSAM) Carlos III Health Institute Madrid Spain. Department of Clinical Sciences University of Barcelona Barcelona Spain. The Margaret and Wallace McCain Centre for Child Youth & Family Mental Health and Campbell Family Mental Health Research Institute Centre for Addiction and Mental Health Toronto ON Canada. Department of Psychiatry University of Toronto Toronto ON Canada. Program in Neurosciences and Mental Health The Hospital for Sick Children Toronto ON Canada. Department of Psychiatry Yale University School of Medicine New Haven CT 06510 USA. The Mathison Centre for Mental Health Research & Education Hotchkiss Brain Institute Cumming School of Medicine University of Calgary Calgary AB Canada. Departments of Psychiatry and Medical Genetics Cumming School of Medicine University of Calgary Calgary AB Canada. OCD clinic Department of Psychiatry National Institute of Mental Health And Neurosciences (NIMHANS) Bangalore India. Laboratory of Neuropsychiatry Department of Clinical and Neuroscience and Neurorehabilitation IRCCS Santa Lucia Foundation Rome Italy. Center of Image Diagnostic Hospital Clínic de Barcelona Barcelona Spain. Magnetic Resonance Image Core Facility Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) Barcelona Spain. Departamento e Instituto de Psiquiatria do Hospital das Clinicas IPQ HCFMUSP Faculdade de Medicina Universidade de Sao Paulo Sao Paulo SP Brazil. Department of Methods and Techniques in Psychology Pontifical Catholic University São Paulo SP

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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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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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Author Correction: The power of genetic diversity in genome-wide association studies of lipids

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Nature 2023年第7965期618卷 E19-E20页

作者： Sarah E Graham Shoa L Clarke Kuan-Han H Wu Stavroula Kanoni Greg J M Zajac Shweta Ramdas Ida Surakka Ioanna Ntalla Sailaja Vedantam Thomas W Winkler Adam E Locke Eirini Marouli Mi Yeong Hwang Sohee Han Akira Narita Ananyo Choudhury Amy R Bentley Kenneth Ekoru Anurag Verma Bhavi Trivedi Hilary C Martin Karen A Hunt Qin Hui Derek Klarin Xiang Zhu Gudmar Thorleifsson Anna Helgadottir Daniel F Gudbjartsson Hilma Holm Isleifur Olafsson Masato Akiyama Saori Sakaue Chikashi Terao Masahiro Kanai Wei Zhou Ben M Brumpton Humaira Rasheed Sanni E Ruotsalainen Aki S Havulinna Yogasudha Veturi QiPing Feng Elisabeth A Rosenthal Todd Lingren Jennifer Allen Pacheco Sarah A Pendergrass Jeffrey Haessler Franco Giulianini Yuki Bradford Jason E Miller Archie Campbell Kuang Lin Iona Y Millwood George Hindy Asif Rasheed Jessica D Faul Wei Zhao David R Weir Constance Turman Hongyan Huang Mariaelisa Graff Anubha Mahajan Michael R Brown Weihua Zhang Ketian Yu Ellen M Schmidt Anita Pandit Stefan Gustafsson Xianyong Yin Jian'an Luan Jing-Hua Zhao Fumihiko Matsuda Hye-Mi Jang Kyungheon Yoon Carolina Medina-Gomez Achilleas Pitsillides Jouke Jan Hottenga Gonneke Willemsen Andrew R Wood Yingji Ji Zishan Gao Simon Haworth Ruth E Mitchell Jin Fang Chai Mette Aadahl Jie Yao Ani Manichaikul Helen R Warren Julia Ramirez Jette Bork-Jensen Line L Kårhus Anuj Goel Maria Sabater-Lleal Raymond Noordam Carlo Sidore Edoardo Fiorillo Aaron F McDaid Pedro Marques-Vidal Matthias Wielscher Stella Trompet Naveed Sattar Line T Møllehave Betina H Thuesen Matthias Munz Lingyao Zeng Jianfeng Huang Bin Yang Alaitz Poveda Azra Kurbasic Claudia Lamina Lukas Forer Markus Scholz Tessel E Galesloot Jonathan P Bradfield E Warwick Daw Joseph M Zmuda Jonathan S Mitchell Christian Fuchsberger Henry Christensen Jennifer A Brody Mary F Feitosa Mary K Wojczynski Michael Preuss Massimo Mangino Paraskevi Christofidou Niek Verweij Jan W Benjamins Jorgen Engmann Rachel L Kember Roderick C Slieker Ken Sin Lo Nuno R Zilhao Phuong Le Marcus E Kleber Graciela E Delgado Shaofeng Huo Dai Department of Internal Medicine Division of Cardiology University of Michigan Ann Arbor MI USA. VA Palo Alto Health Care System Palo Alto CA USA. Department of Medicine Division of Cardiovascular Medicine Stanford University School of Medicine Stanford CA USA. Department of Computational Medicine and Bioinformatics University of Michigan Ann Arbor MI USA. William Harvey Research Institute Barts and the London School of Medicine and Dentistry Queen Mary University of London London UK. Department of Biostatistics and Center for Statistics Genetics University of Michigan Ann Arbor MI USA. Department of Genetics Perelman School of Medicine University of Pennsylvania Philadelphia PA USA. Clinical Pharmacology William Harvey Research Institute Barts and The London School of Medicine and Dentistry Queen Mary University of London London UK. Endocrinology Boston Children's Hospital Boston MA USA. Medical and Population Genetics Broad Institute Cambridge MA USA. Department of Genetic Epidemiology University of Regensburg Regensburg Germany. McDonnell Genome Institute and Department of Medicine Washington University St Louis MO USA. Department of Precision Medicine Division of Genome Science National Institute of Health Cheongju-si South Korea. Tohoku Medical Megabank Organization Tohoku University Sendai Japan. Sydney Brenner Institute for Molecular Bioscience Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa. Center for Research on Genomics and Global Health National Human Genome Research Institute National Institutes of Health Bethesda MD USA. Blizard Institute Barts and the London School of Medicine and Dentistry Queen Mary University of London London UK. Wellcome Sanger Institute Hinxton UK. Department of Epidemiology Emory University Rollins School of Public Health Atlanta GA USA. Atlanta VA Health Care System Decatur GA USA. Malcolm Randall VA Medical Center Gainesville FL USA. Division of Vascular Sur

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Transcript expression-aware annotation improves rare variant interpretation (vol 581, pg 452, 2020)

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NATURE 2021年第7846期590卷 E54-E54页

作者： Cummings, Beryl B. Karczewski, Konrad J. Kosmicki, Jack A. Seaby, Eleanor G. Watts, Nicholas A. Singer-Berk, Moriel Mudge, Jonathan M. Karjalainen, Juha Satterstrom, F. Kyle O'Donnell-Luria, Anne H. Poterba, Timothy Seed, Cotton Solomonson, Matthew Alfoldi, Jessica Daly, Mark J. MacArthur, Daniel G. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Analytical 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 Genomic Informatics Group University Hospital Southampton Southampton UK Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA Division of Genetics and Genomics Boston Children’s Hospital Boston MA USA Department of Pediatrics Harvard Medical School Boston MA USA European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Genome Campus Hinxton Cambridge UK Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Broad Genomics 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 Cardiac Arrhythmia Service and Cardiovascular Research Center Massachusetts General Hospital Boston MA USA Estonian Genome Center Institute of Genomics University of Tartu Tartu Estonia Department of Medicine Harvard Medical School Boston MA USA Cardiac Arrhythmia Service Massachusetts General Hospital Boston MA USA Division of General Internal Medicine Massachusetts General Hospital Boston MA USA Institute for Molecular Medicine FIMM University of Helsinki Helsinki Finland Department of Public Health Faculty of Medicine University of Helsinki Helsinki Finland Department of Genetics Harvard Medical School Boston MA USA Data Sciences Platform Broad Institute of MIT and Harvard Cambridge MA USA Genomics Platform Broad Institute of MIT and Harvard Cambridge MA USA Wellcome Sanger Institute Hinxton Cambridgeshire UK Unidad de Investigaci

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Detection of RS Oph with LST-1 and modelling of its HE/VHE gamma-ray emission

arXiv

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arXiv 2025年

作者： Abe, K. Abe, S. Abhishek, A. Acero, F. Aguasca-Cabot, A. Agudo, I. Alispach, C. Crespo, N. Alvarez Ambrosino, D. Antonelli, L.A. Aramo, C. Arbet-Engels, A. Arcaro, C. Asano, K. Aubert, P. Baktash, A. Balbo, M. Bamba, A. Larriva, A. Baquero de Almeida, U. Barres Barrio, J.A. Jiménez, L. Barrios Batkovic, I. Baxter, J. González, J. Becerra Bernardini, E. Bernete, J. Berti, A. Bezshyiko, I. Bhattacharjee, P. Bigongiari, C. Bissaldi, E. Blanch, O. Bonnoli, G. Bordas, P. Borkowski, G. Brunelli, G. Bulgarelli, A. Bunse, M. Burelli, I. Burmistrov, L. Buscemi, M. Cardillo, M. Caroff, S. Carosi, A. Carrasco, M.S. Cassol, F. Castrejón, N. Cerasole, D. Ceribella, G. Chai, Y. Cheng, K. Chiavassa, A. Chikawa, M. Chon, G. Chytka, L. Cicciari, G.M. Cifuentes, A. Contreras, J.L. Cortina, J. Costantini, H. Da Vela, P. Dalchenko, M. Dazzi, F. De Angelis, A. de Bony de Lavergne, M. De Lotto, B. de Menezes, R. Del Burgo, R. Del Peral, L. Delgado, C. Delgado Mengual, J. della Volpe, D. Dellaiera, M. Di Piano, A. Di Pierro, F. Di Tria, R. Di Venere, L. Díaz, C. Dominik, R.M. Dominis Prester, D. Donini, A. Dore, D. Dorner, D. Doro, M. Eisenberger, L. Elsässer, D. Emery, G. Escudero, J. Fallah Ramazani, V. Ferrarotto, F. Fiasson, A. Foffano, L. Freixas Coromina, L. Fröse, S. Fukazawa, Y. Garcia López, R. Gasbarra, C. Gasparrini, D. Geyer, D. Giesbrecht Paiva, J. Giglietto, N. Giordano, F. Gliwny, P. Godinovic, N. Grau, R. Green, D. Green, J. Gunji, S. Günther, P. Hackfeld, J. Hadasch, D. Hahn, A. Hassan, T. Hayashi, K. Heckmann, L. Heller, M. Herrera Llorente, J. Hirotani, K. Hoffmann, D. Horns, D. Houles, J. Hrabovsky, M. Hrupec, D. Hui, D. Iarlori, M. Imazawa, R. Inada, T. Inome, Y. Inoue, S. Ioka, K. Iori, M. Iuliano, A. Jahanvi, J. Jimenez Martinez, I. Jimenez Quiles, J. Jurysek, J. Kagaya, M. Kalashev, O. Karas, V. Katagiri, H. Kataoka, J. Kerszberg, D. Kobayashi, Y. Kohri, K. Kong, A. Kubo, H. Kushida, J. Lacave, B. Lainez, M. Lamanna, G. Lamastra, A. Lemoigne, L. Department of Physics Tokai University 4-1-1 Kita-Kaname Kanagawa Hiratsuka259-1292 Japan Institute for Cosmic Ray Research University of Tokyo 5-1-5 Kashiwa-no-ha Chiba Kashiwa277-8582 Japan Sezione di Fisica Via Roma 56 Siena53100 Italy Université Paris-Saclay Université Paris Cité CEA CNRS AIM Gif-sur-YvetteF-91191 Cedex France FSLAC IRL 2009 CNRS/IAC Tenerife La Laguna Spain Departament de Física Quàntica i Astrofísica Institut de Ciències del Cosmos Universitat de Barcelona IEEC-UB Martí i Franquès 1 Barcelona08028 Spain Instituto de Astrofísica de Andalucía-CSIC Glorieta de la Astronomía s/n Granada18008 Spain Department of Astronomy University of Geneva Chemin d’Ecogia 16 VersoixCH-1290 Switzerland IPARCOS-UCM Instituto de Física de Partículas y del Cosmos EMFTEL Department Universidad Complutense de Madrid Ciudad Universitaria Plaza de Ciencias 1 Madrid28040 Spain INFN Sezione di Napoli Via Cintia ed. G Napoli80126 Italy INAF - Osservatorio Astronomico di Roma Via di Frascati 33 Monteporzio Catone00040 Italy Max-Planck-Institut für Physik Föhringer Ring 6 München80805 Germany INFN Sezione di Padova Università degli Studi di Padova Via Marzolo 8 Padova35131 Italy Univ. Savoie Mont Blanc CNRS Laboratoire d’Annecy de Physique des Particules - IN2P3 Annecy74000 France Universität Hamburg Institut für Experimentalphysik Luruper Chaussee 149 Hamburg22761 Germany Graduate School of Science University of Tokyo 7-3-1 Hongo Bunkyo-ku Tokyo113-0033 Japan Faculty of Science and Technology Universidad del Azuay Cuenca Ecuador Centro Brasileiro de Pesquisas Físicas Rua Xavier Sigaud 150 RJ Rio de Janeiro22290-180 Brazil Instituto de Astrofísica de Canarias Departamento de Astrofísica Universidad de La Laguna C. Vía Láctea s/n Santa Cruz de Tenerife La Laguna38205 Spain CIEMAT Avda. Complutense 40 Madrid28040 Spain University of Geneva Département de physique nucléaire et corpusculaire 24 Quai Ernest Ansernet

Context. The recurrent nova RS Ophiuchi (RS Oph) underwent a thermonuclear eruption in August 2021. In this event, RS Oph was detected by the High Energy Stereoscopic System (H.E.S.S.), the Major Atmospheric Gamma Imaging Cherenkov (MAGIC), and the first Large-Sized Telescope (LST-1) of the future Cherenkov Telescope Array Observatory (CTAO) at very-high gamma-ray energies above 100 GeV. This means that novae are a new class of very-high-energy (VHE) gamma-ray emitters. Aims. We report the analysis of the RS Oph observations with LST-1. We constrain the particle population that causes the observed emission in hadronic and leptonic scenarios. Additionally, we study the prospects of detecting further novae using LST-1 and the upcoming LST array of CTAO-North. Methods. We conducted target-of-opportunity observations with LST-1 from the first day of this nova event. The data were analysed in the framework of cta-lstchain and Gammapy, the official CTAO-LST reconstruction and analysis packages. One-zone hadronic and leptonic models were considered to model the gamma-ray emission of RS Oph using the spectral information from Fermi-LAT and LST-1, together with public data from the MAGIC and H.E.S.S. telescopes. Results. RS Oph was detected at 6.6σ with LST-1 in the first 6.35 hours of observations following the eruption. The hadronic scenario is preferred over the leptonic scenario considering a proton energy spectrum with a power-law model with an exponential cutoff whose position increases from (0.26 ± 0.08) TeV on day 1 up to (1.6 ± 0.6) TeV on day 4 after the eruption. The deep sensitivity and low energy threshold of the LST-1/LST array will allow us to detect faint novae and increase their discovery rate. © 2025, CC BY.

关键词： Gamma radiography

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Very high-energy gamma-ray detection and long-term multiwavelength view of the flaring blazar B2 1811+31

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Astronomy and Astrophysics 2025年 697卷

作者： Abe, K. Abe, S. Abhir, J. Abhishek, A. Acciari, V.A. Aguasca-Cabot, A. Agudo, I. Aniello, T. Ansoldi, S. Antonelli, L.A. Engels, A. Arbet Arcaro, C. Asano, K. Babić, A. de Almeida, U. Barres Barrio, J.A. Barrios-Jiménez, L. Batković, I. Baxter, J. González, J. Becerra Bednarek, W. Bernardini, E. Bernete, J. Berti, A. Besenrieder, J. Bigongiari, C. Biland, A. Blanch, O. Bonnoli, G. Bošnjak, Ž. Bronzini, E. Burelli, I. Campoy-Ordaz, A. Carosi, A. Carosi, R. Carretero-Castrillo, M. Castro-Tirado, A.J. Cerasole, D. Ceribella, G. Chilingarian, A. Cifuentes, A. Colombo, E. Contreras, J.L. Cortina, J. Covino, S. D’Ammando, F. D’Amico, G. Vela, P. Da Dazzi, F. De Angelis, A. De Lotto, B. de Menezes, R. Delfino, M. Delgado, J. Mendez, C. Delgado Pierro, F. Di Tria, R. Di Venere, L. Di Dinesh, A. Prester, D. Dominis Donini, A. Dorner, D. Doro, M. Eisenberger, L. Elsaesser, D. Escudero, J. Fariña, L. Foffano, L. Font, L. Fröse, S. Fukazawa, Y. López, R.J. García Garczarczyk, M. Gasparyan, S. Gaug, M. Paiva, J.G. Giesbrecht Giglietto, N. Giordano, F. Gliwny, P. Gradetzke, T. Grau, R. Green, D. Green, J.G. Günther, P. Hadasch, D. Hahn, A. Hassan, T. Heckmann, L. Llorente, J. Herrera Hrupec, D. Imazawa, R. Israyelyan, D. Itokawa, T. Martínez, I. Jiménez Quiles, J. Jiménez Jormanainen, J. Kankkunen, S. Kayanoki, T. Kerszberg, D. Khachatryan, M. Kluge, G.W. Kobayashi, Y. Konrad, J. Kouch, P.M. Kubo, H. Kushida, J. Láinez, M. Lamastra, A. Lindfors, E. Lombardi, S. Longo, F. López-Coto, R. Japanese MAGIC Group Department of Physics Tokai University Kanagawa Hiratsuka259-1292 Japan The University of Tokyo Chiba Kashiwa277-8582 Japan ETH Zürich ZürichCH-8093 Switzerland Università di Siena INFN Pisa SienaI-53100 Italy Bellaterra BarcelonaE-08193 Spain Universitat de Barcelona ICCUB IEEC-UB BarcelonaE-08028 Spain Instituto de Astrofísica de Andalucía-CSIC Glorieta de la Astronomía s/n Granada18008 Spain RomeI-00136 Italy Università di Udine INFN Trieste UdineI-33100 Italy Max-Planck-Institut für Physik GarchingD-85748 Germany Università di Padova INFN PadovaI-35131 Italy Zagreb10000 Croatia URCA RJ Rio de Janeiro22290-180 Brazil IPARCOS Institute EMFTEL Department Universidad Complutense de Madrid MadridE-28040 Spain Instituto de Astrofísica de Canarias and Dpto. de Astrofísica Universidad de La Laguna Tenerife La LagunaE-38200 Spain University of Lodz Faculty of Physics and Applied Informatics Department of Astrophysics Lodz90-236 Poland Centro de Investigaciones Energéticas Medioambientales y Tecnológicas MadridE-28040 Spain Departament de Física CERES-IEEC Universitat Autònoma de Barcelona BellaterraE-08193 Spain Università di Pisa INFN Pisa PisaI-56126 Italy INFN MAGIC Group INFN Sezione di Bari Dipartimento Interateneo di Fisica dell’Università e del Politecnico di Bari BariI-70125 Italy Armenian MAGIC Group A. Alikhanyan National Science Laboratory Yerevan0036 Armenia Department for Physics and Technology University of Bergen Norway INFN MAGIC Group INFN Sezione di Torino Università degli Studi di Torino TorinoI-10125 Italy Croatian MAGIC Group University of Rijeka Faculty of Physics Rijeka51000 Croatia Universität Würzburg WürzburgD-97074 Germany Technische Universität Dortmund DortmundD-44221 Germany Japanese MAGIC Group: Physics Program Graduate School of Advanced Science and Engineering Hiroshima University Hiroshima739-8526 Japan ZeuthenD-15738 Germany Armenian MAGIC Gro

Context. Among the blazars whose emission has been detected up to very high-energy (VHE;100 GeV 14 δD cm on the size of the emission region responsible for the γ-ray flare, with δD being the relativistic Doppler factor of the region. During the 2020 high state, the average spectrum became harder in the HE γ-ray band compared to the low states. A similar behavior has been observed in X-rays. Conversely, during different activity periods, we find harder-when-brighter trends in X-rays and a hint of softer-when-brighter trends at HE γ rays. A long-term HE γ-ray and optical correlation indicates that the same emission regions dominate the radiative output in both ranges, whereas the evolution at 15 GHz shows no correlation with the fluxes at higher frequencies. We test one-zone and two-zone synchrotron-self-Compton models for describing the broadband spectral energy distribution during the 2020 flaring state and investigate the self-consistency of the proposed scenario. c The Authors 2025.

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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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