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arXiv 2018年

作者： Vu, Quoc Dang Graham, Simon To, Minh Nguyen Nhat Shaban, Muhammad Qaiser, Talha Koohbanani, Navid Alemi Khurram, Syed Ali Kurc, Tahsin Farahani, Keyvan Zhao, Tianhao Gupta, Rajarsi Kwak, Jin Tae Rajpoot, Nasir Saltz, Joel Department of Computer Science Engineering Sejong University Seoul Korea Republic of Department of Computer Science University of Warwick University of Sheffield Sheffield United Kingdom Department of Biomedical Informatics Stony Brook University Stony Brook United States Cancer Imaging Program National Cancer Institute National Institutes of Health United States Department of Pathology Stony Brook University Stony Brook United States

High-resolution microscopy images of tissue specimens provide detailed information about the morphology of normal and diseased tissue. Image analysis of tissue morphology can help cancer researchers develop a better understanding of cancer biology. Segmentation of nuclei and classification of tissue images are two common tasks in tissue image analysis. Development of accurate and efficient algorithms for these tasks is a challenging problem because of the complexity of tissue morphology and tumor heterogeneity. In this paper we present two computer algorithms;one designed for segmentation of nuclei and the other for classification of whole slide tissue images. The segmentation algorithm implements a multiscale deep residual aggregation network to accurately segment nuclear material and then separate clumped nuclei into individual nuclei. The classification algorithm initially carries out patch-level classification via a deep learning method, then patch-level statistical and morphological features are used as input to a random forest regression model for whole slide image classification. The segmentation and classification algorithms were evaluated in the MICCAI 2017 Digital Pathology challenge. The segmentation algorithm achieved an accuracy score of 0.78. The classification algorithm achieved an accuracy score of 0.81. These scores were the highest in the challenge. Copyright © 2018, The Authors. All rights reserved.

关键词： Image analysis

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The recency and geographical origins of the bat viruses ancestral to SARS-CoV and SARS-CoV-2

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Cell 2025年

作者： Pekar, Jonathan E. Lytras, Spyros Ghafari, Mahan Magee, Andrew F. Parker, Edyth Wang, Yu Ji, Xiang Havens, Jennifer L. Katzourakis, Aris Vasylyeva, Tetyana I. Suchard, Marc A. Hughes, Alice C. Hughes, Joseph Rambaut, Andrew Robertson, David L. Dellicour, Simon Worobey, Michael Wertheim, Joel O. Lemey, Philippe Institute of Ecology and Evolution University of Edinburgh Edinburgh United Kingdom Bioinformatics and Systems Biology Graduate Program University of California San Diego La Jolla 92093 CA United States Department of Biomedical Informatics University of California San Diego La Jolla 92093 CA United States Department of Medicine University of California San Diego La Jolla 92093 CA United States Division of Systems Virology Department of Microbiology and Immunology The Institute of Medical Science The University of Tokyo Tokyo Japan Medical Research Council University of Glasgow Centre for Virus Research Glasgow United Kingdom Department of Biology University of Oxford Oxford United Kingdom Department of Human Genetics David Geffen School of Medicine University of California Los Angeles Los Angeles 90095 CA United States Department of Immunology and Microbiology The Scripps Research Institute La Jolla 92037 CA United States Institute of Genomics and Global Health Redeemer's University Osun State Ede Nigeria Department of Computer Science and Engineering University of California San Diego La Jolla 92093 CA United States Department of Mathematics School of Science and Engineering Tulane University New Orleans LA United States Department of Population Health and Disease Prevention University of California Irvine Irvine 92617 CA United States Department of Biostatistics Fielding School of Public Health University of California Los Angeles Los Angeles 90095 CA United States Department of Computational Medicine David Geffen School of Medicine University of California Los Angeles Los Angeles 90095 CA United States School of Biological Sciences University of Hong Kong Hong Kong Hong Kong China Biodiversity Green Development Foundation Beijing China Spatial Epidemiology Lab (SpELL) Université Libre de Bruxelles CP160/12 50 av. FD Roosevelt Bruxelles 1050 Belgium Department of Microbiology Immunology and Transplantation Rega Institute

The emergence of SARS-CoV in 2002 and SARS-CoV-2 in 2019 led to increased sampling of sarbecoviruses circulating in horseshoe bats. Employing phylogenetic inference while accounting for recombination of bat sarbecoviruses, we find that the closest-inferred bat virus ancestors of SARS-CoV and SARS-CoV-2 existed less than a decade prior to their emergence in humans. Phylogeographic analyses show bat sarbecoviruses traveled at rates approximating their horseshoe bat hosts and circulated in Asia for millennia. We find that the direct ancestors of SARS-CoV and SARS-CoV-2 are unlikely to have reached their respective sites of emergence via dispersal in the bat reservoir alone, supporting interactions with intermediate hosts through wildlife trade playing a role in zoonotic spillover. These results can guide future sampling efforts and demonstrate that viral genomic regions extremely closely related to SARS-CoV and SARS-CoV-2 were circulating in horseshoe bats, confirming their importance as the reservoir species for SARS viruses. © 2025 The Authors

关键词： molecular epidemiology phylogeography sarbecoviruses virus evolution

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FinnGen provides genetic insights from a well-phenotyped isolated population (vol 613, pg 508, 2023)

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NATURE 2023年第7952期615卷 E19-E19页

作者： Kurki, Mitja I. Karjalainen, Juha Palta, Priit Sipila, Timo P. Kristiansson, Kati Donner, Kati M. Reeve, Mary P. Laivuori, Hannele Aavikko, Mervi Kaunisto, Mari A. Loukola, Anu Lahtela, Elisa Mattsson, Hannele Laiho, Paivi Parolo, Pietro Della Briotta Lehisto, Arto A. Kanai, Masahiro Mars, Nina Ramo, Joel Kiiskinen, Tuomo Heyne, Henrike O. Veerapen, Kumar Rueger, Sina Lemmela, Susanna Zhou, Wei Ruotsalainen, Sanni Parn, Kalle Hiekkalinna, Tero Koskelainen, Sami Paajanen, Teemu Llorens, Vincent Gracia-Tabuenca, Javier Siirtola, Harri Reis, Kadri Elnahas, Abdelrahman G. Sun, Benjamin Foley, Christopher N. Aalto-Setala, Katriina Alasoo, Kaur Arvas, Mikko Auro, Kirsi Biswas, Shameek Bizaki-Vallaskangas, Argyro Carpen, Olli Chen, Chia-Yen Dada, Oluwaseun A. Ding, Zhihao Ehm, Margaret G. Eklund, Kari Farkkila, Martti Finucane, Hilary Ganna, Andrea Ghazal, Awaisa Graham, Robert R. Green, Eric M. Hakanen, Antti Hautalahti, Marco Hedman, Asa K. Hiltunen, Mikko Hinttala, Reetta Hovatta, Iiris Hu, Xinli Huertas-Vazquez, Adriana Huilaja, Laura Hunkapiller, Julie Jacob, Howard Jensen, Jan-Nygaard Joensuu, Heikki John, Sally Julkunen, Valtteri Jung, Marc Junttila, Juhani Kaarniranta, Kai Kahonen, Mika Kajanne, Risto Kallio, Lila Kalviainen, Reetta Kaprio, Jaakko Kerimov, Nurlan Kettunen, Johannes Kilpelainen, Elina Kilpi, Terhi Klinger, Katherine Kosma, Veli-Matti Kuopio, Teijo Kurra, Venla Laisk, Triin Laukkanen, Jari Lawless, Nathan Liu, Aoxing Longerich, Simonne Magi, Reedik Makela, Johanna Makitie, Antti Malarstig, Anders Mannermaa, Arto Maranville, Joseph Matakidou, Athena Meretoja, Tuomo Mozaffari, Sahar V. Niemi, Mari E. K. Niemi, Marianna Niiranen, Teemu O'Donnell, Christopher J. Obeidat, Ma'En Okafo, George Ollila, Hanna M. Palomaki, Antti Palotie, Tuula Partanen, Jukka Paul, Dirk S. Pelkonen, Margit Pendergrass, Rion K. Petrovski, Slave Pitkaranta, Anne Platt, Adam Pulford, David Punkka, Eero Pussinen, Pirkko Raghavan, Neha Rahimov, Fedik Rajpal, Deepak Renaud, Nicole A. Riley-Gillis, Bridget Rodosthenous, Rodostheni Institute for Molecular Medicine Finland (FIMM) Helsinki Institute of Life Science (HiLIFE) University of Helsinki Helsinki Finland Program in Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA Stanley Center for Psychiatric Research Broad Institute of Harvard and MIT Cambridge MA USA Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Estonian Genome Centre Institute of Genomics University of Tartu Tartu Estonia Medical and Clinical Genetics University of Helsinki and Helsinki University Hospital Helsinki Finland Department of Obstetrics and Gynecology Tampere University Hospital Tampere Finland Faculty of Medicine and Health Technology Center for Child Adolescent and Maternal Health University of Tampere Tampere Finland Department of Biomedical Informatics Harvard Medical School Boston MA USA Digital Health Center Hasso Plattner Institute for Digital Engineering University of Potsdam Potsdam Potsdam Germany Hasso Plattner Institute for Digital Health at Mount Sinai Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York NY USA Finnish Institute for Health and Welfare (THL) Helsinki Finland Department of Public Health University of Helsinki Helsinki Finland Anesthesia Critical Care and Pain Medicine Massachusetts General Hospital Boston MA USA Abdominal Center Endocrinology Helsinki University Hospital Helsinki Finland Folkhalsan Research Center Helsinki Finland Research Program of Clinical and Molecular Metabolism University of Helsinki Helsinki Finland Biocenter Oulu University of Oulu Oulu Finland Computational Medicine Center for Life Course Health Research Faculty of Medicine University of Oulu Oulu Finland Turku University Hospital and University of Turku Turku Finland University of Turku Turku Finland Helsinki Biobank University of Helsinki and Hospital District of Helsinki and Uusimaa Helsinki Finland TAUCHI Research Center

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Patterns of somatic structural variation in human cancer genomes (vol 578, pg 112, 2020)

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NATURE 2023年第7948期614卷 E38-E38页

作者： Li, Yilong Roberts, Nicola D. Wala, Jeremiah A. Shapira, Ofer Schumacher, Steven E. Kumar, Kiran Khurana, Ekta Waszak, Sebastian Korbel, Jan O. Haber, James E. Imielinski, Marcin Weischenfeldt, Joachim Beroukhim, Rameen Campbell, Peter J. Cancer Genome Project Wellcome Trust Sanger Institute Hinxton UK Totient Inc Cambridge MA USA Wellcome Sanger Institute Wellcome Genome Campus Hinxton UK Department of Haematology University of Cambridge Cambridge UK Cambridge University Hospitals NHS Foundation Trust Cambridge UK Korea Advanced Institute of Science and Technology Daejeon South Korea Department of Zoology Genetics and Physical Anthropology University of Santiago de Compostela Santiago de Compostela Spain Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS) University of Santiago de Compostela Santiago de Compostela Spain The Biomedical Research Centre (CINBIO) University of Vigo Vigo Spain Centre for Research in Molecular Medicine and Chronic Diseases (CiMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain Department of Zoology Genetics and Physical Anthropology (CiMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain The Biomedical Research Centre (CINBIO) Universidade de Vigo Vigo Spain The Broad Institute of Harvard and MIT Cambridge MA USA Bioinformatics and Integrative Genomics Harvard University Cambridge MA USA Department of Cancer Biology Dana-Farber Cancer Institute Boston MA USA Broad Institute of MIT and Harvard Cambridge MA USA Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA Harvard Medical School Boston MA USA Massachusetts General Hospital Center for Cancer Research Charlestown MA USA Dana-Farber Cancer Institute Boston MA USA Department of Biostatistics and Computational Biology Dana-Farber Cancer Institute and Harvard Medical School Boston MA USA Weill Cornell Medical College New York NY USA Department of Physiology and Biophysics Weill Cornell Medicine New York NY USA Institute for Computational Biomedicine Weill Cornell Medicine New York NY USA Controlled Department and Institution New York NY USA Englander Institute for Precision Medicine Weill Cornell Medicine Ne

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Genomic basis for RNA alterations in cancer (vol 578, pg 129, 2020)

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NATURE 2023年第7948期614卷 E37-E37页

作者： Calabrese, Claudia Davidson, Natalie R. Demircioglu, Deniz Fonseca, Nuno A. He, Yao Lehmann, Kjong-Van Liu, Fenglin Shiraishi, Yuichi Soulette, Cameron M. Urban, Lara Greger, Liliana Li, Siliang Liu, Dongbing Perry, Marc D. Xiang, Qian Zhang, Fan Zhang, Junjun Bailey, Peter Erkek, Serap Hoadley, Katherine A. Hou, Yong Huska, Matthew R. Kilpinen, Helena Korbel, Jan O. Marin, Maximillian G. Markowski, Julia Nandi, Tannistha Pan-Hammarstrom, Qiang Pedamallu, Chandra Sekhar Siebert, Reiner Stark, Stefan G. Su, Hong Tan, Patrick Waszak, Sebastian M. Yung, Christina Zhu, Shida Awadalla, Philip Creighton, Chad J. Meyerson, Matthew Ouellette, B. F. Francis Wu, Kui Yang, Huanming Brazma, Alvis Brooks, Angela N. Goke, Jonathan Ratsch, Gunnar Schwarz, Roland F. Stegle, Oliver Zhang, Zemin European Molecular Biology Laboratory European Bioinformatics Institute Hinxton UK European Molecular Biology Laboratory European Bioinformatics Institute (EMBL-EBI) Cambridge UK Genome Biology Unit European Molecular Biology Laboratory (EMBL) Heidelberg Germany CIBIO/InBIO - Research Center in Biodiversity and Genetic Resources Universidade do Porto Vairão Portugal Berlin Institute for Medical Systems Biology Max Delbruck Center for Molecular Medicine Berlin Germany German Cancer Consortium (DKTK) partner site Berlin Germany German Cancer Research Center (DKFZ) Heidelberg Germany Berlin Institute for Medical Systems Biology Max Delbrück Center for Molecular Medicine Berlin Germany German Cancer Consortium (DKTK) Partner site Berlin Berlin Germany European Molecular Biology Laboratory Genome Biology Unit Heidelberg Germany Division of Computational Genomics and Systems Genetics German Cancer Research Center (DKFZ) Heidelberg Germany ETH Zurich Zurich Switzerland Memorial Sloan Kettering Cancer Center New York NY USA Weill Cornell Medical College New York NY USA SIB Swiss Institute of Bioinformatics Lausanne Switzerland University Hospital Zurich Zurich Switzerland Computational Biology Center Memorial Sloan Kettering Cancer Center New York NY USA Department of Biology ETH Zurich Zürich Switzerland Department of Computer Science ETH Zurich Zurich Switzerland Korea University Seoul South Korea Computational and Systems Biology Program Memorial Sloan Kettering Cancer Center New York NY USA Department of Physiology and Biophysics Weill Cornell Medicine New York NY USA Institute for Computational Biomedicine Weill Cornell Medicine New York NY USA Controlled Department and Institution New York NY USA Englander Institute for Precision Medicine Weill Cornell Medicine New York NY USA National University of Singapore Singapore Singapore Genome Institute of Singapore Singapore Singapore Computational and Systems Biology Genome Institute of Singap

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The repertoire of mutational signatures in human cancer (vol 578, pg 94, 2020)

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NATURE 2023年第7948期614卷 E41-E41页

作者： Alexandrov, Ludmil B. Kim, Jaegil Haradhvala, Nicholas J. Huang, Mi Ni Ng, Alvin Wei Tian Wu, Yang Boot, Arnoud Covington, Kyle R. Gordenin, Dmitry A. Bergstrom, Erik N. Islam, S. M. Ashiqul Lopez-Bigas, Nuria Klimczak, Leszek J. McPherson, John R. Morganella, Sandro Sabarinathan, Radhakrishnan Wheeler, David A. Mustonen, Ville Getz, Gad Rozen, Steven G. Stratton, Michael R. Department of Cellular and Molecular Medicine Department of Bioengineering Moores Cancer Center University of California San Diego CA USA Wellcome Sanger Institute Wellcome Genome Campus Hinxton UK Department of Cellular and Molecular Medicine and Department of Bioengineering University of California San Diego La Jolla CA USA UC San Diego Moores Cancer Center San Diego CA USA University of California San Diego San Diego CA USA Broad Institute of MIT and Harvard Cambridge MA USA Center for Cancer Research Massachusetts General Hospital Boston MA USA Massachusetts General Hospital Boston MA USA Department of Pathology Massachusetts General Hospital Boston MA USA Harvard Medical School Boston MA USA Laboratory for Medical Science Mathematics RIKEN Center for Integrative Medical Sciences Yokohama Japan Computational Biology Program Ontario Institute for Cancer Research Toronto ON Canada Programme in Cancer & Stem Cell Biology Duke-NUS Medical School Singapore Singapore Centre for Computational Biology Duke-NUS Medical School Singapore Singapore Programme in Cancer and Stem Cell Biology Duke-NUS Medical School Singapore Singapore Programme in Cancer and Stem Cell Biology Centre for Computational Biology Duke-NUS Medical School Singapore Singapore SingHealth Duke-NUS Institute of Precision Medicine National Heart Centre Singapore Singapore Singapore Cancer Science Institute of Singapore National University of Singapore Singapore Singapore Institute of Molecular and Cell Biology Singapore Singapore Laboratory of Cancer Epigenome Division of Medical Science National Cancer Centre Singapore Singapore Singapore Duke-NUS Medical School Singapore Singapore Human Genome Sequencing Center Baylor College of Medicine Houston TX USA Dan L. Duncan Cancer Center Baylor College of Medicine Houston TX USA Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA Genome Integrity and Structural Biology Laboratory National Ins

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Middle East and North African Health informatics Association (MENAHIA): Building Sustainable Collaboration

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Yearbook of Medical informatics 2018年第1期27卷 286-291页

作者： Najeeb Al-Shorbaji Mowafa Househ Adel Taweel Abdullah Alanizi Bennani Othmani Mohammed Haitham Abaza Hala Bawadi Hamayon Rasuly Khalid Alyafei Luis Fernandez-Luque Mohamed Shouman Osama El-Hassan Rada Hussein Riyad Alshammari Salah Mandil Sarah Shouman Shahrad Taheri Tamer Emara Wasmiya Dalhem Zaid Al-Hamdan Zineb Serhier eHealth and Knowledge Management Consultant Retired Director of Knowledge Ethics and Research Department WHO/HQ Amman Jordan Department of Health Informatics College of Public Health and Health Informatics King Saud Bin Abdulaziz University for Health Sciences Ministry of National Guard-Health Affairs Riyadh Saudi Arabia Department of Computer Science BirZeit University Ramallah Palestine Head of Medical Informatics Unit 20 August Hospital Ibn Rochd University Hospital Casablanca Head of Casablanca Medical Informatics Laboratory Medical Faculty of Casablanca Morocco Department of Biomedical Engineering Misr University for Science & Technology Cairo Egypt Associate Professor College of Nursing University of Jordan Amman Jordan eHealth Program Coordinator Bamyan Provincial Hospital Bamyan City Afghanistan Chief Medical Informatics Officer (CMIO) - SIDRA Assistant Professor Clinical Pediatrics at Weill Cornell Medicine Qatar Qatar Computing Research Institute Hamad Bin Khalifa University Doha Qatar Faculty of Medicine Ain Shams University Cairo Egypt Vice-Chair of Emirates Health Informatics Society Head of eHealth Section at Dubai Health Authority Dubai United Arab Emirates Founder and Former Director of the Biomedical Informatics Center of Excellence (BMICoE) Information Technology Institute (ITI) Ministry of Communications and Information Technology (MCIT) Egypt President of Saudi Association for Health Informatics Riyadh Saudi Arabia Senior Consultant on eStrategies and eHealth to WHO and ITU Geneva Switzerland Department of Medicine Weill Cornell Medical College in Qatar Qatar Foundation Doha Qatar Executive Director of Nursing Informatics Hamad Medical Corporation Qatar Associate Professor of Nursing Management Faculty of Nursing Jordan University of Science and Technology Irbid Jordan Professor at Medical Informatics Laboratory Faculty of Medicine and Pharmacy Hassan II University Casablanca Morocco

There has been a growing interest in Health informatics applications, research, and education within the Middle East and North African Region over the past twenty years. People of this region share similar cultural and religious values, primarily speak the Arabic language, and have similar health care related issues, which are in dire need of being addressed. Health informatics efforts, organizations, and initiatives within the region have been largely under-represented within, but not ignored by, the International Medical informatics Association (IMIA). Attempts to create bonds and collaboration between the different organizations of the region have remained scattered, and often, resulted in failure despite the fact that the need for a united health informatics collaborative within the region has never been more crucial than today. During the 2017 MEDINFO, held in Hangzhou, China, a new organization, the Middle East and North African Health informatics Association (MENAHIA) was conceived as a regional non-governmental organization to promote and facilitate health informatics uptake within the region endorsing health informatics research and educational initiatives of the 22 countries represented within the region. This paper provides an overview of the collaboration and efforts to date in forming MENAHIA and displays the variety of initiatives that are already occurring within the MENAHIA region, which MENAHIA will help, endorse, support, share, and improve within the international forum of health informatics.

关键词： eHealth Middle East and North Africa Health informatics collaboration MENAHIA Universal Health Coverage Bioinformatics International Medical informatics Association

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Changing life expectancy in European countries 1990–2021: a subanalysis of causes and risk factors from the Global Burden of Disease Study 2021

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The Lancet Public Health 2025年第3期10卷 e172-e188页

作者： Steel, Nicholas Bauer-Staeb, Clarissa Maria Mercedes Ford, John A. Abbafati, Cristiana Abdalla, Mohammed Altigani Abdelkader, Atef Abdi, Parsa Zuñiga, Roberto Ariel Abeldaño Abiodun, Olugbenga Olusola Abolhassani, Hassan Abu-Gharbieh, Eman Abukhadijah, Hana J. Abu-Zaid, Ahmed Addo, Isaac Yeboah Addolorato, Giovanni Adekanmbi, Victor Adetunji, Juliana Bunmi Adeyeoluwa, Temitayo Esther Agardh, Emilie E. Agyemang-Duah, Williams Ahmad, Danish Ahmed, Ayman Ahmed, Syed Anees Akinosoglou, Karolina Akkaif, Mohammed Ahmed Al Awaidy, Salah Al Hasan, Syed Mahfuz Al Zaabi, Omar Ali Mohammed Aldridge, Robert W. Algammal, Abdelazeem M. Al-Gheethi, Adel Ali Saeed Ali, Abid Ali, Mohammed Usman Ali, Syed Shujait Ali, Waad Alicandro, Gianfranco Alif, Sheikh Mohammad Al-Jumaily, Adel Allebeck, Peter Alrawashdeh, Ahmad Al-Rifai, Rami H. Alsabri, Mohammed A. Alshahrani, Najim Z. Aluh, Deborah Oyine Al-Wardat, Mohammad Al-Zyoud, Walid A. Amiri, Sohrab Anderlini, Deanna Andrei, Catalina Liliana Anil, Abhishek Anvari, Saeid Anyasodor, Anayochukwu Edward Appiah, Seth Christopher Yaw Aquilano, Michele Arabloo, Jalal Arafat, Mosab Areda, Demelash Aremu, Abdulfatai Armani, Keivan Armocida, Benedetta Ärnlöv, Johan Asaduzzaman, Muhammad Astell-Burt, Thomas Aujayeb, Avinash Ausloos, Marcel Azadnajafabad, Sina Aziz, Shahkaar Azzam, Ahmed Y. Babu, Giridhara Rathnaiah Badache, Andreea Corina Badiye, Ashish D. Bahramian, Saeed Baig, Atif Amin Baker, Jennifer L. Bansal, Hansi Bärnighausen, Till Winfried Barone, Mark Thomaz Ugliara Barrow, Amadou Barteit, Sandra Bashir, Shahid Bashiru, Hameed Akande Basso, João Diogo Bastan, Mohammad-Mahdi Basu, Sanjay Batra, Kavita Bauckneht, Matteo Baune, Bernhard T. Beghi, Massimiliano Beiranvand, Maryam Béjot, Yannick Bell, Michelle L. Bello, Olorunjuwon Omolaja Belo, Luis Beloukas, Apostolos Beneke, Alice A. Bettencourt, Paulo J.G. Bhagavathula, Akshaya Srikanth Bhala, Neeraj Bhaskar, Sonu Bisulli, Francesca Bjørge, Tone Bodunrin, Aadam Olalekan Carvajal, Alejandro Botero Bouaoud, Souad Brayne, Carol Brenner, H Department of Primary Care and Public Health University of East Anglia Norwich United Kingdom Office for Health Improvement and Disparities Department of Health and Social Care London United Kingdom Department of Legal and Economic Studies La Sapienza University Rome Italy Rome Italy Hull York Medical School University of Hull Hull United Kingdom Department of Mathematics and Sciences Ajman University Ajman United Arab Emirates Department of Medicine Memorial University St. John's NL Canada Postgraduate Department University of Sierra Sur Miahuatlan de Porfirio Diaz Mexico Yhteiskuntadatatieteen keskus (Centre for Social Data Science) Helsinki Finland Department of Internal Medicine Federal Medical Centre Abuja Nigeria Research Center for Immunodeficiencies Tehran University of Medical Sciences Tehran Iran Department of Medical Biochemistry and Biophysics Karolinska Institutet (Karolinska Institute) Stockholm Sweden Department of Clinical Sciences University of Sharjah Sharjah United Arab Emirates Department of Biopharmaceutics and Clinical Pharmacy University of Jordan Amman Jordan Medical Research Center Hamad Medical Corporation Doha Qatar Department of Biochemistry and Molecular Medicine Alfaisal University Riyadh Saudi Arabia College of Graduate Health Sciences University of Tennessee Memphis TN United States School of Medicine Sydney NSW Australia Centre for Social Research in Health University of New South Wales Sydney NSW Australia Internal Medicine and Alcohol Related Disease Unit Fondazione Policlinico Universitario A. Gemelli IRCCS Rome Italy Department of Medical and Surgical Sciences Università Cattolica di Roma (Catholic University of Rome) Rome Italy Department of Obstetrics and Gynecology University of Texas Medical Branch Galveston TX United States Department of Biochemistry Osun State University Osogbo Nigeria Department of Pharmacology and Therapeutics University of Medical Sciences Ondo Ondo Nigeria Department of Veteri

Background: Decades of steady improvements in life expectancy in Europe slowed down from around 2011, well before the COVID-19 pandemic, for reasons which remain disputed. We aimed to assess how changes in risk factors and cause-specific death rates in different European countries related to changes in life expectancy in those countries before and during the COVID-19 pandemic. Methods: We used data and methods from the Global Burden of Diseases, Injuries, and Risk Factors Study 2021 to compare changes in life expectancy at birth, causes of death, and population exposure to risk factors in 16 European Economic Area countries (Austria, Belgium, Denmark, Finland, France, Germany, Greece, Iceland, Ireland, Italy, Luxembourg, the Netherlands, Norway, Portugal, Spain, and Sweden) and the four UK nations (England, Northern Ireland, Scotland, and Wales) for three time periods: 1990–2011, 2011–19, and 2019–21. Changes in life expectancy and causes of death were estimated with an established life expectancy cause-specific decomposition method, and compared with summary exposure values of risk factors for the major causes of death influencing life expectancy. Findings: All countries showed mean annual improvements in life expectancy in both 1990–2011 (overall mean 0·23 years [95% uncertainty interval [UI] 0·23 to 0·24]) and 2011–19 (overall mean 0·15 years [0·13 to 0·16]). The rate of improvement was lower in 2011–19 than in 1990–2011 in all countries except for Norway, where the mean annual increase in life expectancy rose from 0·21 years (95% UI 0·20 to 0·22) in 1990–2011 to 0·23 years (0·21 to 0·26) in 2011–19 (difference of 0·03 years). In other countries, the difference in mean annual improvement between these periods ranged from –0·01 years in Iceland (0·19 years [95% UI 0·16 to 0·21] vs 0·18 years [0·09 to 0·26]), to –0·18 years in England (0·25 years [0·24 to 0·25] vs 0·07 years [0·06 to 0·08]). In 2019–21, there was an overall decrease in mean annual life expectancy a

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Geographic and age variations in mutational processes in colorectal cancer

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Nature 2025年 1-11页

作者： Marcos Díaz-Gay Mariya Kazachkova Ammal Abbasi Christopher D. Steele Raviteja Vangara Erik N. Bergstrom Azhar Khandekar Burçak Otlu Ludmil B. Alexandrov Wellington dos Santos Sergey Senkin Behnoush Abedi-Ardekani Ana Carolina de Carvalho Thomas Cattiaux Ricardo Cortez Cardoso Penha Valérie Gaborieau Priscilia Chopard Sandra Perdomo Paul Brennan Sarah Moody Jingwei Wang Stephen Fitzgerald Saamin Cheema Calli Latimer Jon W. Teague Laura Humphreys Michael R. Stratton Christine Carreira Anush Mukeriya David Zaridze Riley Cox Monique Albert Larry Phouthavongsy Steven Gallinger Reza Malekzadeh Ahmadreza Niavarani Marko Miladinov Katarina Erić Sasa Milosavljevic Suleeporn Sangrajrang Maria Paula Curado Samuel Aguiar Rui Manuel Reis Monise Tadin Reis Luis Gustavo Romagnolo Denise Peixoto Guimarães Ivana Holcatova Jaroslav Kalvach Carlos Alberto Vaccaro Tamara Alejandra Piñero Beata Świątkowska Jolanta Lissowska Katarzyna Roszkowska-Purska Antonio Huertas-Salgado Tatsuhiro Shibata Satoshi Shiba Surasak Sangkhathat Taned Chitapanarux Gholamreza Roshandel Patricia Ashton-Prolla Daniel C. Damin Francine Hehn de Oliveira Trevor D. Lawley Department of Cellular and Molecular Medicine University of California San Diego La Jolla CA USA Department of Bioengineering University of California San Diego La Jolla CA USA Moores Cancer Center University of California San Diego La Jolla CA USA Digital Genomics Group Structural Biology Program Spanish National Cancer Research Center (CNIO) Madrid Spain Biomedical Sciences Graduate Program University of California San Diego La Jolla CA USA Division of Cancer Epidemiology and Genetics National Cancer Institute Bethesda MD USA Department of Health Informatics Graduate School of Informatics Middle East Technical University Ankara Turkey Sanford Stem Cell Institute University of California San Diego La Jolla CA USA Genomic Epidemiology Branch International Agency for Research on Cancer (IARC/WHO) Lyon France Cancer Ageing and Somatic Mutation Wellcome Sanger Institute Cambridge UK Evidence Synthesis and Classification Branch International Agency for Research on Cancer (IARC/WHO) Lyon France Clinical Epidemiology N. N. Blokhin National Medical Research Centre of Oncology Moscow Russia Ontario Tumour Bank Ontario Institute for Cancer Research Toronto Ontario Canada Centre for Biodiversity Genomics University of Guelph Guelph Ontario Canada Lunenfeld-Tanenbaum Research Institute Sinai Health System Toronto Ontario Canada Digestive Oncology Research Center Digestive Disease Research Institute Tehran University of Medical Sciences Tehran Iran Clinic for Digestive Surgery—First Surgical Clinic University Clinical Centre of Serbia Belgrade Serbia Department of Pathology University Clinical Centre of Serbia Belgrade Serbia International Organization for Cancer Prevention and Research Belgrade Serbia National Cancer Institute Bangkok Thailand Department of Epidemiology A. C. Camargo Cancer Center Sao Paulo Brazil Colon Cancer Reference Center A. C. Camargo Cancer Center Sao Paulo Brazil Molecular Oncology Research Center Barretos Cancer Hospital

Incidence rates of colorectal cancer vary geographically and have changed over time1. Notably, in the past two decades, the incidence of early-onset colorectal cancer, which affects individuals below 50 years of age, has doubled in many countries2,3,4,5. The reasons for this increase are unknown. Here we investigate whether mutational processes contribute to geographic and age-related differences by examining 981 colorectal cancer genomes from 11 countries. No major differences were found in microsatellite-unstable cancers, but variations in mutation burden and signatures were observed in the 802 microsatellite-stable cases. Multiple signatures, most with unknown aetiologies, exhibited varying prevalence in Argentina, Brazil, Colombia, Russia and Thailand, indicating geographically diverse levels of mutagenic exposure. Signatures SBS88 and ID18, caused by the bacteria-produced mutagen colibactin6,7, had higher mutation loads in countries with higher colorectal cancer incidence rates. SBS88 and ID18 were also enriched in early-onset colorectal cancers, being 3.3 times more common in individuals who were diagnosed before 40 years of age than in those over 70 years of age, and were imprinted early during colorectal cancer development. Colibactin exposure was further linked toAPCdriver mutations, with ID18 being responsible for about 25% ofAPCdriver indels in colibactin-positive cases. This study reveals geographic and age-related variations in colorectal cancer mutational processes, and suggests that mutagenic exposure to colibactin-producing bacteria in early life may contribute to the increasing incidence of early-onset colorectal cancer.

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The evolutionary history of 2,658 cancers (vol 578, pg 122, 2020)

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NATURE 2023年第7948期614卷 E42-E42页

作者： Gerstung, Moritz Jolly, Clemency Leshchiner, Ignaty Dentro, Stefan C. Gonzalez, Santiago Rosebrock, Daniel Mitchell, Thomas J. Rubanova, Yulia Anur, Pavana Yu, Kaixian Tarabichi, Maxime Deshwar, Amit Wintersinger, Jeff Kleinheinz, Kortine Vazquez-Garcia, Ignacio Haase, Kerstin Jerman, Lara Sengupta, Subhajit Macintyre, Geoff Malikic, Salem Donmez, Nilgun Livitz, Dimitri G. Cmero, Marek Demeulemeester, Jonas Schumacher, Steven Fan, Yu Yao, Xiaotong Lee, Juhee Schlesner, Matthias Boutros, Paul C. Bowtell, David D. Zhu, Hongtu Getz, Gad Imielinski, Marcin Beroukhim, Rameen Sahinalp, S. Cenk Ji, Yuan Peifer, Martin Markowetz, Florian Mustonen, Ville Yuan, Ke Wang, Wenyi Morris, Quaid D. Spellman, Paul T. Wedge, David C. Van Loo, Peter European Molecular Biology Laboratory European Bioinformatics Institute (EMBL-EBI) Cambridge UK European Molecular Biology Laboratory Genome Biology Unit Heidelberg Germany Wellcome Sanger Institute Cambridge UK Genome Biology Unit European Molecular Biology Laboratory (EMBL) Heidelberg Germany University of Ljubljana Ljubljana Slovenia The Francis Crick Institute London UK Big Data Institute University of Oxford Oxford UK Wellcome Sanger Institute Wellcome Genome Campus Hinxton UK Big Data Institute Li Ka Shing Centre University of Oxford Oxford UK University of Cambridge Cambridge UK Cambridge University Hospitals NHS Foundation Trust Cambridge UK Department of Applied Mathematics and Theoretical Physics Centre for Mathematical Sciences University of Cambridge Cambridge UK Department of Epidemiology and Biostatistics Memorial Sloan Kettering Cancer Center New York NY USA Department of Statistics Columbia University New York NY USA Department of Haematology University of Cambridge Cambridge UK University of Leuven Leuven Belgium Broad Institute of MIT and Harvard Cambridge MA USA Center for Cancer Research Massachusetts General Hospital Charlestown MA USA Department of Pathology Massachusetts General Hospital Boston MA USA Harvard Medical School Boston MA USA Center for Cancer Research Massachusetts General Hospital Boston MA USA Dana-Farber Cancer Institute Boston MA USA Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA Department of Cancer Biology Dana-Farber Cancer Institute Boston MA USA Oxford NIHR Biomedical Research Centre Oxford UK Oxford NIHR Biomedical Research Centre University of Oxford Oxford UK University of Toronto Toronto Ontario Canada Vector Institute Toronto Ontario Canada Vector Institute Toronto ON Canada Department of Computer Science University of Toronto Toronto ON Canada Ontario Institute for Cancer Research Toronto Ontario Canada University of California Los Angeles

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