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Genome-wide association study of lung adenocarcinoma in East Asia and comparison with a European population

Nature communications 2023年第1期14卷 3043页

作者： Jianxin Shi Kouya Shiraishi Jiyeon Choi Keitaro Matsuo Tzu-Yu Chen Juncheng Dai Rayjean J Hung Kexin Chen Xiao-Ou Shu Young Tae Kim Maria Teresa Landi Dongxin Lin Wei Zheng Zhihua Yin Baosen Zhou Bao Song Jiucun Wang Wei Jie Seow Lei Song I-Shou Chang Wei Hu Li-Hsin Chien Qiuyin Cai Yun-Chul Hong Hee Nam Kim Yi-Long Wu Maria Pik Wong Brian Douglas Richardson Karen M Funderburk Shilan Li Tongwu Zhang Charles Breeze Zhaoming Wang Batel Blechter Bryan A Bassig Jin Hee Kim Demetrius Albanes Jason Y Y Wong Min-Ho Shin Lap Ping Chung Yang Yang She-Juan An Hong Zheng Yasushi Yatabe Xu-Chao Zhang Young-Chul Kim Neil E Caporaso Jiang Chang James Chung Man Ho Michiaki Kubo Yataro Daigo Minsun Song Yukihide Momozawa Yoichiro Kamatani Masashi Kobayashi Kenichi Okubo Takayuki Honda Dean H Hosgood Hideo Kunitoh Harsh Patel Shun-Ichi Watanabe Yohei Miyagi Haruhiko Nakayama Shingo Matsumoto Hidehito Horinouchi Masahiro Tsuboi Ryuji Hamamoto Koichi Goto Yuichiro Ohe Atsushi Takahashi Akiteru Goto Yoshihiro Minamiya Megumi Hara Yuichiro Nishida Kenji Takeuchi Kenji Wakai Koichi Matsuda Yoshinori Murakami Kimihiro Shimizu Hiroyuki Suzuki Motonobu Saito Yoichi Ohtaki Kazumi Tanaka Tangchun Wu Fusheng Wei Hongji Dai Mitchell J Machiela Jian Su Yeul Hong Kim In-Jae Oh Victor Ho Fun Lee Gee-Chen Chang Ying-Huang Tsai Kuan-Yu Chen Ming-Shyan Huang Wu-Chou Su Yuh-Min Chen Adeline Seow Jae Yong Park Sun-Seog Kweon Kun-Chieh Chen Yu-Tang Gao Biyun Qian Chen Wu Daru Lu Jianjun Liu Ann G Schwartz Richard Houlston Margaret R Spitz Ivan P Gorlov Xifeng Wu Ping Yang Stephen Lam Adonina Tardon Chu Chen Stig E Bojesen Mattias Johansson Angela Risch Heike Bickeböller Bu-Tian Ji H-Erich Wichmann David C Christiani Gadi Rennert Susanne Arnold Paul Brennan James McKay John K Field Sanjay S Shete Loic Le Marchand Geoffrey Liu Angeline Andrew Lambertus A Kiemeney Shan Zienolddiny-Narui Kjell Grankvist Mikael Johansson Angela Cox Fiona Taylor Jian-Min Yuan Philip Lazarus Matthew B Schabath Melinda C Aldrich Hyo-Sung Jeon Shih Sheng Jiang Jae Sook Sung C Division of Cancer Epidemiology and Genetics National Cancer Institute Rockville MD USA. jianxin.shi@nih.gov. Division of Genome Biology National Cancer Research Institute Tokyo Japan. Division of Cancer Epidemiology and Genetics National Cancer Institute Rockville MD USA. Division of Cancer Epidemiology and Prevention Aichi Cancer Center Research Institute Nagoya Japan. Institute of Population Health Sciences National Health Research Institutes Zhunan Taiwan. Department of Epidemiology School of Public Health Nanjing Medical University Nanjing China. Jiangsu Key Lab of Cancer Biomarkers Prevention and Treatment Collaborative Innovation Center for Cancer Medicine Nanjing Medical University Nanjing China. Prosserman Centre for Population Health Research Lunenfeld-Tanenbaum Research Institute Sinai Health Toronto ON Canada. Department of Epidemiology and Biostatistics National Clinical Research Center for Cancer Key Laboratory of Molecular Cancer Epidemiology of Tianjin Tianjin Medical University Cancer Institute and Hospital Tianjin Medical University Tianjin China. Division of Epidemiology Department of Medicine Vanderbilt University Medical Center and Vanderbilt-Ingram Cancer Center Nashville TN USA. Cancer Research Institute Seoul National University College of Medicine Seoul Republic of Korea. Department of Etiology & Carcinogenesis and State Key Laboratory of Molecular Oncology Cancer Institute and Hospital Chinese Academy of Medical Sciences and Peking Union Medical College Beijing China. Department of Epidemiology School of Public Health China Medical University Shenyang China. Department of Clinical Epidemiology and Center of Evidence Based Medicine The First Hospital of China Medical University Shenyang China. Department of Oncology Shandong Cancer Hospital and Institute Shandong Academy of Medical Sciences Jinan China. Ministry of Education Key Laboratory of Contemporary Anthropology School of Life Sciences Fudan University Shanghai China. S

Lung adenocarcinoma is the most common type of lung cancer. Known risk variants explain only a small fraction of lung adenocarcinoma heritability. Here, we conducted a two-stage genome-wide association study of lung adenocarcinoma of East Asian ancestry (21,658 cases and 150,676 controls; 54.5% never-smokers) and identified 12 novel susceptibility variants, bringing the total number to 28 at 25 independent loci. Transcriptome-wide association analyses together with colocalization studies using a Taiwanese lung expression quantitative trait loci dataset (n = 115) identified novel candidate genes, including FADS1 at 11q12 and ELF5 at 11p13. In a multi-ancestry meta-analysis of East Asian and European studies, four loci were identified at 2p11, 4q32, 16q23, and 18q12. At the same time, most of our findings in East Asian populations showed no evidence of association in European populations. In our studies drawn from East Asian populations, a polygenic risk score based on the 25 loci had a stronger association in never-smokers vs. individuals with a history of smoking (P = 0.0058). These findings provide new insights into the etiology of lung adenocarcinoma in individuals from East Asian populations, which could be important in developing translational applications.

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Author Correction: Greengenes2 unifies microbial data in a single reference tree

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Nature biotechnology 2024年第5期42卷 813页

作者： Daniel McDonald Yueyu Jiang Metin Balaban Kalen Cantrell Qiyun Zhu Antonio Gonzalez James T Morton Giorgia Nicolaou Donovan H Parks Søren M Karst Mads Albertsen Philip Hugenholtz Todd DeSantis Se Jin Song Andrew Bartko Aki S Havulinna Pekka Jousilahti Susan Cheng Michael Inouye Teemu Niiranen Mohit Jain Veikko Salomaa Leo Lahti Siavash Mirarab Rob Knight Department of Pediatrics University of California San Diego School of Medicine La Jolla CA USA. Department of Electrical and Computer Engineering University of California San Diego La Jolla CA USA. Bioinformatics and Systems Biology Program University of California San Diego La Jolla CA USA. Department of Computer Science and Engineering University of California San Diego La Jolla CA USA. School of Life Sciences Arizona State University Tempe AZ USA. Biodesign Center for Fundamental and Applied Microbiomics Arizona State University Tempe AZ USA. Biostatistics & Bioinformatics Branch Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health Bethesda MD USA. Halicioglu Data Science Institute University of California San Diego La Jolla CA USA. Australian Centre for Ecogenomics School of Chemistry and Molecular Biosciences The University of Queensland St Lucia Queensland Australia. Department of Obstetrics and Gynecology Columbia University New York NY USA. Department of Chemistry and Bioscience Aalborg University Aalborg Denmark. Department of Informatics Second Genome Brisbane CA USA. Center for Microbiome Innovation Jacobs School of Engineering University of California San Diego La Jolla CA USA. Finnish Institute for Health and Welfare Helsinki Finland. Institute for Molecular Medicine Finland FIMM-HiLIFE Helsinki Finland. Division of Cardiology Brigham and Women's Hospital Boston MA USA. Cedars-Sinai Medical Center Los Angeles CA USA. Cambridge Baker Systems Genomics Initiative Baker Heart and Diabetes Institute Melbourne Victoria Australia. Cambridge Baker Systems Genomics Initiative Department of Public Health and Primary Care University of Cambridge Cambridge UK. Division of Medicine Turku University Hospital and University of Turku Turku Finland. Sapient Bioanalytics LLC San Diego CA USA. Department of Computing University of Turku Turku Finland. Department of Pediatrics Uni

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Journal of Biosciences 1999年第1期24卷 33-198页

作者： N. Manoj V. R. Srinivas A. Surolia M. Vijayan K. Suguna R. Ravishankar R. Schwarzenbacher K. Zeth Diederichs G. M. Kostner A. Gries P. Laggner R. Prassl Madhusudan Pearl Akamine Nguyen-huu Xuong Susan S. Taylor M. Bidva Sagar K. Saikrishnan S. Roy K. Purnapatre P. Handa U. Varshney B. K. Biswal N. Sukumar J. K. Mohana Rao A. Johnson Vasantha Pattabhi S. Sri Krishna Mira Sastri H. S. Savithri M. R. N. Murthy Bindu Pillai Kannan M. V. Hosur Mukesh Kumar Swati Patwardhan K. K. Kannan B. Padmanabhaa S. Sasaki-Sugio M. Nukaga T. Matsuzaki S. Karthikevan S. Sharma A. K. Sharma M. Paramasivam P. Kumar J. A. Khan S. Yadav A. Srinivasan T. P. Singh S. Gourinath Neelima Alam A. Srintvasan Vikas Chandra Punit Kaur Ch. Betzel S. Ghosh A. K. Bera S. Bhattacharya S. Chakraborty A. K. Pal B. P. Mukhopadhyay I. Dey U. Haldar Asok Baneriee Jozef Sevcik Adriana Solovicova K. Sekar M. Sundaralingam N. Genov Dong-cai Liang Tao Jiang Ji-ping Zhang Wen-rui Chang Wolfgang Jahnke Marcel Blommers S. C. Panchal R. V. Hosur Bindu Pillay Puniti Mathur S. Srivatsun Ratan Mani Joshi N. R. Jaganathan V. S. Chauhan H. S. Atreya S. C. Sahu K. V. R. Chary Girjesh Govil Elisabeth Adjadj Éric Quinjou Nadia Izadi-Pruneyre Yves Blouquit Joël Mispelter Bernadette Heyd Guilhem Lerat Philippe Milnard Michel Desmadreil Y. Lin B. D. Nageswara Rao Vidva Raghunathan Mei H. Chau Prashant Pesais Sudha Srivastava Evans Coutinho Anil Saran Leizl F. Sapico Jayson Gesme Herbert Lijima Raymond Paxton Thamarapu Srikrishnan C. R. Grace G. Nagenagowda A. M. Lynn Sudha M. Cowsik Sarata C. Sahu S. Chauhan A. Bhattacharya G. Govil Anil Kumar Maurizio Pellecchia Erik R. P. Zuiderweg Keiichi Kawano Tomoyasu Aizawa Naoki Fujitani Yoichi Hayakawa Atsushi Ohnishi Tadayasu Ohkubo Yasuhiro Kumaki Kunio Hikichi Katsutoshi Nitta V. Rani Parvathy R. M. Kini Takumi Koshiba Yoshihiro Kobashigawa Min Yao Makoto Demura Astushi Nakagawa Isao Tanaka Kunihiro Kuwajima Jens Linge Seán O. Donoghue Michael Nilges G. Chakshusmathi Girish S. Ratnaparkhi P. K. Madhu R. Varadarajan C. Tetreau Molecular Biophysics Unit Indian Institute of Science Bangalore India Austrian Academy of Sciences Institute of Biophysics and X-ray Structure Research Graz Austria Faculty of Biology University of Konstanz Germany Institute of Medical Biochemistry University of Graz Austria Howard Huges Medical Institute Department of Chemistry & Biochemistry University of California La Jolla USA Department of Chemistry & Biochemistry University of California San Diego La Jolla USA Molecular Biophysics Unit India Department of Microbiology &Cell Biology Indian Institute of Science Bangalore India Macromolecular Structure Laboratory NCI - Frederick Cancer Research and Development Center ABL - Basic Research Program Frederick USA Department of Crystallography and Biophysics University of Madras Chennai Biochemistry Department Indian Institute of Science Bangalore India Condensed Matter Physics Division B.A.R.C. Trombay Mumbai Condensed Matter Physics Division Bhabha Atomic Research Centre Trombay Mumbai IMCB The University of Tokyo Tokyo Japan Mitsubishi Chemical Corporation Yokohama Research Center Yokohama Japan Faculty of Pharmaceutical Sciences Chiba University Chiba Japan Department of Biophysics All India Institute of Medical Sciences New Delhi India Department of Biophysics All India Institute of Medical sciences New Delhi India Institüt Physiologische Chemie Hamburg Germany Biophysics Department Bose Institute Calcutta India Slovak Academy of Sciences Institute of Molecular Biology Bratislava Slovakia Indian Institute of Science Bioinformatics Centre Bangalore Departments of Chemistry and Biochemistry Biological Macromolecular Structure Center USA Bulgarian Academy of Sciences Institute of Organic Chemistry Sofia Bulgaria Chinese Academy of Sciences Institute of Biophysics Beijing China Novartis Pharma AG Preclinical Research Basel Switzerland Department of Chemical Sciences Tata Institute of Fundamental Research Mumbai India Solid State Physics Div

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Proceedings from the 9th annual conference on the science of dissemination and implementation: Washington, DC, USA. 14-15 December 2016

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Implement Sci 2017年第SUPPL 1期12卷 48-48页

作者： David Chambers Lisa Simpson Gila Neta Ulrica von Thiele Schwarz Antoinette Percy-Laurry Gregory A. Aarons Ross Brownson Amanda Vogel Shannon Wiltsey Stirman Kenneth Sherr Rachel Sturke Wynne E. Norton Allyson Varley Cynthia Vinson Lisa Klesges Suzanne Heurtin-Roberts M. Rashad Massoud Leighann Kimble Arne Beck Claire Neely Jennifer Boggs Carmel Nichols Wen Wan Erin Staab Neda Laiteerapong Nathalie Moise Ravi Shah Susan Essock Margaret Handley Amy Jones Jay Carruthers Karina Davidson Lauren Peccoralo Lloyd Sederer Todd Molfenter Ashley Scudder Sarah Taber-Thomas Kristen Schaffner Amy Herschell Eva Woodward Jeffery Pitcock Mona Ritchie JoAnn Kirchner Julia E. Moore Sobia Khan Shusmita Rashid Jamie Park Melissa Courvoisier Sharon Straus Daniel Blonigen Allison Rodriguez Luisa Manfredi Andrea Nevedal Joel Rosenthal David Smelson Christine Timko Nicole Stadnick Jennifer Regan Miya Barnett Anna Lau Lauren Brookman-Frazee Erick Guerrero Karissa Fenwick Yinfei Kong Gregory Aarons Rebecca Lengnick-Hall Benjamin Henwood Nina Sayer Craig Rosen Robert Orazem Brandy Smith Lindsey Zimmerman David Lounsbury Rachel Kimerling Jodie A. Trafton Steven Lindley Rahul Bhargava Hal Roberts Laura Gibson Gabriel J. Escobar Vincent Liu Benjamin Turk Arona Ragins Patricia Kipnis Ashley Ketterer Gruszkowski Michael W. Kennedy Emily Rentschler Drobek Lior Turgeman Aleksandra Sasha Milicevic Terrence L. Hubert Larissa Myaskovsky Youxu C. Tjader Robert J. Monte Kathryn G. Sapnas Edmond Ramly Diane R Lauver Christie M Bartels Shereef Elnahal Andrea Ippolito Hillary Peabody Carolyn Clancy Randall Cebul Thomas Love Douglas Einstadter Shari Bolen Brook Watts Vera Yakovchenko Angela Park William Lukesh Donald R. Miller David Thornton Mari-Lynn Drainoni Allen L. Gifford Shawna Smith Julia Kyle Mark S Bauer Daniel Eisenberg Celeste Liebrecht Michelle Barbaresso Amy Kilbourne Elyse Park Giselle Perez Jamie Ostroff Sarah Greene Michael Parchman Brian Austin Eric Larson Stefanie Ferreri Chris Shea Megan Smith Kea Turner Jennifer Bacci Kyle Bigham Geoffr Division of Cancer Control and Population Sciences National Cancer Institute Rockville MD 20850 USA AcademyHealth Washington DC 20009 USA Department of Learning Informatics Management and Ethics Karolinska Institutet Stockholm 17177 Sweden Department of Psychiatry University of California San Diego San Diego CA 92093 USA George Warren Brown School of Social Work Washington University in St. Louis St. Louis MO 63130 USA Center for Global Health National Cancer Institute Rockville MD 20850 USA Dissemination and Training Division VA National Center for PTSD Palo Alto CA 94305 USA Department of Global Health University of Washington Seattle WA 98105 USA Center for Global Health Studies Fogarty International Center National Institutes of Health Bethesda MD 20912 USA School of Public Health University of Alabama at Birmingham Birmingham AL 35243 USA School of Public Health University of Memphis Memphis TN 38152 USA USAID Applying Science to Strengthen and Improve Systems (ASSIST) Project Bethesda Maryland 20814 USA Institute for Health Research Kaiser Permanente Denver CO 80231 USA ICSI Institute for Clinical Systems Improvement Bloomington MN 55425 USA Medicine University of Chicago Chicago IL 60637 USA Medicine Columbia University Medical Center New York NY 10032 USA Psychiatry Columbia University New York NY 10032 USA General Internal Medicine Epidemiology and Biostatistics University of California San Francisco San Francisco CA 94110 USA New York State Office of Mental Health New York NY 10001 USA Medicine Icahn School of Medicine at Mount Sinai New York NY 10029 USA Center for Health Enhancement System Studies University of Wisconsin Madison WI 53706 USA Department of Psychiatry University of Pittsburgh Pittsburgh PA 15213 USA Psychology University at Buffalo Buffalo NY 14260 USA Department of Psychology West Virginia University Morgantown WV 26506 USA MIRECC VA North Little Rock AR 72114 USA QUERI for Team-Based Behavioral Health Centr

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Erratum to: Methods for evaluating medical tests and biomarkers

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Diagnostic and prognostic research 2017年第1期1卷 11页

作者： Gowri Gopalakrishna Miranda Langendam Rob Scholten Patrick Bossuyt Mariska Leeflang Anna Noel-Storr James Thomas Iain Marshall Byron Wallace Penny Whiting Clare Davenport Gowri GopalaKrishna Isabel de Salis Sue Mallett Robert Wolff Richard Riley Marie Westwood Jos Kleinen Gary Collins Hans Reitsma Karel Moons Antonia Zapf Annika Hoyer Katharina Kramer Oliver Kuss J Ensor J J Deeks E C Martin R D Riley Gerta Rücker Susanne Steinhauser Martin Schumacher Joie Ensor Kym Snell Brian Willis Thomas Debray Jon Deeks Lavinia Ferrante di Ruffano Sian Taylor-Phillips Chris Hyde Stuart A Taylor Gauraang Batnagar Lavinia Ferrante Di Ruffano Farah Seedat Aileen Clarke Sarah Byron Frances Nixon Rebecca Albrow Thomas Walker Carla Deakin Zhivko Zhelev Harriet Hunt Yaling Yang Lucy Abel James Buchanan Thomas Fanshawe Bethany Shinkins Laure Wynants Jan Verbakel Sabine Van Huffel Dirk Timmerman Ben Van Calster Aeliko Zwinderman Jason Oke Jack O'Sullivan Rafael Perera Brian Nicholson Hannah L Bromley Tracy E Roberts Adele Francis Denniis Petrie G Bruce Mann Kinga Malottki Holly Smith Lucinda Billingham Alice Sitch Oke Gerke Mie Holm-Vilstrup Eivind Antonsen Segtnan Ulrich Halekoh Poul Flemming Høilund-Carlsen Bernard G Francq Jac Dinnes Julie Parkes Walter Gregory Jenny Hewison Doug Altman William Rosenberg Peter Selby Julien Asselineau Paul Perez Aïssatou Paye Emilie Bessede Cécile Proust-Lima Christiana Naaktgeboren Joris de Groot Anne Rutjes Johannes Reitsma Emmanuel Ogundimu Jonathan Cook Yannick Le Manach Yvonne Vergouwe Romin Pajouheshnia Rolf Groenwold Karen Moons Linda Peelen Daan Nieboer Bavo De Cock Micael J Pencina Ewout W Steyerberg Jennifer Cooper Nick Parsons Chris Stinton Steve Smith Andy Dickens Rachel Jordan Alexandra Enocson David Fitzmaurice Peymane Adab Charles Boachie Gaj Vidmar Karoline Freeman Martin Connock Rachel Court Carl Moons Jessica Harris Andrew Mumford Zoe Plummer Kurtis Lee Barnaby Reeves Chris Rogers Veerle Verheyden Gianni D Angelini Gavin J Murphy Jeremy Huddy Melody Ni Katherine Good Graham Cooke 1Department of Clinical Epidemiology Biostatistics & Bioinformatics Academic Medical Center University of Amsterdam Amsterdam The Netherlands. 2Cochrane Netherlands Julius Center for Health Sciences and Primary Care University Medical Center Utrecht Utrecht Netherlands. 234Department of Clinical Epidemiology Biostatistics & Bioinformatics Academic Medical Center University of Amsterdam Amsterdam The Netherlands. 49Department of Clinical Epidemiology Biostatistics & Bioinformatics Academic Medical Center University of Amsterdam Amsterdam The Netherlands. 3Cochrane Dementia and Cognitive Improvement Group University of Oxford Oxford UK. 4EPPI-Centre Department of Social Science University College London London UK. 5Division of Health and Social Care Research King's College London London UK. 6College of Computer and Information Science Northeastern University Boston USA. 13University Hospitals Bristol NHS Foundation Trust School of Social and Community Medicine Bristol UK. 275Institute of Applied Health Research University of Birmingham Birmingham UK. 9Department of Clinical Epidemiology Biostatistics & Bioinformatics Academic Medical Center University of Amsterdam Amsterdam The Netherlands. 10School of Social and Community Medicine University of Bristol Bristol UK. 179Institute of Applied Health Research University of Birmingham Birmingham UK. 12Kleijnen Systematic Reviews Ltd York UK. 25Research Institute for Primary Care and Health Sciences Keele University Keele UK. 188Centre for Statistics in Medicine Nuffield Department of Orthopaedics Rheumatology and Musculoskeletal Sciences University of Oxford Oxford UK. 191Julius Center for Health Sciences and Primary Care University Medical Center Utrecht 3584 CG Utrecht Netherlands. 237Julius Center for Health Sciences and Primary Care University Medical Center Utrecht 3584 CG Utrecht Netherlands. 18Department of Medical Statistics University Medical Center Göttingen Göttingen Germany. 19Institute for B

[This corrects the article DOI: 10.1186/s41512-016-0001-y.].

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Publisher Correction: Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience

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Nature genetics 2024年第12期56卷 2843页

作者： Sean J Jurgens Joel T Rämö Daria R Kramarenko Leonoor F J M Wijdeveld Jan Haas Mark D Chaffin Sophie Garnier Liam Gaziano Lu-Chen Weng Alex Lipov Sean L Zheng Albert Henry Jennifer E Huffman Saketh Challa Frank Rühle Carmen Diaz Verdugo Christian Krijger Juárez Shinwan Kany Constance A van Orsouw Kiran Biddinger Edwin Poel Amanda L Elliott Xin Wang Catherine Francis Richard Ruan Satoshi Koyama Leander Beekman Dominic S Zimmerman Jean-François Deleuze Eric Villard David-Alexandre Trégouët Richard Isnard Dorret I Boomsma Eco J C de Geus Rafik Tadros Yigal M Pinto Arthur A M Wilde Jouke-Jan Hottenga Juha Sinisalo Teemu Niiranen Roddy Walsh Amand F Schmidt Seung Hoan Choi Kyong-Mi Chang Philip S Tsao Paul M Matthews James S Ware R Thomas Lumbers Saskia van der Crabben Jari Laukkanen Aarno Palotie Ahmad S Amin Philippe Charron Benjamin Meder Patrick T Ellinor Mark Daly Krishna G Aragam Connie R Bezzina Department of Experimental Cardiology Amsterdam Cardiovascular Sciences Heart Failure & Arrhythmias Amsterdam UMC location University of Amsterdam Amsterdam the Netherlands. Cardiovascular Disease Initiative Broad Institute of MIT and Harvard Cambridge MA USA. Cardiovascular Research Center Massachusetts General Hospital Boston MA USA. Institute for Molecular Medicine Finland (FIMM) Helsinki Institute of Life Science (HiLIFE) University of Helsinki Helsinki Finland. European Reference Network for rare low prevalence and complex diseases of the heart: ERN GUARD-Heart Amsterdam the Netherlands. Department of Physiology Amsterdam UMC location Vrije Universiteit Amsterdam the Netherlands. Department of Medicine III Institute for Cardiomyopathies Heidelberg (ICH) University Hospital Heidelberg Heidelberg Germany. Site Heidelberg/Mannheim DZHK Heidelberg Germany. Research Unit on Cardiovascular Disorders Metabolism and Nutrition Team Genomics and Pathophysiology of Cardiovascular Disease Sorbone Université INSERM Paris France. ICAN Institute for Cardiometabolism and Nutrition Paris France. National Heart and Lung Institute Imperial College London London UK. MRC Laboratory of Medical Sciences Imperial College London London UK. Royal Brompton and Harefield Hospitals Guy's and St. Thomas' NHS Foundation Trust London UK. Institute of Cardiovascular Science University College London London UK. Institute of Health Informatics University College London London UK. Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC) VA Boston Healthcare System Boston MA USA. Palo Alto Veterans Institute for Research (PAVIR) Palo Alto Health Care System Palo Alto CA USA. Harvard Medical School Boston MA USA. Bioinformatics Core Facility Institute of Molecular Biology gGmbH (IMB) Mainz Germany. Department of Genetic Epidemiology Institute of Human Genetics University of Münster Münster Germany. Department of Cardiology University Heart and Vascular

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Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

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Nature communications 2017年第1期8卷 1414页

作者： M Carola Zillikens Serkalem Demissie Yi-Hsiang Hsu Laura M Yerges-Armstrong Wen-Chi Chou Lisette Stolk Gregory Livshits Linda Broer Toby Johnson Daniel L Koller Zoltán Kutalik Jian'an Luan Ida Malkin Janina S Ried Albert V Smith Gudmar Thorleifsson Liesbeth Vandenput Jing Hua Zhao Weihua Zhang Ali Aghdassi Kristina Åkesson Najaf Amin Leslie J Baier Inês Barroso David A Bennett Lars Bertram Rainer Biffar Murielle Bochud Michael Boehnke Ingrid B Borecki Aron S Buchman Liisa Byberg Harry Campbell Natalia Campos Obanda Jane A Cauley Peggy M Cawthon Henna Cederberg Zhao Chen Nam H Cho Hyung Jin Choi Melina Claussnitzer Francis Collins Steven R Cummings Philip L De Jager Ilja Demuth Rosalie A M Dhonukshe-Rutten Luda Diatchenko Gudny Eiriksdottir Anke W Enneman Mike Erdos Johan G Eriksson Joel Eriksson Karol Estrada Daniel S Evans Mary F Feitosa Mao Fu Melissa Garcia Christian Gieger Thomas Girke Nicole L Glazer Harald Grallert Jagvir Grewal Bok-Ghee Han Robert L Hanson Caroline Hayward Albert Hofman Eric P Hoffman Georg Homuth Wen-Chi Hsueh Monica J Hubal Alan Hubbard Kim M Huffman Lise B Husted Thomas Illig Erik Ingelsson Till Ittermann John-Olov Jansson Joanne M Jordan Antti Jula Magnus Karlsson Kay-Tee Khaw Tuomas O Kilpeläinen Norman Klopp Jacqueline S L Kloth Heikki A Koistinen William E Kraus Stephen Kritchevsky Teemu Kuulasmaa Johanna Kuusisto Markku Laakso Jari Lahti Thomas Lang Bente L Langdahl Lenore J Launer Jong-Young Lee Markus M Lerch Joshua R Lewis Lars Lind Cecilia Lindgren Yongmei Liu Tian Liu Youfang Liu Östen Ljunggren Mattias Lorentzon Robert N Luben William Maixner Fiona E McGuigan Carolina Medina-Gomez Thomas Meitinger Håkan Melhus Dan Mellström Simon Melov Karl Michaëlsson Braxton D Mitchell Andrew P Morris Leif Mosekilde Anne Newman Carrie M Nielson Jeffrey R O'Connell Ben A Oostra Eric S Orwoll Aarno Palotie Stephen C J Parker Munro Peacock Markus Perola Annette Peters Ozren Polasek Richard L Prince Katri Räikkönen Stuart H Ralston Samuli Ripatti John A Robbins Jerome I Rotter Igor Rudan Veikko Department of Internal Medicine Erasmus MC Rotterdam 3000 The Netherlands. Netherlands Genomics Initiative (NGI)-sponsored Netherlands Consortium for Healthy Aging (NCHA) Leiden 2593 The Netherlands. Department of Biostatistics Boston University School of Public Health Boston MA 02118 USA. Hebrew SeniorLife Institute for Aging Research Roslindale MA 02131 USA. Harvard Medical School Boston MA 02115 USA. Molecular and Integrative Physiological Sciences Program Harvard School of Public Health Boston MA 02115 USA. Program in Personalized and Genomic Medicine and Department of Medicine Division of Endocrinology Diabetes and Nutrition University of Maryland School of Medicine Baltimore MD 21201 USA. Broad Institute Cambridge MA 02142 USA. Sackler Faculty of Medicine Department of Anatomy and Anthropology Tel Aviv University Tel Aviv 6997801 Israel. Department of Twin Research and Genetic Epidemiology King's College London St Thomas' Campus London WC2R 2LS UK. Department of Epidemiology Erasmus MC Rotterdam 3000 The Netherlands. Department of Medical Genetics University of Lausanne Lausanne 1011 Switzerland. Swiss Institute of Bioinformatics Lausanne 1015 Switzerland. Centre Hospitalier Universitaire (CHUV) University Institute for Social and Preventive Medicine Lausanne 1010 Switzerland. Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis IN 46202 USA. MRC Epidemiology Unit University of Cambridge School of Clinical Medicine Cambridge Biomedical Campus Cambridge CB2 OQQ UK. Institute of Epidemiology II Helmholtz Zentrum München - German Research Center for Environmental Health Neuherberg 85764 Germany. Icelandic Heart Association Kopavogur 201 Iceland. Faculty of Medicine University of Iceland Reykjavik 101 Iceland. deCODE Genetics Reykjavik 101 Iceland. Department of Internal Medicine Institute of Medicine Sahlgrenska Academy University of Gothenburg Gothenburg SE-405 30 Sweden. Dep

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Corrigendum to "Dissecting the genetic heterogeneity of gastric cancer"

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EBioMedicine 2023年 94卷 104709页

作者： Timo Hess Carlo Maj Jan Gehlen Oleg Borisov Stephan L Haas Ines Gockel Michael Vieth Guillaume Piessen Hakan Alakus Yogesh Vashist Carina Pereira Michael Knapp Vitalia Schüller Alexander Quaas Heike I Grabsch Jessica Trautmann Ewa Malecka-Wojciesko Anna Mokrowiecka Jan Speller Andreas Mayr Julia Schröder Axel M Hillmer Dominik Heider Florian Lordick Ángeles Pérez-Aísa Rafael Campo Jesús Espinel Fernando Geijo Concha Thomson Luis Bujanda Federico Sopeña Ángel Lanas María Pellisé Claudia Pauligk Thorsten Oliver Goetze Carolin Zelck Julian Reingruber Emadeldin Hassanin Peter Elbe Sandra Alsabeah Mats Lindblad Magnus Nilsson Nicole Kreuser René Thieme Francesca Tavano Roberta Pastorino Dario Arzani Roberto Persiani Jin-On Jung Henrik Nienhüser Katja Ott Ralf R Schumann Oliver Kumpf Susen Burock Volker Arndt Anna Jakubowska Małgorzta Ławniczak Victor Moreno Vicente Martín Manolis Kogevinas Marina Pollán Justyna Dąbrowska Antonio Salas Olivier Cussenot Anne Boland-Auge Delphine Daian Jean-Francois Deleuze Erika Salvi Maris Teder-Laving Gianluca Tomasello Margherita Ratti Chiara Senti Valli De Re Agostino Steffan Arnulf H Hölscher Katharina Messerle Christiane Josephine Bruns Armands Sīviņš Inga Bogdanova Jurgita Skieceviciene Justina Arstikyte Markus Moehler Hauke Lang Peter P Grimminger Martin Kruschewski Nikolaos Vassos Claus Schildberg Philipp Lingohr Karsten Ridwelski Hans Lippert Nadine Fricker Peter Krawitz Per Hoffmann Markus M Nöthen Lothar Veits Jakob R Izbicki Adrianna Mostowska Federico Martinón-Torres Daniele Cusi Rolf Adolfsson Geraldine Cancel-Tassin Aksana Höblinger Ernst Rodermann Monika Ludwig Gisela Keller Andres Metspalu Hermann Brenner Joerg Heller Markus Neef Michael Schepke Franz Ludwig Dumoulin Lutz Hamann Renato Cannizzaro Michele Ghidini Dominik Plaßmann Michael Geppert Peter Malfertheiner Olivier Glehen Tomasz Skoczylas Marek Majewski Jan Lubiński Orazio Palmieri Stefania Boccia Anna Latiano Nuria Aragones Thomas Schmidt Mário Dinis-Ribeiro Rui Medeiros Salah-Eddin Al-Batran Mārcis Leja Juozas Institute of Human Genetics University of Marburg Marburg Germany Institute of Human Genetics University of Bonn School of Medicine & University Hospital Bonn Bonn Germany. Institute for Genomic Statistics and Bioinformatics Medical Faculty University of Bonn Bonn Germany. Institute of Human Genetics University of Marburg Marburg Germany. Department of Upper GI Diseases Karolinska University Hospital and Unit of Gastroenterology and Rheumatology Karolinska Institutet Stockholm Sweden. Department of Visceral Transplant Thoracic and Vascular Surgery University Hospital Leipzig Leipzig Germany. Institute for Pathology Friedrich-Alexander-University Erlangen-Nuernberg Klinikum Bayreuth Bayreuth Germany. Department of Digestive and Oncological Surgery Claude Huriez Hospital CHU Lille Lille France. Department of General Visceral Cancer and Transplant Surgery University of Cologne Cologne Germany. Department of General Visceral and Thoracic Surgery University Medical Center Hamburg-Eppendorf University of Hamburg Hamburg Germany Centre for Surgical Oncology Medias Klinikum Burghausen Burghausen Germany. Molecular Oncology and Viral Pathology Group IPO Porto Research Center (CI-IPOP) Portuguese Institute of Oncology of Porto (IPO Porto) 4200-072 Porto Portugal Porto Comprehensive Cancer Center & RISE @ CI-IPO University of Porto 4200-450 Porto Portugal. Institute of Medical Biometrics Informatics and Epidemiology (IMBIE) Medical Faculty University of Bonn Bonn Germany. Institute of Pathology University Hospital Cologne Medical Faculty University of Cologne Germany. Department of Pathology GROW School for Oncology and Developmental Biology Maastricht University Medical Center Maastricht the Netherlands Pathology and Data Analytics Leeds Institute of Medical Research at St James's University of Leeds Leeds United Kingdom. Department of Digestive Tract Diseases Medical University of Lodz Lodz Poland. Department of Mathematics and Computer Science Unive

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Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

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Scientific data 2017年第1期4卷 170179页

作者： Jason Flannick Christian Fuchsberger Anubha Mahajan Tanya M Teslovich Vineeta Agarwala Kyle J Gaulton Lizz Caulkins Ryan Koesterer Clement Ma Loukas Moutsianas Davis J McCarthy Manuel A Rivas John R B Perry Xueling Sim Thomas W Blackwell Neil R Robertson N William Rayner Pablo Cingolani Adam E Locke Juan Fernandez Tajes Heather M Highland Josee Dupuis Peter S Chines Cecilia M Lindgren Christopher Hartl Anne U Jackson Han Chen Jeroen R Huyghe Martijn van de Bunt Richard D Pearson Ashish Kumar Martina Müller-Nurasyid Niels Grarup Heather M Stringham Eric R Gamazon Jaehoon Lee Yuhui Chen Robert A Scott Jennifer E Below Peng Chen Jinyan Huang Min Jin Go Michael L Stitzel Dorota Pasko Stephen C J Parker Tibor V Varga Todd Green Nicola L Beer Aaron G Day-Williams Teresa Ferreira Tasha Fingerlin Momoko Horikoshi Cheng Hu Iksoo Huh Mohammad Kamran Ikram Bong-Jo Kim Yongkang Kim Young Jin Kim Min-Seok Kwon Juyoung Lee Selyeong Lee Keng-Han Lin Taylor J Maxwell Yoshihiko Nagai Xu Wang Ryan P Welch Joon Yoon Weihua Zhang Nir Barzilai Benjamin F Voight Bok-Ghee Han Christopher P Jenkinson Teemu Kuulasmaa Johanna Kuusisto Alisa Manning Maggie C Y Ng Nicholette D Palmer Beverley Balkau Alena Stančáková Hanna E Abboud Heiner Boeing Vilmantas Giedraitis Dorairaj Prabhakaran Omri Gottesman James Scott Jason Carey Phoenix Kwan George Grant Joshua D Smith Benjamin M Neale Shaun Purcell Adam S Butterworth Joanna M M Howson Heung Man Lee Yingchang Lu Soo-Heon Kwak Wei Zhao John Danesh Vincent K L Lam Kyong Soo Park Danish Saleheen Wing Yee So Claudia H T Tam Uzma Afzal David Aguilar Rector Arya Tin Aung Edmund Chan Carmen Navarro Ching-Yu Cheng Domenico Palli Adolfo Correa Joanne E Curran Dennis Rybin Vidya S Farook Sharon P Fowler Barry I Freedman Michael Griswold Daniel Esten Hale Pamela J Hicks Chiea-Chuen Khor Satish Kumar Benjamin Lehne Dorothée Thuillier Wei Yen Lim Jianjun Liu Marie Loh Solomon K Musani Sobha Puppala William R Scott Loïc Yengo Sian-Tsung Tan Herman A Taylor Farook Thameem Gregory Wilson Tien Yin Wong Pål Rasmu Department of Molecular Biology Massachusetts General Hospital Boston Massachusetts USA. Program in Medical and Population Genetics Broad Institute Cambridge Massachusetts USA. Department of Biostatistics and Center for Statistical Genetics University of Michigan Ann Arbor Michigan USA. Wellcome Trust Centre for Human Genetics Nuffield Department of Medicine University of Oxford Oxford UK. Harvard-MIT Division of Health Sciences and Technology Massachusetts Institute of Technology Cambridge Massachusetts USA. Department of Statistics University of Oxford Oxford UK. Genetics of Complex Traits University of Exeter Medical School University of Exeter Exeter UK. MRC Epidemiology Unit Institute of Metabolic Science University of Cambridge Cambridge UK. Department of Twin Research and Genetic Epidemiology King's College London London UK. Oxford Centre for Diabetes Endocrinology and Metabolism Radcliffe Department of Medicine University of Oxford Oxford UK. Department of Human Genetics Wellcome Trust Sanger Institute Hinxton Cambridgeshire UK. School of Computer Science McGill University Montreal Quebec Canada. McGill University and Génome Québec Innovation Centre Montreal Quebec Canada. Human Genetics Center The University of Texas Graduate School of Biomedical Sciences at Houston The University of Texas Health Science Center at Houston Houston Texas USA. Department of Biostatistics Boston University School of Public Health Boston Massachusetts USA. National Heart Lung and Blood Institute's Framingham Heart Study Framingham Massachusetts USA. Medical Genomics and Metabolic Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland USA. Department of Biostatistics Harvard School of Public Health Boston Massachusetts USA. Chronic Disease Epidemiology Swiss Tropical and Public Health Institute University of Basel Basel Switzerland. Institute of Genetic Epidemiology Helmholtz Zentrum München German R

To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (>80% of low-frequency coding variants in ~82 K Europeans via the exome chip, and ~90% of low-frequency non-coding variants in ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.

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Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

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Nature communications 2021年第1期12卷 2986页

作者： Juliette Coignard Michael Lush Jonathan Beesley Tracy A O'Mara Joe Dennis Jonathan P Tyrer Daniel R Barnes Lesley McGuffog Goska Leslie Manjeet K Bolla Muriel A Adank Simona Agata Thomas Ahearn Kristiina Aittomäki Irene L Andrulis Hoda Anton-Culver Volker Arndt Norbert Arnold Kristan J Aronson Banu K Arun Annelie Augustinsson Jacopo Azzollini Daniel Barrowdale Caroline Baynes Heko Becher Marina Bermisheva Leslie Bernstein Katarzyna Białkowska Carl Blomqvist Stig E Bojesen Bernardo Bonanni Ake Borg Hiltrud Brauch Hermann Brenner Barbara Burwinkel Saundra S Buys Trinidad Caldés Maria A Caligo Daniele Campa Brian D Carter Jose E Castelao Jenny Chang-Claude Stephen J Chanock Wendy K Chung Kathleen B M Claes Christine L Clarke J Margriet Collée Don M Conroy Kamila Czene Mary B Daly Peter Devilee Orland Diez Yuan Chun Ding Susan M Domchek Thilo Dörk Isabel Dos-Santos-Silva Alison M Dunning Miriam Dwek Diana M Eccles A Heather Eliassen Christoph Engel Mikael Eriksson D Gareth Evans Peter A Fasching Henrik Flyger Florentia Fostira Eitan Friedman Lin Fritschi Debra Frost Manuela Gago-Dominguez Susan M Gapstur Judy Garber Vanesa Garcia-Barberan Montserrat García-Closas José A García-Sáenz Mia M Gaudet Simon A Gayther Andrea Gehrig Vassilios Georgoulias Graham G Giles Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Mark H Greene Pascal Guénel Lothar Haeberle Eric Hahnen Christopher A Haiman Niclas Håkansson Per Hall Ute Hamann Patricia A Harrington Steven N Hart Wei He Frans B L Hogervorst Antoinette Hollestelle John L Hopper Darling J Horcasitas Peter J Hulick David J Hunter Evgeny N Imyanitov Agnes Jager Anna Jakubowska Paul A James Uffe Birk Jensen Esther M John Michael E Jones Rudolf Kaaks Pooja Middha Kapoor Beth Y Karlan Renske Keeman Elza Khusnutdinova Johanna I Kiiski Yon-Dschun Ko Veli-Matti Kosma Peter Kraft Allison W Kurian Yael Laitman Diether Lambrechts Loic Le Marchand Jenny Lester Fabienne Lesueur Tricia Lindstrom Adria Lopez-Fernández Jennifer T Loud Craig Luccarini Arto Mannermaa Siranou Genetic Epidemiology of Cancer team Inserm U900 Paris France. Institut Curie Paris Paris France. Mines ParisTech Fontainebleau Paris France. Centre for Cancer Genetic Epidemiology Department of Public Health and Primary Care University of Cambridge Cambridge UK. PSL University Paris Paris France. Paris Sud University Orsay France. Department of Genetics and Computational Biology QIMR Berghofer Medical Research Institute Brisbane QLD Australia. Centre for Cancer Genetic Epidemiology Department of Oncology University of Cambridge Cambridge UK. Family Cancer Clinic The Netherlands Cancer Institute Antoni van Leeuwenhoek hospital Amsterdam The Netherlands. Immunology and Molecular Oncology Unit Veneto Institute of Oncology IOV - IRCCS Padua Italy. Division of Cancer Epidemiology and Genetics National Cancer Institute National Institutes of Health Department of Health and Human Services Bethesda MD USA. Department of Clinical Genetics Helsinki University Hospital University of Helsinki Helsinki Finland. Fred A. Litwin Center for Cancer Genetics Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital Toronto ON Canada. Department of Molecular Genetics University of Toronto Toronto ON Canada. Department of Epidemiology Genetic Epidemiology Research Institute University of California Irvine Irvine CA USA. Division of Clinical Epidemiology and Aging Research German Cancer Research Center (DKFZ) Heidelberg Germany. Department of Gynaecology and Obstetrics University Hospital of Schleswig-Holstein Campus Kiel Christian-Albrechts University Kiel Kiel Germany. Institute of Clinical Molecular Biology University Hospital of Schleswig-Holstein Campus Kiel Christian-Albrechts University Kiel Kiel Germany. Department of Public Health Sciences and Cancer Research Institute Queen's University Kingston ON Canada. Department of Breast Medical Oncology University of Texas MD Anderson Cancer Center Houston TX USA. Department of Cancer Epidemiology Clinical Sciences

A Correction to this paper has been published: https://***/10.1038/s41467-021-23162-4.

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