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

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 systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis

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Nature communications 2019年第1期10卷 2956页

作者： Lohith Madireddy Kicheol Kim Xiaoming Jia Adam Santaniello Stacy J. Caillier Bruce A. C. Cree Roland Henry Stephen L. Hauser Jorge R. Oksenberg Sergio E. Baranzini Nikolaos A. Patsopoulos Philip De Jager Chris Cotsapas Matthew R. Lincoln David A. Hafler Steffan D. Bos Hanne F. Harbo Tone Berge Elisabeth G. Celius Ashley Beecham Jacob McCauley Margaret A. Pericak-Vance Till F. M. Andlauer Christiane Gasperi Bernhard Hemmer Lisa F. Barcellos Luisa Bernardinelli Filippo Martinelli-Boneschi David R. Booth Graeme J. Stewart Farren Briggs Jonathan Haines Manuel Comabella Giancarlo Comi Federica Esposito Sandra D’Alfonso Katrina Dedham Pierre Duquette Efthimios Dardiotis Bertrand Fontaine An Goris Bénédicte Dubois Pierre-Antoine Gourraud Georgios Hadjigeorgiou Clive Hawkins Seema Kalra Rogier Hintzen Dana Horakova Noriko Isobe Jun-ichi Kira Michael Khalil Ingrid Kockum Tomas Olsson Christina M. Lill Felix Luessi Frauke Zipp Roland Martin Annette Oturai Aarno Palotie Janna Saarela Adrian Ivinson Bruce V. Taylor Alastair Compston Stephen Sawcer Weill Institute for Neurosciences Department of Neurology University of California San Francisco San Francisco CA 94158 USA Bakar Institute for Computational Health Science. University of California San Francisco San Francisco CA 94158 USA Systems Biology and Computer Science Program Ann Romney Center for Neurological Diseases Department of Neurology and Division of Genetics Department of Medicine Brigham & Women’s Hospital Harvard Medical School Boston MA 02115 USA Broad Institute of Harvard University and Massachusetts Institute of Technology Cambridge MA 02142 USA Department of Neurology Center for Translational and Computational Neuroimmunology and Multiple Sclerosis Center Columbia University Medical Center New York NY 10032 USA Departments of Neurology Yale School of Medicine 300 George St New Haven CT 06511 USA Department of Genetics Yale School of Medicine 300 George St New Haven CT 06511 USA Institute of Clinical Medicine University of Oslo Oslo 0318 Norway Department of Neurology Oslo University Hospital Oslo 0424 Norway Department of Mechanical Electronics and Chemical Engineering Oslo Metropolitan University Oslo 0167 Norway Institute of Health and Society University of Oslo Oslo 0318 Norway John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine Miami FL 33136 USA Dr. John T. Macdonald Foundation Department of Human Genetics University of Miami Miller School of Medicine Miami FL 33136 USA Department of Neurology Klinikum rechts der Isar School of Medicine Technical University of Munich 81675 Munich Germany Munich Cluster for Systems Neurology (SyNergy) 81377 Munich Germany Division of Epidemiology School of Public HealthUniversity of California 324 Stanley Hall MC#3220 Berkeley CA 94720 USA Section of Biostatistics Neurophyisiology and Psychiatry Unit of medical and genomic statistics Universita of Pavia Pavia 27100 Italy Department of Biomedical Sciences for Health Univers

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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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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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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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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