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Publisher Correction: Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability

Nature communications 2021年第1期12卷 995页

作者： Vasiliki Lagou Reedik Mägi Jouke- Jan Hottenga Harald Grallert John R B Perry Nabila Bouatia-Naji Letizia Marullo Denis Rybin Rick Jansen Josine L Min Antigone S Dimas Anna Ulrich Liudmila Zudina Jesper R Gådin Longda Jiang Alessia Faggian Amélie Bonnefond Joao Fadista Maria G Stathopoulou Aaron Isaacs Sara M Willems Pau Navarro Toshiko Tanaka Anne U Jackson May E Montasser Jeff R O'Connell Lawrence F Bielak Rebecca J Webster Richa Saxena Jeanette M Stafford Beate St Pourcain Nicholas J Timpson Perttu Salo So-Youn Shin Najaf Amin Albert V Smith Guo Li Niek Verweij Anuj Goel Ian Ford Paul C D Johnson Toby Johnson Karen Kapur Gudmar Thorleifsson Rona J Strawbridge Laura J Rasmussen-Torvik Tõnu Esko Evelin Mihailov Tove Fall Ross M Fraser Anubha Mahajan Stavroula Kanoni Vilmantas Giedraitis Marcus E Kleber Günther Silbernagel Julia Meyer Martina Müller-Nurasyid Andrea Ganna Antti-Pekka Sarin Loic Yengo Dmitry Shungin Jian'an Luan Momoko Horikoshi Ping An Serena Sanna Yvonne Boettcher N William Rayner Ilja M Nolte Tatijana Zemunik Erik van Iperen Peter Kovacs Nicholas D Hastie Sarah H Wild Stela McLachlan Susan Campbell Ozren Polasek Olga Carlson Josephine Egan Wieland Kiess Gonneke Willemsen Johanna Kuusisto Markku Laakso Maria Dimitriou Andrew A Hicks Rainer Rauramaa Stefania Bandinelli Barbara Thorand Yongmei Liu Iva Miljkovic Lars Lind Alex Doney Markus Perola Aroon Hingorani Mika Kivimaki Meena Kumari Amanda J Bennett Christopher J Groves Christian Herder Heikki A Koistinen Leena Kinnunen Ulf de Faire Stephan J L Bakker Matti Uusitupa Colin N A Palmer J Wouter Jukema Naveed Sattar Anneli Pouta Harold Snieder Eric Boerwinkle James S Pankow Patrik K Magnusson Ulrika Krus Chiara Scapoli Eco J C N de Geus Matthias Blüher Bruce H R Wolffenbuttel Michael A Province Goncalo R Abecasis James B Meigs G Kees Hovingh Jaana Lindström James F Wilson Alan F Wright George V Dedoussis Stefan R Bornstein Peter E H Schwarz Anke Tönjes Bernhard R Winkelmann Bernhard O Boehm Winfried März Andres Metspalu Jackie F Price Panos Delouk Wellcome Centre for Human Genetics University of Oxford Oxford UK. Department of Microbiology and Immunology Laboratory of Adaptive Immunity KU Leuven Leuven Belgium. VIB-KU Leuven Center for Brain and Disease Research Leuven Belgium. Estonian Genome Centre Institute of Genomics University of Tartu Tartu Estonia. Department of Biological Psychology Vrije Universiteit Amsterdam The Netherlands. Amsterdam Public Health Research Institute VU University medical center Amsterdam The Netherlands. Research Unit of Molecular Epidemiology Institute of Epidemiology Helmholtz Zentrum München Research Center for Environmental Health Neuherberg Germany. German Center for Diabetes Research (DZD München-Neuherberg Germany. MRC Epidemiology Unit University of Cambridge School of Clinical Medicine Cambridge UK. University of Lille Nord de France Lille France. CNRS UMR8199 Institut Pasteur de Lille Lille France. INSERM U970 Paris Cardiovascular Research Center PARCC 75006 Paris France. Department of Life Sciences and Biotechnology University of Ferrara Ferrara Italy. Boston University Data Coordinating Center Boston MA USA. Department of Psychiatry VU University Medical Center Amsterdam The Netherlands. MRC Integrative Epidemiology Unit University of Bristol Bristol UK. Bristol Medical School University of Bristol Bristol UK. Institute for Bioinnovation Biomedical Sciences Research Center Al. Fleming Vari Greece. Department of Medicine Imperial College London London UK. Cardiovascular Medicine Unit Center for Molecular Medicine Department of Medicine Karolinska Institutet Stockholm Karolinska University Hospital Solna Sweden. Institute for Molecular Bioscience The University of Queensland Brisbane QLD 4072 Australia. Department of Epidemiology Research Statens Serum Institut Copenhagen Denmark. Université de Lorraine IGE-PCV F-54000 Nancy France. Genetic Epidemiology Unit Department of Epidemiology Erasmus Medical Center Rotterdam the Netherlands. CAR

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Genetic mechanisms of critical illness in Covid-19

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四川生理科学杂志 2020年第4期42卷 455-455页

作者： Erola Pairo-Castineira Roslin Institute University of Edinburgh Edinburgh UK MRC Human Genetics Unit Institute of Genetics and Molecular Medicine University of Edinburgh Western General Hospital Edinburgh UK Genomics England London UK Centre for Inflammation Research The Queen’s Medical Research Institute University of Edinburgh Edinburgh UK Centre for Genomic and Experimental Medicine Institute of Genetics and Molecular Medicine University of Edinburgh Western General Hospital Edinburgh UK Edinburgh Clinical Research Facility Western General Hospital University of Edinburgh Edinburgh UK Intensive Care National Audit & Research Centre London UK Institute for Molecular Bioscience The University of Queensland Brisbane Queensland Australia Biostatistics Group School of Life Sciences Sun Yat-sen University Guangzhou China The Crick Institute London UK Intensive Care Unit Royal Infirmary of Edinburgh Edinburgh UK School of Life Sciences Westlake University Hangzhou China Westlake Laboratory of Life Sciences and Biomedicine Hangzhou China Wellcome Centre for Human Genetics University of Oxford Oxford UK Department of Medicine University of Cambridge Cambridge UK Department of Intensive Care Medicine Guy’s and St Thomas’ NHS Foundation Trust London UK School of Immunology and Microbial Sciences King’s College London London UK NIHR Health Protection Research Unit for Emerging and Zoonotic Infections Institute of Infection Veterinary and Ecological Sciences University of Liverpool Liverpool UK MRC-University of Glasgow Centre for Virus Research Institute of Infection Immunity and Inflammation College of Medical Veterinary and Life Sciences University of Glasgow Glasgow UK William Harvey Research Institute Barts and the London School of Medicine and Dentistry Queen Mary University of London London UK Centre for Tropical Medicine and Global Health Nuffield Department of Medicine University of Oxford Oxford UK Clinical Research Centre at St Vincent’s University Hospital Un

Host-mediated lung inflammation is present,1 and drives mortality,2 in critical illness caused by *** genetic variants associated with critical illness may identify mechanistic targets for therapeutic development.3 Here we report the results of the GenOMICC(Genetics Of Mortality In Critical Care)genome-wide association study(GWAS)in 2244 critically ill Covid-19 patients from 208 UK intensive care units(ICUs).We identify and replicate novel genome-wide significant associations,on chr12q24.13(rs10735079,p=1.65[Formula:see text]10-8)in a gene cluster encoding antiviral restriction enzyme activators(OAS1,OAS2,OAS3),on chr19p13.2(rs2109069,p=2.3[Formula:see text]10-12)near the gene encoding tyrosine kinase 2(TYK2),on chr19p13.3(rs2109069,p=3.98[Formula:see text]10-12)within the gene encoding dipeptidyl peptidase 9(DPP9),and on chr21q22.1(rs2236757,p=4.99[Formula:see text]10-8)in the interferon receptor gene *** identify potential targets for repurposing of licensed medications:using Mendelian randomisation we found evidence in support of a causal link from low expression of IFNAR2,and high expression of TYK2,to life-threatening disease;transcriptome-wide association in lung tissue revealed that high expression of the monocyte/macrophage chemotactic receptor CCR2 is associated with severe *** results identify robust genetic signals relating to key host antiviral defence mechanisms,and mediators of inflammatory organ damage in *** mechanisms may be amenable to targeted treatment with existing ***-scale randomised clinical trials will be essential before any change to clinical practice.

关键词： lung drugs critical

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Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

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Nature genetics 2019年第7期51卷 1192-1193页

作者： Rainer Malik Ganesh Chauhan Matthew Traylor Muralidharan Sargurupremraj Yukinori Okada Aniket Mishra Loes Rutten-Jacobs Anne-Katrin Giese Sander W van der Laan Solveig Gretarsdottir Christopher D Anderson Michael Chong Hieab H H Adams Tetsuro Ago Peter Almgren Philippe Amouyel Hakan Ay Traci M Bartz Oscar R Benavente Steve Bevan Giorgio B Boncoraglio Robert D Brown Adam S Butterworth Caty Carrera Cara L Carty Daniel I Chasman Wei-Min Chen John W Cole Adolfo Correa Ioana Cotlarciuc Carlos Cruchaga John Danesh Paul I W de Bakker Anita L DeStefano Marcel den Hoed Qing Duan Stefan T Engelter Guido J Falcone Rebecca F Gottesman Raji P Grewal Vilmundur Gudnason Stefan Gustafsson Jeffrey Haessler Tamara B Harris Ahamad Hassan Aki S Havulinna Susan R Heckbert Elizabeth G Holliday George Howard Fang-Chi Hsu Hyacinth I Hyacinth M Arfan Ikram Erik Ingelsson Marguerite R Irvin Xueqiu Jian Jordi Jiménez-Conde Julie A Johnson J Wouter Jukema Masahiro Kanai Keith L Keene Brett M Kissela Dawn O Kleindorfer Charles Kooperberg Michiaki Kubo Leslie A Lange Carl D Langefeld Claudia Langenberg Lenore J Launer Jin-Moo Lee Robin Lemmens Didier Leys Cathryn M Lewis Wei-Yu Lin Arne G Lindgren Erik Lorentzen Patrik K Magnusson Jane Maguire Ani Manichaikul Patrick F McArdle James F Meschia Braxton D Mitchell Thomas H Mosley Michael A Nalls Toshiharu Ninomiya Martin J O'Donnell Bruce M Psaty Sara L Pulit Kristiina Rannikmäe Alexander P Reiner Kathryn M Rexrode Kenneth Rice Stephen S Rich Paul M Ridker Natalia S Rost Peter M Rothwell Jerome I Rotter Tatjana Rundek Ralph L Sacco Saori Sakaue Michele M Sale Veikko Salomaa Bishwa R Sapkota Reinhold Schmidt Carsten O Schmidt Ulf Schminke Pankaj Sharma Agnieszka Slowik Cathie L M Sudlow Christian Tanislav Turgut Tatlisumak Kent D Taylor Vincent N S Thijs Gudmar Thorleifsson Unnur Thorsteinsdottir Steffen Tiedt Stella Trompet Christophe Tzourio Cornelia M van Duijn Matthew Walters Nicholas J Wareham Sylvia Wassertheil-Smoller James G Wilson Kerri L Wiggins Qiong Yang Salim Yusuf Joshua C Bis Tomi Institute for Stroke and Dementia Research (ISD) University Hospital LMU Munich Munich Germany. Centre for Brain Research Indian Institute of Science Bangalore India. INSERM U1219 Bordeaux Population Health Research Center University of Bordeaux Bordeaux France. Stroke Research Group Division of Clinical Neurosciences University of Cambridge Cambridge UK. Department of Neurology Institute for Neurodegenerative Disease Bordeaux University Hospital Bordeaux France. Laboratory for Statistical Analysis RIKEN Center for Integrative Medical Sciences Yokohama Japan. Department of Statistical Genetics Osaka University Graduate School of Medicine Osaka Japan. Laboratory of Statistical Immunology Immunology Frontier Research Center (WPI-IFReC) Osaka University Suita Japan. Department of Neurology Massachusetts General Hospital (MGH) Harvard Medical School Boston MA USA. Laboratory of Experimental Cardiology Department of Cardiology Division of Heart and Lungs University Medical Center Utrecht University of Utrecht Utrecht the Netherlands. deCODE genetics/AMGEN Inc. Reykjavik Iceland. Center for Genomic Medicine MGH Boston MA USA. J. Philip Kistler Stroke Research Center Department of Neurology MGH Boston MA USA. Program in Medical and Population Genetics Broad Institute Cambridge MA USA. Population Health Research Institute McMaster University Hamilton Ontario Canada. Department of Epidemiology Erasmus University Medical Center Rotterdam the Netherlands. Department of Radiology and Nuclear Medicine Erasmus University Medical Center Rotterdam the Netherlands. Department of Medicine and Clinical Science Graduate School of Medical Sciences Kyushu University Fukuoka Japan. Department of Clinical Sciences Lund University Malmö Sweden. INSERM Institut Pasteur de Lille LabEx DISTALZ-UMR1167 Risk Factors and Molecular Determinants of Aging-Related Diseases Université Lille Lille France. Centre Hospitalier Université Lille Epidemiology and Public Health D

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: Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function

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Nature communications 2019年第1期10卷 2068页

作者： Gail Davies Max Lam Sarah E Harris Joey W Trampush Michelle Luciano W David Hill Saskia P Hagenaars Stuart J Ritchie Riccardo E Marioni Chloe Fawns-Ritchie David C M Liewald Judith A Okely Ari V Ahola-Olli Catriona L K Barnes Lars Bertram Joshua C Bis Katherine E Burdick Andrea Christoforou Pamela DeRosse Srdjan Djurovic Thomas Espeseth Stella Giakoumaki Sudheer Giddaluru Daniel E Gustavson Caroline Hayward Edith Hofer M Arfan Ikram Robert Karlsson Emma Knowles Jari Lahti Markus Leber Shuo Li Karen A Mather Ingrid Melle Derek Morris Christopher Oldmeadow Teemu Palviainen Antony Payton Raha Pazoki Katja Petrovic Chandra A Reynolds Muralidharan Sargurupremraj Markus Scholz Jennifer A Smith Albert V Smith Natalie Terzikhan Anbupalam Thalamuthu Stella Trompet Sven J van der Lee Erin B Ware B Gwen Windham Margaret J Wright Jingyun Yang Jin Yu David Ames Najaf Amin Philippe Amouyel Ole A Andreassen Nicola J Armstrong Amelia A Assareh John R Attia Deborah Attix Dimitrios Avramopoulos David A Bennett Anne C Böhmer Patricia A Boyle Henry Brodaty Harry Campbell Tyrone D Cannon Elizabeth T Cirulli Eliza Congdon Emily Drabant Conley Janie Corley Simon R Cox Anders M Dale Abbas Dehghan Danielle Dick Dwight Dickinson Johan G Eriksson Evangelos Evangelou Jessica D Faul Ian Ford Nelson A Freimer He Gao Ina Giegling Nathan A Gillespie Scott D Gordon Rebecca F Gottesman Michael E Griswold Vilmundur Gudnason Tamara B Harris Annette M Hartmann Alex Hatzimanolis Gerardo Heiss Elizabeth G Holliday Peter K Joshi Mika Kähönen Sharon L R Kardia Ida Karlsson Luca Kleineidam David S Knopman Nicole A Kochan Bettina Konte John B Kwok Stephanie Le Hellard Teresa Lee Terho Lehtimäki Shu-Chen Li Christina M Lill Tian Liu Marisa Koini Edythe London Will T Longstreth Oscar L Lopez Anu Loukola Tobias Luck Astri J Lundervold Anders Lundquist Leo-Pekka Lyytikäinen Nicholas G Martin Grant W Montgomery Alison D Murray Anna C Need Raymond Noordam Lars Nyberg William Ollier Goran Papenberg Alison Pattie Ozren Polasek Russell A Poldrack Bruce M Psaty Sim Centre for Cognitive Ageing and Cognitive Epidemiology Department of Psychology School of Philosophy Psychology and Language Sciences The University of Edinburgh Edinburgh EH8 9JZ UK. Institute of Mental Health Singapore 539747 Singapore. Medical Genetics Section Centre for Genomic & Experimental Medicine MRC Institute of Genetics & Molecular Medicine University of Edinburgh Western General Hospital Edinburgh EH4 2XU UK. BrainWorkup LLC Los Angeles 90033 CA USA. Department of Psychiatry and Behavioral Sciences Keck School of Medicine University of Southern California Los Angeles 90033 CA USA. Social Genetic and Developmental Psychiatry Centre Institute of Psychiatry Psychology & Neuroscience King's College London De Crespigny Park Denmark Hill London SE5 8AF UK. Research Centre of Applied and Preventive Cardiovascular Medicine University of Turku Turku 20520 Finland. Department of Internal Medicine Satakunta Central Hospital Pori 28100 Finland. Centre for Global Health Research Usher Institute of Population Health Sciences and Informatics University of Edinburgh Teviot Place Edinburgh EH8 9AG Scotland. Max Planck Institute for Molecular Genetics Berlin 14195 Germany. Cardiovascular Health Research Unit Department of Medicine University of Washington Seattle 98101 Washington USA. Department of Psychiatry Icahn School of Medicine at Mount Sinai New York 10029 NY USA. Mental Illness Research Education and Clinical Center (VISN 3) James J. Peters VA Medical Center Bronx 10468 NY USA. Department of Psychiatry Brigham and Women's Hospital Harvard Medical School Boston 02115 MA USA. NORMENT K.G. Jebsen Centre for Psychosis Research Department of Clinical Science University of Bergen Bergen 5021 Norway. Dr. Einar Martens Research Group for Biological Psychiatry Center for Medical Genetics and Molecular Medicine Haukeland University Hospital Bergen 5020 Norway. Center for Psychiatric Neuroscience Feinstein Institute for Medical Resea

Christina M. Lill, who contributed to analysis of data, was inadvertently omitted from the author list in the originally published version of this article. This has now been corrected in both the PDF and HTML versions...

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Highlights from the 11th ISCB Student Council Symposium 2015. Dublin, Ireland. 10 July 2015

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BMC bioinformatics 2016年第3期17 Suppl 3卷 95页

作者： Katie Wilkins Mehedi Hassan Margherita Francescatto Jakob Jespersen R. Gonzalo Parra Bart Cuypers Dan DeBlasio Alexander Junge Anupama Jigisha Farzana Rahman Griet Laenen Sander Willems Lieven Thorrez Yves Moreau Nagarajan Raju Sonia Pankaj Chothani C. Ramakrishnan Masakazu Sekijima M. Michael Gromiha Paddy J Slator Nigel J Burroughs Przemysław Szałaj Zhonghui Tang Paul Michalski Oskar Luo Xingwang Li Yijun Ruan Dariusz Plewczynski Giulia Fiscon Emanuel Weitschek Massimo Ciccozzi Paola Bertolazzi Giovanni Felici Pieter Meysman Manu Vanaerschot Maya Berg Hideo Imamura Jean-Claude Dujardin Kris Laukens Westa Domanova James R. Krycer Rima Chaudhuri Pengyi Yang Fatemeh Vafaee Daniel J. Fazakerley Sean J. Humphrey David E. James Zdenka Kuncic Plant Pathology and Plant-Microbe Biology Section School of Integrative Plant Science Cornell University Ithaca USA Graduate Field of Computational Biology Cornell University Ithaca USA School of Computing & Mathematics University of South Wales Cardiff UK Department of Genome Biology for Neurodegenerative Diseases German Center for Neurodegenerative Diseases (DZNE) within the Helmholtz Association ᅟ Germany Department of Surgery Massachusetts General Hospital The Broad Institute of MIT and Harvard Boston USA Department of Systems Biology Technical University of Denmark Kemitorvet Denmark Protein Physiology Lab Facultad de Ciencias Exactas y Naturales Universidad de Buenos Aires Buenos Aires Argentina Molecular Parasitology Unit (MPU) Institute of Tropical Medicine Antwerp Belgium Advanced Database Research and Modeling (ADReM) research group University of Antwerp Antwerpen Belgium Department of Computer Science University of Arizona Tucson USA Department of Veterinary Clinical and Animal Sciences Center for non-coding RNA in Technology and Health University of Copenhagen Copenhagen Denmark University College Dublin Dublin Ireland Department of Electrical Engineering (ESAT) STADIUS Center for Dynamical Systems Signal Processing and Data Analytics KU Leuven Leuven Belgium Minds Medical IT Department Leuven Belgium Scientific Institute of Public Health (WIV-ISP) Platform of Biotechnology and Molecular Biology (PBB) Brussels Belgium Department of Development and Regeneration @ Kulak KU Leuven Kortrijk Belgium Department of Biotechnology Bhupat and Jyoti Metha School of Biosciences Indian Institute of Technology Madras Chennai India Philips Research North America Briarcliff Manor USA Global Scientific Information and Computing Center (GSIC) Tokyo Institute of Technology Tokyo Japan Systems Biology Centre University of Warwick Senate House Coventry UK Systems Biology Doctoral Training Centre University of Warwick Senate House Coventry UK Center for B

A1 Highlights from the eleventh ISCB Student Council Symposium 2015 Katie Wilkins, Mehedi Hassan, Margherita Francescatto, Jakob Jespersen, R. Gonzalo Parra, Bart Cuypers, Dan DeBlasio, Alexander Junge, Anupama Jigisha, Farzana Rahman O1 Prioritizing a drug’s targets using both gene expression and structural similarity Griet Laenen, Sander Willems, Lieven Thorrez, Yves Moreau O2 Organism specific protein-RNA recognition: A computational analysis of protein-RNA complex structures from different organisms Nagarajan Raju, Sonia Pankaj Chothani, C. Ramakrishnan, Masakazu Sekijima; M. Michael Gromiha O3 Detection of Heterogeneity in Single Particle Tracking Trajectories Paddy J Slator, Nigel J Burroughs O4 3D-NOME: 3D NucleOme Multiscale Engine for data-driven modeling of three-dimensional genome architecture Przemysław Szałaj, Zhonghui Tang, Paul Michalski, Oskar Luo, Xingwang Li, Yijun Ruan, Dariusz Plewczynski O5 A novel feature selection method to extract multiple adjacent solutions for viral genomic sequences classification Giulia Fiscon, Emanuel Weitschek, Massimo Ciccozzi, Paola Bertolazzi, Giovanni Felici O6 A Systems Biology Compendium for Leishmania donovani Bart Cuypers, Pieter Meysman, Manu Vanaerschot, Maya Berg, Hideo Imamura, Jean-Claude Dujardin, Kris Laukens O7 Unravelling signal coordination from large scale phosphorylation kinetic data Westa Domanova, James R. Krycer, Rima Chaudhuri, Pengyi Yang, Fatemeh Vafaee, Daniel J. Fazakerley, Sean J. Humphrey, David E. James, Zdenka Kuncic

关键词： Visceral Leishmaniasis Feature Selection Method Frequent Itemset Mining Leishmania Donovani Student Council

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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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The All of Us data and Research Center: Creating a Secure, Scalable, and Sustainable Ecosystem for biomedical Research

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biomedical data science 1000年第1期6卷 443-464页

作者： Kelsey R. Mayo Melissa A. Basford Robert J. Carroll Moira Dillon Heather Fullen Jesse Leung Hiral Master Shimon Rura Lina Sulieman Nan Kennedy Eric Banks David Bernick Asmita Gauchan Lee Lichtenstein Brandy M. Mapes Kayla Marginean Steve L. Nyemba Andrea Ramirez Charissa Rotundo Keri Wolfe Weiyi Xia Romuladus E. Azuine Robert M. Cronin Joshua C. Denny Abel Kho Christopher Lunt Bradley Malin Karthik Natarajan Consuelo H. Wilkins Hua Xu George Hripcsak Dan M. Roden Anthony A. Philippakis David Glazer Paul A. Harris 1Vanderbilt Institute for Clinical and Translational Research Vanderbilt University Medical Center Nashville Tennessee USA 2Deparment of Biomedical Informatics Vanderbilt University Medical Center Nashville Tennessee USA email: paul.a.harris@*** 3Verily Life Sciences South San Francisco California USA 4Data Sciences Platform Broad Institute of Harvard and MIT Cambridge Massachusetts USA 5Broad Institute of Harvard and MIT Cambridge Massachusetts USA 6The All of Us Research Program National Institutes of Health Bethesda Maryland USA 7Vanderbilt University Medical Center Enterprise Cybersecurity Vanderbilt University Medical Center Nashville Tennessee USA 8Department of Internal Medicine The Ohio State University Columbus Ohio USA 9Department of Medicine and Institute for Augmented Intelligence in Medicine Feinberg School of Medicine Northwestern University Chicago Illinois USA 10Department of Biomedical Informatics Columbia University New York NY USA 11Department of Medicine Vanderbilt University Medical Center Nashville Tennessee USA 12Section of Biomedical Informatics and Data Science School of Medicine Yale University New Haven Connecticut USA 13Department of Pharmacology Vanderbilt University Medical Center Nashville Tennessee USA

The All of Us Research Program's data and Research Center (DRC) was established to help acquire, curate, and provide access to one of the world's largest and most diverse datasets for precision medicine research. Already, over 500,000 participants are enrolled in All of Us, 80% of whom are underrepresented in biomedical research, and data are being analyzed by a community of over 2,300 researchers. The DRC created this thriving data ecosystem by collaborating with engaged participants, innovative program partners, and empowered researchers. In this review, we first describe how the DRC is organized to meet the needs of this broad group of stakeholders. We then outline guiding principles, common challenges, and innovative approaches used to build the All of Us data ecosystem. Finally, we share lessons learned to help others navigate important decisions and trade-offs in building a modern biomedical data platform.

关键词： precision medicine data ecosystem diversity data privacy data integration electronic health records

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