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Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

Nature communications 2023年第1期14卷 716页

作者： Itziar de Rojas Sonia Moreno-Grau Niccolo Tesi Benjamin Grenier-Boley Victor Andrade Iris E Jansen Nancy L Pedersen Najada Stringa Anna Zettergren Isabel Hernández Laura Montrreal Carmen Antúnez Anna Antonell Rick M Tankard Joshua C Bis Rebecca Sims Céline Bellenguez Inés Quintela Antonio González-Perez Miguel Calero Emilio Franco-Macías Juan Macías Rafael Blesa Laura Cervera-Carles Manuel Menéndez-González Ana Frank-García Jose Luís Royo Fermin Moreno Raquel Huerto Vilas Miquel Baquero Mónica Diez-Fairen Carmen Lage Sebastián García-Madrona Pablo García-González Emilio Alarcón-Martín Sergi Valero Oscar Sotolongo-Grau Abbe Ullgren Adam C Naj Afina W Lemstra Alba Benaque Alba Pérez-Cordón Alberto Benussi Alberto Rábano Alessandro Padovani Alessio Squassina Alexandre de Mendonça Alfonso Arias Pastor Almar A L Kok Alun Meggy Ana Belén Pastor Ana Espinosa Anaïs Corma-Gómez Angel Martín Montes Ángela Sanabria Anita L DeStefano Anja Schneider Annakaisa Haapasalo Anne Kinhult Ståhlbom Anne Tybjærg-Hansen Annette M Hartmann Annika Spottke Arturo Corbatón-Anchuelo Arvid Rongve Barbara Borroni Beatrice Arosio Benedetta Nacmias Børge G Nordestgaard Brian W Kunkle Camille Charbonnier Carla Abdelnour Carlo Masullo Carmen Martínez Rodríguez Carmen Muñoz-Fernandez Carole Dufouil Caroline Graff Catarina B Ferreira Caterina Chillotti Chandra A Reynolds Chiara Fenoglio Christine Van Broeckhoven Christopher Clark Claudia Pisanu Claudia L Satizabal Clive Holmes Dolores Buiza-Rueda Dag Aarsland Dan Rujescu Daniel Alcolea Daniela Galimberti David Wallon Davide Seripa Edna Grünblatt Efthimios Dardiotis Emrah Düzel Elio Scarpini Elisa Conti Elisa Rubino Ellen Gelpi Eloy Rodriguez-Rodriguez Emmanuelle Duron Eric Boerwinkle Evelyn Ferri Fabrizio Tagliavini Fahri Küçükali Florence Pasquier Florentino Sanchez-Garcia Francesca Mangialasche Frank Jessen Gaël Nicolas Geir Selbæk Gemma Ortega Geneviève Chêne Georgios Hadjigeorgiou Giacomina Rossi Gianfranco Spalletta Giorgio Giaccone Giulia Grande Giuliano Binetti Goran Papenberg Harald Hampel Research Center and Memory clinic Fundació ACE Institut Català de Neurociències Aplicades Universitat Internacional de Catalunya Barcelona Spain. CIBERNED Network Center for Biomedical Research in Neurodegenerative Diseases National Institute of Health Carlos III Madrid Spain. Alzheimer Center Amsterdam Department of Neurology Amsterdam Neuroscience Vrije Universiteit Amsterdam Amsterdam UMC Amsterdam The Netherlands. Section Genomics of Neurodegenerative Diseases and Aging Department of Clinical Genetics Vrije Universiteit Amsterdam Amsterdam UMC Amsterdam The Netherlands. Delft Bioinformatics Lab Delft Univeristy of Technology Delft The Netherlands. Univ. Lille Inserm Institut Pasteur de Lille CHU Lille U1167-Labex DISTALZ-RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases Lille France. Division of Neurogenetics and Molecular Psychiatry Department of Psychiatry and Psychotherapy University of Cologne Medical Faculty Cologne Germany. Department of Neurodegenerative diseases and Geriatric Psychiatry University Clinic Bonn Bonn Germany. Department of Complex Trait Genetics Center for Neurogenomics and Cognitive Research Amsterdam Neuroscience VU University Amsterdam The Netherlands. Department of Medical Epidemiology and Biostatistics Karolinska Institutet Stockholm Sweden. Amsterdam UMC-Vrije Universiteit Amsterdam Department of Epidemiology and Data Science Amsterdam Public Health Research Institute Amsterdam The Netherlands. Neuropsychiatric Epidemiology Unit Department of Psychiatry and Neurochemistry Institute of Neuroscience and Physiology Sahlgrenska Academy Centre for Ageing and Health (AgeCap) University of Gothenburg Gothenburg Sweden. Unidad de Demencias Hospital Clínico Universitario Virgen de la Arrixaca Murcia Spain. Alzheimer's disease and other cognitive disorders unit. Service of Neurology Hospital Clínic of Barcelona. Institut d'Investigacions Biomèdiques August Pi i Sunyer University of Barcelona Barcelona Spain

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11th German Conference on Chemoinformatics (GCC 2015) Abstracts

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JOURNAL OF CHEMINFORMATICS 2016年第SUPPL 1期8卷 1-27页

作者： [Anonymous] GDCh-CIC Division Associated Board Member Beilstein-Institut zur Förderung der Chemischen Wissenschaften Trakehner Str. 7-9 60487 Frankfurt Germany. ufechner@beilstein-institut.de. Division Medicinal Chemistry Amsterdam Institute for Molecules Medicines and Systems (AIMMS) VU University Amsterdam The Netherlands. Centre for Bioinformatics Uni Hamburg Bundesstr. 43 20146 Hamburg Germany. Sanofi-Aventis Deutschland GmbH 65926 Frankfurt am Main Germany. stefan.guessregen@***. Sanofi-Aventis Deutschland GmbH 65926 Frankfurt am Main Germany. GlaxoSmithKline Stevenage SG1 2NY UK. nicola.j.richmond@***. Discngine Paris 75011 France. Organisch-Chemisches Institut Westfälische Wilhelms-Universität Münster Germany. marwin.segler@wwu.de. Organisch-Chemisches Institut Westfälische Wilhelms-Universität Münster Germany. Bundeskriminalamt Wiesbaden Central Analytics II 65173 Wiesbaden Germany. Department of Chemistry and Biochemistry University of California Santa Barbara CA 93111 USA. shea@chem.ucsb.edu. Department of Chemistry and Biochemistry University of California Santa Barbara CA 93111 USA. Chemistry Department Ludwig-Maximilians-Universität München Butenandtstr. 7 81377 Munich Germany. Inorganic Chemistry and Center for Nanointegration University of Duisburg-Essen Essen Germany. CAM-D Technologies Essen Germany. Institute for Bioinformatics and Chemoinformatics Westphalian University of Applied Sciences Recklinghausen Germany. Institute for Bioinformatics and Chemoinformatics Westphalian University of Applied Sciences Recklinghausen Germany. achim.zielesny@w-hs.de. Leiden University Leiden Netherlands. j.fraaije@chem.leidenuniv.nl. Culgi BV Berlin Germany. Physikalische Chemie III TU Dortmund 44227 Dortmund Germany. stefan.kast@tu-dortmund.de. Centre for Molecular Informatics Department of Chemistry University of Cambridge Lensfield Road Cambridge CB2 1EW United Kingdom. kcb27@cam.ac.uk. Centre for Molecular Informatics Department of Chemistry

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Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

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Nature genetics 2018年第5期50卷 766-767页

作者： Valérie Turcot Yingchang Lu Heather M Highland Claudia Schurmann Anne E Justice Rebecca S Fine Jonathan P Bradfield Tõnu Esko Ayush Giri Mariaelisa Graff Xiuqing Guo Audrey E Hendricks Tugce Karaderi Adelheid Lempradl Adam E Locke Anubha Mahajan Eirini Marouli Suthesh Sivapalaratnam Kristin L Young Tamuno Alfred Mary F Feitosa Nicholas G D Masca Alisa K Manning Carolina Medina-Gomez Poorva Mudgal Maggie C Y Ng Alex P Reiner Sailaja Vedantam Sara M Willems Thomas W Winkler Gonçalo Abecasis Katja K Aben Dewan S Alam Sameer E Alharthi Matthew Allison Philippe Amouyel Folkert W Asselbergs Paul L Auer Beverley Balkau Lia E Bang Inês Barroso Lisa Bastarache Marianne Benn Sven Bergmann Lawrence F Bielak Matthias Blüher Michael Boehnke Heiner Boeing Eric Boerwinkle Carsten A Böger Jette Bork-Jensen Michiel L Bots Erwin P Bottinger Donald W Bowden Ivan Brandslund Gerome Breen Murray H Brilliant Linda Broer Marco Brumat Amber A Burt Adam S Butterworth Peter T Campbell Stefania Cappellani David J Carey Eulalia Catamo Mark J Caulfield John C Chambers Daniel I Chasman Yii-Der I Chen Rajiv Chowdhury Cramer Christensen Audrey Y Chu Massimiliano Cocca Francis S Collins James P Cook Janie Corley Jordi Corominas Galbany Amanda J Cox David S Crosslin Gabriel Cuellar-Partida Angela D'Eustacchio John Danesh Gail Davies Paul I W Bakker Mark C H Groot Renée Mutsert Ian J Deary George Dedoussis Ellen W Demerath Martin Heijer Anneke I Hollander Hester M Ruijter Joe G Dennis Josh C Denny Emanuele Di Angelantonio Fotios Drenos Mengmeng Du Marie-Pierre Dubé Alison M Dunning Douglas F Easton Todd L Edwards David Ellinghaus Patrick T Ellinor Paul Elliott Evangelos Evangelou Aliki-Eleni Farmaki I Sadaf Farooqi Jessica D Faul Sascha Fauser Shuang Feng Ele Ferrannini Jean Ferrieres Jose C Florez Ian Ford Myriam Fornage Oscar H Franco Andre Franke Paul W Franks Nele Friedrich Ruth Frikke-Schmidt Tessel E Galesloot Wei Gan Ilaria Gandin Paolo Gasparini Jane Gibson Vilmantas Giedraitis Anette P Gjesing Penny Gordon-Larsen Mathias Gorski Hans-Jörgen Montreal Heart Institute Université de Montréal Montreal Quebec Canada. Division of Epidemiology Department of Medicine Vanderbilt-Ingram Cancer Center Vanderbilt Epidemiology Center Vanderbilt University School of Medicine Nashville TN USA. Charles Bronfman Institute for Personalized Medicine Icahn School of Medicine at Mount Sinai New York NY USA. Genetics of Obesity and Related Metabolic Traits Program Icahn School of Medicine at Mount Sinai New York NY USA. Department of Epidemiology University of North Carolina Chapel Hill NC USA. Human Genetics Center University of Texas School of Public Health University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences University of Texas Health Science Center at Houston Houston TX USA. Broad Institute of MIT and Harvard Cambridge MA USA. Department of Genetics Harvard Medical School Boston MA USA. Division of Endocrinology and Center for Basic and Translational Obesity Research Boston Children's Hospital Boston MA USA. Center for Applied Genomics Division of Human Genetics Children's Hospital of Philadelphia Philadelphia PA USA. Quantinuum Research LLC San Diego CA USA. Estonian Genome Center University of Tartu Tartu Estonia. Division of Epidemiology Department of Medicine Institute for Medicine and Public Health Vanderbilt Genetics Institute Vanderbilt University Nashville TN USA. Institute for Translational Genomics and Population Sciences LABioMed at Harbor-UCLA Medical Center Torrance CA USA. Wellcome Trust Sanger Institute Hinxton UK. Department of Mathematical and Statistical Sciences University of Colorado Denver CO USA. Wellcome Trust Centre for Human Genetics University of Oxford Oxford UK. Department of Biological Sciences Faculty of Arts and Sciences Eastern Mediterranean University Famagusta Cyprus. Max Planck Institute of Immunobiology and Epigenetics Freiburg Germany. Department of Biostatistics and Center for Statistical Genetics University of M

In the version of this article originally published, one of the two authors with the name Wei Zhao was omitted from the author list and the affiliations for both authors were assigned to the single Wei Zhao in the author list. In addition, the ORCID for Wei Zhao (Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA) was incorrectly assigned to author Wei Zhou. The errors have been corrected in the HTML and PDF versions of the article.

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Methods for Evaluating Medical Tests and Biomarkers

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Diagnostic and Prognostic Research 2017年第1期1卷 1-34页

作者： Gowri Gopalakrishna Miranda Langendam Patrick Bossuyt Mariska Leeflang Rob Scholten Anna Noel-Storr James Thomas Iain Marshall Byron Wallace Penny Whiting Clare Davenport Gowri GopalaKrishna Isabel de Salis Sue Mallett Robert Wolff Marie Westwood Jos Kleinen Richard Riley Gary Collins Hans Reitsma Karel Moons Antonia Zapf Katharina Kramer Annika Hoyer Oliver Kuss J. Ensor R. D. Riley J. J. Deeks E. C. Martin Gerta Rücker Martin Schumacher Susanne Steinhauser Joie Ensor Kym Snell Brian Willis Jon Deeks Thomas Debray 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 Sabine Van Huffel Jan Verbakel 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 Peter Selby Doug Altman William Rosenberg Julien Asselineau Paul Perez Aïssatou Paye Emilie Bessede Cécile Proust-Lima Christiana Naaktgeboren Joris de Groot Johannes Reitsma Anne Rutjes Emmanuel Ogundimu Jonathan Cook Yannick Le Manach Yvonne Vergouwe Romin Pajouheshnia Rolf Groenwold Karen Moons Linda Peelen Bavo De Cock Daan Nieboer Ewout W. Steyerberg Micael J. Pencina 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 Zoe Plummer Barnaby Reeves Chris Rogers Andrew Mumford Kurtis Lee Veerle Verheyden Gianni D. Angelini Gavin J. Murphy Jeremy Huddy Melody Ni George Hanna Department of Clinical Epidemiology Biostatistics & Bioinformatics Academic Medical Center University of Amsterdam Amsterdam The Netherlands Department of Clinical Epidemiology and Biostatistics Academic Medical Center University of Amsterdam Amsterdam Netherlands Cochrane Netherlands Julius Center for Health Sciences and Primary Care University Medical Center Utrecht Utrecht Netherlands Cochrane Dementia and Cognitive Improvement Group University of Oxford Oxford UK EPPI-Centre Department of Social Science University College London London UK Division of Health and Social Care Research King’s College London London UK College of Computer and Information Science Northeastern University Boston USA University Hospitals Bristol NHS Foundation Trust School of Social and Community Medicine Bristol UK Institute of Applied Health Research University of Birmingham Birmingham UK School of Social and Community Medicine University of Bristol Bristol UK Kleijnen Systematic Reviews Ltd York UK Research Institute for Primary Care and Health Sciences Keele University Keele UK Centre for Statistics in Medicine Nuffield Department of Orthopaedics Rheumatology and Musculoskeletal Sciences University of Oxford Oxford UK Julius Center for Health Sciences and Primary Care University Medical Center Utrecht Utrecht The Netherlands Cochrane Netherlands University Medical Center Utrecht Utrecht The Netherlands Julius Center for Health Sciences and Primary Care University Medical Center Utrecht 3584 CG Utrecht Netherlands Department of Medical Statistics University Medical Center Göttingen Göttingen Germany Institute for Biometry and Epidemiology German Diabetes Center Leibniz Institute for Diabetes Research at Heinrich Heine University Düsseldorf Germany Manchester Pharmacy School University of Manchester Manchester UK Institute for Medical Biometry and Statistics Faculty of Medicine and Medical Center – University of Freiburg Stefan-Meier-Str. 26 79104 Freiburg Germany

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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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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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Erratum to: Making sense of big data in health research: towards an EU action plan

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Genome medicine 2016年第1期8卷 118页

作者： Charles Auffray Rudi Balling Inês Barroso László Bencze Mikael Benson Jay Bergeron Enrique Bernal-Delgado Niklas Blomberg Christoph Bock Ana Conesa Susanna Del Signore Christophe Delogne Peter Devilee Alberto Di Meglio Marinus Eijkemans Paul Flicek Norbert Graf Vera Grimm Henk-Jan Guchelaar Yi-Ke Guo Ivo Glynne Gut Allan Hanbury Shahid Hanif Ralf-Dieter Hilgers Ángel Honrado D Rod Hose Jeanine Houwing-Duistermaat Tim Hubbard Sophie Helen Janacek Haralampos Karanikas Tim Kievits Manfred Kohler Andreas Kremer Jerry Lanfear Thomas Lengauer Edith Maes Theo Meert Werner Müller Dörthe Nickel Peter Oledzki Bertrand Pedersen Milan Petkovic Konstantinos Pliakos Magnus Rattray Josep Redón I Màs Reinhard Schneider Thierry Sengstag Xavier Serra-Picamal Wouter Spek Lea A I Vaas Okker van Batenburg Marc Vandelaer Peter Varnai Pablo Villoslada Juan Antonio Vizcaíno John Peter Mary Wubbe Gianluigi Zanetti European Institute for Systems Biology and Medicine 1 avenue Claude Vellefaux 75010 Paris France. cauffray@***. CIRI-UMR5308 CNRS-ENS-INSERM-UCBL Université de Lyon 50 avenue Tony Garnier 69007 Lyon France. cauffray@***. Luxembourg Centre for Systems Biomedicine University of Luxembourg 7 Avenue des Hauts Fourneaux 4362 Esch-sur-Alzette Luxembourg. rudi.balling@uni.lu. Wellcome Trust Sanger Institute Wellcome Genome Campus Hinxton Cambridge CB10 1SA UK. Health Services Management Training Centre Faculty of Health and Public Services Semmelweis University Kútvölgyi út 2 1125 Budapest Hungary. Centre for Personalised Medicine Linköping University 581 85 Linköping Sweden. Translational & Bioinformatics Pfizer Inc. 300 Technology Square Cambridge MA 02139 USA. Institute for Health Sciences IACS - IIS Aragon San Juan Bosco 13 50009 Zaragoza Spain. ELIXIR Wellcome Genome Campus Hinxton Cambridge CB10 1SD UK. CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences Lazarettgasse 14 AKH BT25.2 1090 Vienna Austria. Department of Laboratory Medicine Medical University of Vienna Lazarettgasse 14 AKH BT25.2 1090 Vienna Austria. Max Planck Institute for Informatics Campus E1 4 66123 Saarbrücken Germany. Príncipe Felipe Research Center C/Eduardo Primo Yúfera 3 46012 Valencia Spain. University of Florida Institute of Food and Agricultural Sciences (IFAS) 2033 Mowry Road Gainesville FL 32610 USA. Bluecompanion Ltd 6 London Street (second floor) London W2 1HR UK. Technology Data & Analytics KPMG Luxembourg Société Coopérative 39 Avenue John F. Kennedy 1855 Luxembourg Luxembourg. Department of Human Genetics Department of Pathology Leiden University Medical Centre Einthovenweg 20 2333 ZC Leiden The Netherlands. Information Technology Department European Organization for Nuclear Research (CERN) 385 Route de Meyrin 1211 Geneva 23 Switzerland. Julius Center for Health Sciences and Primary Care University Medical Center

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On the integration of graph exploration and data analysis: The creative exploration toolkit

Lecture Notes in Computer Science (including subseries Lectu...

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Lecture Notes in Computer science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in bioinformatics) 2012年 7250卷 301-312页

作者： Haun, Stefan Gossen, Tatiana Nürnberger, Andreas Kötter, Tobias Thiel, Kilian Berthold, Michael R. Data and Knowledge Engineering Group Faculty of Computer Science Otto-von-Guericke-University Germany Department for Bioinformatics and Information Mining University of Konstanz Germany

ISBN: (纸本)9783642318290

To enable discovery in large, heterogenious information networks a tool is needed that allows exploration in changing graph structures and integrates advanced graph mining methods in an interactive visualization framework. We present the Creative Exploration Toolkit (CET), which consists of a state-of-the-art user interface for graph visualization designed towards explorative tasks and support tools for integration and communication with external data sources and mining tools, especially the data-mining platform KNIME. All parts of the interface can be customized to fit the requirements of special tasks, including the use of node type dependent icons, highlighting of nodes and clusters. Through an evaluation we have shown the applicability of CET for structure-based analysis tasks. © 2012 Springer-Verlag Berlin Heidelberg.

关键词： User interfaces

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Predicting bone metastasis of breast cancer using context-specific miRNA regulation modules

Predicting bone metastasis of breast cancer using context-sp...

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第五届全国生物信息学与系统生物学学术大会

作者： Xionghui Zhou Fengji Liang Juan Liu Yinghui Li Shanguang Chen Jianghui Xiong Bioinformatics Group and Data Coordination Center State Key Lab of Space Medicine Fundamentals and Application (SMFA) China Astronaut Research and Training Center (ACC) Beijing China Bioinformatics Group and Data Coordination Center State Key Lab of Space Medicine Fundamentals and Application (SMFA) China Astronaut Research and Training Center (ACC) Beijing China School of Computer Science Wuhan University Wuhan China School of Computer Science Wuhan University Wuhan China

Background: The bone is the most frequent target of metastatic breast ***, the underlying molecular mechanisms are *** many microarray studies have reported gene signatures that can predict metastasis in breast cancer, predicting cancer metastasis to a specific organ, such as to bone, remains a challenge in cancer ***: Previously we proposed a concept CoMi (Context Specific miRNA activity), which could quantify the regulation activity of miRNA on specific context (CoMi activity) by calculating the statistical difference of the expression level between the miRNAtargets and non-targets in a given context (GO term biological process), and demonstrated its application on predicting *** we extend this concept to CoMi module and use it to predict whether the cancer will metastasize to ***, CoMi features which are significant associated with the bone metastasis are identified by Cox proportional hazards *** on the significant CoMi features, miRNAs regulate on the same context are regarded as a significant miRNA regulation *** each significant CoMi module is used to predict bone metastasis of breast cancer patients by sum up all the risk scores (Cox proportional hazards regression) of CoMi features in the ***: We tested the proposed method on a breast cancer cohort contain 855 samples' gene expression profiles together with bone metastasis *** bone metastasis specific CoMi modules are identified, such as module 'hemopoiesis', which has a log rank p value of 9.05e-07 in train dataset, 0.0075 in test dataset and 0.0031 in independent test *** the hematopoietic stem cell niche is a potential therapeutic target for bone metastatic tumors, our results might facilitate to identify the miRNAs regulation modules involved in hematopoietic stem cell ***: We proposed the concept of CoMi activity module, and identified some CoMi activity modules which

关键词： Context specific miRNA activity metastasis organ prediction miRNA regulation network

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