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Addendum: The FAIR Guiding Principles for scientific data management and stewardship

Scientific data 2019年第1期6卷 6页

作者： Mark D Wilkinson Michel Dumontier Ijsbrand Jan Aalbersberg Gabrielle Appleton Myles Axton Arie Baak Niklas Blomberg Jan-Willem Boiten Luiz Bonino da Silva Santos Philip E Bourne Jildau Bouwman Anthony J Brookes Tim Clark Mercè Crosas Ingrid Dillo Olivier Dumon Scott Edmunds Chris T Evelo Richard Finkers Alejandra Gonzalez-Beltran Alasdair J G Gray Paul Groth Carole Goble Jeffrey S Grethe Jaap Heringa Peter A C 't Hoen Rob Hooft Tobias Kuhn Ruben Kok Joost Kok Scott J Lusher Maryann E Martone Albert Mons Abel L Packer Bengt Persson Philippe Rocca-Serra Marco Roos Rene van Schaik Susanna-Assunta Sansone Erik Schultes Thierry Sengstag Ted Slater George Strawn Morris A Swertz Mark Thompson Johan van der Lei Erik van Mulligen Andra Waagmeester Peter Wittenburg Katherine Wolstencroft Jun Zhao Barend Mons Center for Plant Biotechnology and Genomics Universidad Politécnica de Madrid Madrid 28223 Spain. Stanford University Stanford 94305-5411 USA. Elsevier Amsterdam 1043 NX The Netherlands. Nature Genetics New York 10004-1562 USA. Euretos and Phortos Consultants Rotterdam 2741 CA The Netherlands. ELIXIR Wellcome Genome Campus Hinxton CB10 1SA UK. Lygature Eindhoven 5656 AG The Netherlands. Vrije Universiteit Amsterdam Dutch Techcenter for Life Sciences Amsterdam 1081 HV The Netherlands. Office of the Director National Institutes of Health Rockville 20892 USA. TNO Zeist 3700 AJ The Netherlands. Department of Genetics University of Leicester Leicester LE1 7RH UK. Harvard Medical School Boston Massachusetts MA 02115 USA. Harvard University Cambridge Massachusetts MA 02138 USA. Data Archiving and Networked Services (DANS) The Hague 2593 HW The Netherlands. GigaScience Beijing Genomics Institute Shenzhen 518083 China. Department of Bioinformatics Maastricht University Maastricht 6200 MD The Netherlands. Wageningen UR Plant Breeding Wageningen 6708 PB The Netherlands. Oxford e-Research Center University of Oxford Oxford OX1 3QG UK. Heriot-Watt University Edinburgh EH14 4AS UK. School of Computer Science University of Manchester Manchester M13 9PL UK. Center for Research in Biological Systems School of Medicine University of California San Diego La Jolla California 92093-0446 USA. Dutch Techcenter for the Life Sciences Utrecht 3501 DE The Netherlands. Department of Human Genetics Leiden University Medical Center Dutch Techcenter for the Life Sciences Leiden 2300 RC The Netherlands. Dutch TechCenter for Life Sciences and ELIXIR-NL Utrecht 3501 DE The Netherlands. VU University Amsterdam Amsterdam 1081 HV The Netherlands. Leiden Center of Data Science Leiden University Leiden 2300 RA The Netherlands. Netherlands eScience Center Amsterdam 1098 XG The Netherlands. National Center for Microscopy and Imaging Research UCSD San Di

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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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Publisher Correction: A clonal expression biomarker associates with lung cancer mortality

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Nature medicine 2020年第7期26卷 1148页

作者： Dhruva Biswas Nicolai J Birkbak Rachel Rosenthal Crispin T Hiley Emilia L Lim Krisztian Papp Stefan Boeing Marcin Krzystanek Dijana Djureinovic Linnea La Fleur Maria Greco Balázs Döme János Fillinger Hans Brunnström Yin Wu David A Moore Marcin Skrzypski Christopher Abbosh Kevin Litchfield Maise Al Bakir Thomas B K Watkins Selvaraju Veeriah Gareth A Wilson Mariam Jamal-Hanjani Judit Moldvay Johan Botling Arul M Chinnaiyan Patrick Micke Allan Hackshaw Jiri Bartek Istvan Csabai Zoltan Szallasi Javier Herrero Nicholas McGranahan Charles Swanton Cancer Research UK Lung Cancer Centre of Excellence University College London Cancer Institute Paul O'Gorman Building London UK. Bill Lyons Informatics Centre University College London Cancer Institute Paul O'Gorman Building London UK. Cancer Evolution and Genome Instability Laboratory The Francis Crick Institute London UK. Cancer Research UK Lung Cancer Centre of Excellence University College London Cancer Institute Paul O'Gorman Building London UK. nbirkbak@clin.au.dk. Cancer Evolution and Genome Instability Laboratory The Francis Crick Institute London UK. nbirkbak@clin.au.dk. Department of Molecular Medicine Aarhus University Aarhus Denmark. nbirkbak@clin.au.dk. Bioinformatics Research Centre Aarhus University Aarhus Denmark. nbirkbak@clin.au.dk. Department of Physics of Complex Systems ELTE Eötvös Loránd University Budapest Hungary. Bioinformatics and Biostatistics The Francis Crick Institute London UK. Danish Cancer Society Research Center Copenhagen Denmark. Department of Immunology Genetics and Pathology Uppsala University Uppsala Sweden. Genomics Equipment Park The Francis Crick Institute London UK. Department of Tumor Biology National Korányi Institute of Pulmonology Semmelweis University Budapest Hungary. Division of Thoracic Surgery Comprehensive Cancer Center Medical University of Vienna Vienna Austria. Department of Thoracic Surgery National Institute of Oncology Semmelweis University Budapest Hungary. Department of Pathology National Korányi Institute of Pulmonology Semmelweis University Budapest Hungary. Department of Pathology National Institute of Oncology Budapest Hungary. Lund University Laboratory Medicine Region Skåne Department of Clinical Sciences Lund Pathology Lund Sweden. Department of Pathology UCL Cancer Institute London UK. Department of Oncology and Radiotherapy Medical University of Gdansk Gdansk Poland. SE-NAP Brain Metastasis Research Group 2nd Department of Pathology Semmelweis University Budapest Hungary.

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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Heterogeneity analysis provides evidence for a genetically homogeneous subtype of bipolar-disorder

arXiv

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arXiv 2024年

作者： McGrouther, Caroline C. Rangan, Aaditya V. Florio, Arianna Di Elman, Jeremy A. Schork, Nicholas J. Kelsoe, John Stahl, Eli A. Breen, Gerome Forstner, Andreas J. McQuillin, Andrew Ripke, Stephan Trubetskoy, Vassily Mattheisen, Manuel Wang, Yunpeng Coleman, Jonathan R.I. Gaspar, Héléna A. de Leeuw, Christiaan A. Steinberg, Stacy Whitehead Pavlides, Jennifer M. Trzaskowski, Maciej Byrne, Enda M. Pers, Tune H. Holmans, Peter A. Richards, Alexander L. Abbott, Liam Agerbo, Esben Akil, Huda Albani, Diego Alliey-Rodriguez, Ney Als, Thomas D. Anjorin, Adebayo Antilla, Verneri Awasthi, Swapnil Badner, Judith A. Bækvad-Hansen, Marie Barchas, Jack D. Bass, Nicholas Bauer, Michael Belliveau, Richard Bergen, Sarah E. Pedersen, Carsten Bøcker Bøen, Erlend Boks, Marco P. Boocock, James Budde, Monika Bunney, William Burmeister, Margit Bybjerg-Grauholm, Jonas Byerley, William Casas, Miquel Cerrato, Felecia Cervantes, Pablo Chambert, Kimberly Charney, Alexander W. Chen, Danfeng Churchhouse, Claire Clarke, Toni-Kim Coryell, William Craig, David W. Cruceanu, Cristiana Curtis, David Czerski, Piotr M. Dale, Anders M. de Jong, Simone Degenhardt, Franziska Del-Favero, Jurgen DePaulo, J. Raymond Djurovic, Srdjan Dobbyn, Amanda L. Dumont, Ashley Elvsåshagen, Torbjørn Escott-Price, Valentina Fan, Chun Chieh Fischer, Sascha B. Flickinger, Matthew Foroud, Tatiana M. Forty, Liz Frank, Josef Fraser, Christine Freimer, Nelson B. Frisén, Louise Gade, Katrin Gage, Diane Garnham, Julie Giambartolomei, Claudia Pedersen, Marianne Giørtz Goldstein, Jaqueline Gordon, Scott D. Gordon-Smith, Katherine Green, Elaine K. Green, Melissa J. Greenwood, Tiffany A. Grove, Jakob Guan, Weihua Guzman-Parra, José Hamshere, Marian L. Hautzinger, Martin Heilbronner, Urs Herms, Stefan Hipolito, Maria Hoffmann, Per Holland, Dominic Huckins, Laura Jamain, Stéphane Johnson, Jessica S. Kandaswamy, Radhika Karlsson, Robert Kennedy, James L. Kittel-Schneider, Sarah Knowles, James A. Kogevinas, Manolis Koller, Anna C. Kupka, Ralph Lavebratt, Catharina Lawrence, Jacob Lawson, Courant Institute of Mathematical Sciences New York University New YorkNY United States School of Medicine Division of Psychological Medicine and Clinical Neurosciences Cardiff University Cardiff United Kingdom Department of Psychiatry University of California San Diego San DiegoCA United States The Translational Genomics Research Institute Quantitative Medicine and Systems Biology PhoenixAZ United States Department of Psychiatry University of California San Diego La Jolla CA United States Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New YorkNY United States Department of Psychiatry Icahn School of Medicine at Mount Sinai New YorkNY United States Medical and Population Genetics Broad Institute CambridgeMA United States MRC Social Genetic and Developmental Psychiatry Centre King’s College London London United Kingdom NIHR BRC for Mental Health King’s College London London United Kingdom University of Basel Basel Switzerland Institute of Human Genetics University of Bonn School of Medicine University Hospital Bonn DE Bonn Germany Centre for Human Genetics University of Marburg DE Marburg Germany Institute of Medical Genetics and Pathology University Hospital Basel Basel Switzerland Division of Psychiatry University College London London United Kingdom Stanley Center for Psychiatric Research Broad Institute CambridgeMA United States Department of Psychiatry and Psychotherapy Charité - Universitätsmedizin Berlin Germany Analytic and Translational Genetics Unit Massachusetts General Hospital BostonMA United States iSEQ Center for Integrative Sequencing Aarhus University DK Aarhus Denmark Department of Biomedicine - Human Genetics Aarhus University DK Aarhus Denmark Department of Clinical Neuroscience Centre for Psychiatry Research Karolinska Institutet Stockholm Sweden Department of Psychiatry Psychosomatics and Psychotherapy Center of Mental Health University Hospital Würzburg DE Würzburg Ge

Background: Bipolar Disorder (BD) is a complex disease. It is heterogeneous, both at the phenotypic and genetic level, although the extent and impact of this heterogeneity is not fully understood. One way to assess this heterogeneity is to look for patterns in the subphenotype data. Because of the variability in how phenotypic data was collected by the various BD studies over the years, homogenizing this subphenotypic data is a challenging task, and so is replication. An alternative methodology, taken here, is to set aside the intricacies of subphenotype and allow the genetic data itself to determine which subjects define a homogeneous genetic subgroup (termed ‘bicluster’ below). Results: In this paper, we leverage recent advances in heterogeneity analysis to look for genetically-driven subgroups (i.e., biclusters) within the broad phenotype of Bipolar Disorder. We first apply this covariate-corrected biclustering algorithm to a cohort of 2524 BD cases and 4106 controls from the Bipolar Disease Research Network (BDRN) within the Psychiatric Genomics Consortium (PGC). We find evidence of genetic heterogeneity delineating a statistically significant bicluster comprising a subset of BD cases which exhibits a disease-specific pattern of differential-expression across a subset of SNPs. This disease-specific genetic pattern (i.e., ‘genetic subgroup’) replicates across the remaining data-sets collected by the PGC containing 5781/8289, 3581/7591, and 6825/9752 cases/controls, respectively. This genetic subgroup (discovered without using any BD subtype information) was more prevalent in Bipolar type-I than in Bipolar type-II. Conclusions: Our methodology has successfully identified a replicable homogeneous genetic subgroup of bipolar disorder. This subgroup may represent a collection of correlated genetic risk-factors for BDI. By investigating the subgroup’s bicluster-informed polygenic-risk-scoring (PRS), we find that the disease-specific pattern highlighted by the bicluste

关键词： Economic and social effects

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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: Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

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Nature genetics 2018年第12期50卷 1752页

作者： Valentina Iotchkova Jie Huang John A Morris Deepti Jain Caterina Barbieri Klaudia Walter Josine L Min Lu Chen William Astle Massimilian Cocca Patrick Deelen Heather Elding Aliki-Eleni Farmaki Christopher S Franklin Mattias Franberg Tom R Gaunt Albert Hofman Tao Jiang Marcus E Kleber Genevieve Lachance Jian'an Luan Giovanni Malerba Angela Matchan Daniel Mead Yasin Memari Ioanna Ntalla Kalliope Panoutsopoulou Raha Pazoki John R B Perry Fernando Rivadeneira Maria Sabater-Lleal Bengt Sennblad So-Youn Shin Lorraine Southam Michela Traglia Freerk van Dijk Elisabeth M van Leeuwen Gianluigi Zaza Weihua Zhang Najaf Amin Adam Butterworth John C Chambers George Dedoussis Abbas Dehghan Oscar H Franco Lude Franke Mattia Frontini Giovanni Gambaro Paolo Gasparini Anders Hamsten Aaron Isaacs Jaspal S Kooner Charles Kooperberg Claudia Langenberg Winfried Marz Robert A Scott Morris A Swertz Daniela Toniolo Andre G Uitterlinden Cornelia M van Duijn Hugh Watkins Eleftheria Zeggini Mathew T Maurano Nicholas J Timpson Alexander P Reiner Paul L Auer Nicole Soranzo European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Trust Genome Campus Hinxton UK. Human Genetics Wellcome Trust Sanger Institute Hinxton UK. Boston VA Research Institute Boston Massachusetts USA. Centre for Clinical Epidemiology Lady Davis Institute for Medical Research Jewish General Hospital McGill University Montreal Quebec Canada. Department of Human Genetics McGill University Montreal Quebec Canada. Department of Biostatistics University of Washington Seattle Washington USA. Division of Genetics and Cell Biology San Raffaele Scientific Institute Milan Italy. MRC Integrative Epidemiology Unit School of Social and Community Medicine University of Bristol Bristol UK. Department of Hematology University of Cambridge Cambridge UK. Department of Public Health and Primary Care University of Cambridge Cambridge UK. Medical Genetics Institute for Maternal and Child Health IRCCS 'Burlo Garofolo' Trieste Italy. Department of Medical Surgical and Health Sciences University of Trieste Trieste Italy. University of Groningen University Medical Center Groningen Genomics Coordination Center Groningen The Netherlands. University of Groningen University Medical Center Groningen Department of Genetics Groningen The Netherlands. Department of Nutrition and Dietetics School of Health Science and Education Harokopio University Athens Greece. Cardiovascular Medicine Unit Department of Medicine Karolinska Institute Stockholm Sweden. Department of Epidemiology Erasmus University Medical Center Rotterdam The Netherlands. Department of Epidemiology Harvard T.H. Chan School of Public Health Boston Massachusetts USA. Medical Clinic V (Nephrology Hypertensiology Rheumatology Endocrinology Diabetology) Mannheim Medical Faculty Heidelberg University Mannheim Germany. Department of Twin Research and Genetic Epidemiology King's College London London UK. MRC Epidemiology Unit University of Cambridge School of Clinical Medicine Institu

In the version of the article published, the surname of author Aaron Isaacs is misspelled as Issacs.

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Enhancing Discovery of Genetic Variants for Posttraumatic Stress Disorder Through Integration of Quantitative Phenotypes and Trauma Exposure Information (vol 91, pg 626, 2022)

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BIOLOGICAL PSYCHIATRY 2022年第7期91卷 690-690页

作者： Maihofer, Adam X. Vinkers, Christiaan H. Department of Psychiatry University of California San Diego La Jolla California Department of Family Medicine and Public Health University of California San Diego La Jolla California Center of Excellence for Stress and Mental Health Veterans Affairs Healthcare System San Diego California. Electronic address: amaihofer@health.ucsd.edu. Department of Epidemiology Harvard T.H. Chan School of Public Health Boston Massachusetts Department of Psychiatry Massachusetts General Hospital Boston Massachusetts. Social Genetic and Developmental Psychiatry Centre Institute of Psychiatry Psychology and Neuroscience King's College London London United Kingdom National Institute of Health Research Maudsley Biomedical Research Centre King's College London London United Kingdom. Department of Psychiatry Harvard Medical School Boston Massachusetts Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge Massachusetts Center of Excellence in Depression and Anxiety Disorders Belmont Massachusetts. Department of Epidemiology Harvard T.H. Chan School of Public Health Boston Massachusetts Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge Massachusetts. Department of Psychiatry University of California San Diego La Jolla California Center of Excellence for Stress and Mental Health Veterans Affairs Healthcare System San Diego California Research Service Veterans Affairs Healthcare System San Diego California. Duke Molecular Physiology Institute Duke University School of Medicine Durham North Carolina. Department of Psychiatry Veterans Affairs Connecticut Healthcare System West Haven Connecticut Department of Psychiatry Yale University School of Medicine New Haven Connecticut. Department of Epidemiology Harvard T.H. Chan School of Public Health Boston Massachusetts Department of Epidemiology Columbia University Mailman School of Public Health New York. Division of Mental Health Atlanta Veterans Affairs Medical Center

BACKGROUND: Posttraumatic stress disorder (PTSD) is heritable and a potential consequence of exposure to traumatic stress. Evidence suggests that a quantitative approach to PTSD phenotype measurement and incorporation of lifetime trauma exposure (LTE) information could enhance the discovery power of PTSD genome-wide association studies (GWASs). METHODS: A GWAS on PTSD symptoms was performed in 51 cohorts followed by a fixed-effects meta-analysis (N = 182,199 European ancestry participants). A GWAS of LTE burden was performed in the UK Biobank cohort (N = 132,988). Genetic correlations were evaluated with linkage disequilibrium score regression. Multivariate analysis was performed using Multi-Trait Analysis of GWAS. Functional mapping and annotation of leading loci was performed with FUMA. Replication was evaluated using the Million Veteran program GWAS of PTSD total symptoms. RESULTS: GWASs of PTSD symptoms and LTE burden identified 5 and 6 independent genome-wide significant loci, respectively. There was a 72% genetic correlation between PTSD and LTE. PTSD and LTE showed largely similar patterns of genetic correlation with other traits, albeit with some distinctions. Adjusting PTSD for LTE reduced PTSD heritability by 31%. Multivariate analysis of PTSD and LTE increased the effective sample size of the PTSD GWAS by 20% and identified 4 additional loci. Four of these 9 PTSD loci were independently replicated in the Million Veteran program. CONCLUSIONS: Through using a quantitative trait measure of PTSD, we identified novel risk loci not previously identified using prior case-control analyses. PTSD and LTE have a high genetic overlap that can be leveraged to increase discovery power through multivariate methods.

关键词： GWAS Genetics Heritability PTSD PheWAS Trauma

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Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

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npj Genomic Medicine 2024年第1期9卷 49页

作者： Demidov, German Yaldiz, Burcu Garcia-Pelaez, José de Boer, Elke Schuermans, Nika Van de Vondel, Liedewei Paramonov, Ida Johansson, Lennart F. Musacchia, Francesco Benetti, Elisa Bullich, Gemma Sablauskas, Karolis Beltran, Sergi Gilissen, Christian Hoischen, Alexander Ossowski, Stephan de Voer, Richarda Lohmann, Katja Oliveira, Carla Topf, Ana Vissers, Lisenka E. L. M. Zguro, Kristina Zara, Federico Zaganas, Ioannis Yépez, Vicente A. Wirth, Brunhilde Webb, David Verdin, Hannah Van Nieuwenhove, Erika van Montfrans, Joris van Heurck, Roxane van der Veken, Lars Valle, Laura Uva, Paolo Udd, Bjarne Trimouille, Aurelien Thompson, Rachel Tartaglia, Marco Sznajer, Yves Striano, Pasquale Steinke-Lange, Verena Spilioti, Martha Scudieri, Paolo Schröck, Evelin Schon, Katherine Scala, Marcello Savarese, Marco Santen, Gijs W. E. Rump, Andreas Ruivenkamp, Claudia A. L. Roos, Andreas Rooryck, Caroline Riva, Antonella Renieri, Alessandra Ratnaike, Thiloka Radio, Francesca Clementina Privitera, Flavia De la Paz, Manuel Posada Poppe, Bruce Polavarapu, Kiran Platzer, Konrad Peterlin, Borut Pérez-Dueñas, Belén Pauly, Martje Parrini, Elena Olimpio, Catarina Reghan, Mary O. de Benito, Daniel Natera Osorio, Andrés Nascimento Munell, Francina Münchau, Alexander Moortgat, Stéphanie Monestier, Olivier Molnar, Maria Judit Meunier, Colombine Mertes, Christian Mei, Davide Maystadt, Isabelle May, Patrick Maver, Ales Mathioudakis, Lambros Masclaux, Frédéric Mary, Sandrine Delgado, Beatriz Martínez Marcé-Grau, Anna Malaichamy, Sivasankar Macaya, Alfons Luknárová, Rebeka Martín, Estrella López Lochmüller, Hanns Leitão, Elsa Lederer, Damien Leavis, Helen Laner, Andreas Lacombe, Didier Krass, Leon Korff, Christian Kokosali, Evgenia Karakaya, Mert Karadurmus, Deniz Kapaki, Elisabeth Johari, Mridul Iacomino, Michele Huibers, Manon Horvath, Rita Holinski-Feder, Elke Hoffer, Mariette J. V. Herzog, Rebecca Hemelsoet, Dimitri Bouveret, Eva Hammar Haimel, Matthias Hackman, Peter Guerrini, Renzo Grimbacher, Bodo Greally, Marie Ghani, Hamidah Gagneur, Julien Institute of Medical Genetics and Applied Genomics University of Tübingen Tübingen Germany Institute for Bioinformatics and Medical Informatics (IBMI) University of Tübingen Tübingen Germany Department of Human Genetics Radboud University Medical Center Nijmegen Netherlands Department of Clinical Genetics Maastricht University Medical Center Maastricht Netherlands i3S - Instituto de Investigação e Inovação em Saúde Rua Alfredo Allen 208 Porto 4200-135 Portugal IPATIMUP - Institute of Molecular Pathology and Immunology University of Porto Porto Portugal Faculty of Medicine University of Porto Porto Portugal Donders Institute for Brain Cognition and Behaviour Radboud University Nijmegen Netherlands Department of Clinical Genetics Erasmus MC University Medical Center Rotterdam Netherlands Center for Medical Genetics Ghent University Hospital Ghent Belgium Translational Neurosciences Faculty of Medicine and Health Sciences University of Antwerp Antwerp Belgium Laboratory of Neuromuscular Pathology Institute Born-Bunge University of Antwerp Antwerp Belgium Centro Nacional de Análisis Genómico (CNAG) C/Baldiri Reixac 4 Barcelona 08028 Spain Universitat de Barcelona (UB) Barcelona Spain University of Groningen University Medical Center Groningen Department of Genetics Groningen Netherlands Center for Human Technologies Italian Institute of Technology (IIT) Genova Italy Telethon Institute for Genetics and Medicine Pozzuoli (Napoli) 80078 Italy Department of Medical Biotechnologies Med Biotech Hub and Competence Center University of Siena Siena 53100 Italy Institute of Data Science and Digital Technologies Vilnius University Vilnius Lithuania Departament de Genètica Microbiologia i Estadística Facultat de Biologia Universitat de Barcelona (UB) Barcelona Spain Radboud Institute for Molecular Life Sciences Nijmegen Netherlands Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI) Radboud University Medical Center Nijmegen N

We report the results of a comprehensive copy number variant (CNV) reanalysis of 9171 exome sequencing datasets from 5757 families affected by a rare disease (RD). The data reanalysed was extremely heterogeneous, having been generated using 28 different enrichment kits by 42 different research groups across Europe partnering in the Solve-RD project. Each research group had previously undertaken their own analysis of the data but failed to identify disease-causing variants. We applied three CNV calling algorithms to maximise sensitivity, and rare CNVs overlapping genes of interest, provided by four partner European Reference Networks, were taken forward for interpretation by clinical experts. This reanalysis has resulted in a molecular diagnosis being provided to 51 families in this sample, with ClinCNV performing the best of the three algorithms. We also identified partially explanatory pathogenic CNVs in a further 34 individuals. This work illustrates the value of reanalysing ES cold cases for CNVs. © The Author(s) 2024.

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GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

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Nature genetics 2023年第9期55卷 1471-1482页

作者： Remi Stevelink Dorothee Kasteleijn-Nolst Trenite Bobby P. C. Koeleman Dick Lindhout Anja C. M. Sonsma Ciarán Campbell Gianpiero L. Cavalleri Norman Delanty Hany El-Naggar Austin Lacey Peter Widdess-Walsh Colin P. Doherty Siwei Chen Claire Churchhouse Mark J. Daly Yen-Chen A. Feng Daniel P. Howrigan Mitja I. Kurki Benjamin M. Neale Aarno Palotie Wei Zhou Namrata Gupta Henrike O. Heyne Bassel Abou-Khalil Kevin F. Haas R. S. Taneja Oluyomi M. Adesoji Michael Nothnagel Peter Nürnberg Thomas Sander Zaid Afawi Ilan Blatt Amos D. Korczyn Elisabetta Amadori Ganna Balagura Antonella Riva Marcello Scala Paolo Scudieri Pasquale Striano Federico Zara Michele Iacomino Francesca Madia Alison Anderson Patrick Kwan Terence J. O’Brien Slavé Petrovski K. Meng Tan Marian Todaro Joseph Anderson Danielle M. Andrade Quratulain Zulfiqar Ali Grazia Annesi Pauls Auce Andreja Avbersek Simona Balestrini Vera Braatz Claudia B. Catarino Krishna Chinthapalli Jennifer Jamnadas-Khoda Dalia Kasperavičiūte Costin Leu Josemir W. Sander Sanjay M. Sisodiya Sara Zagaglia Melanie Bahlo Karen L. Oliver Mark D. Baker Beata Fonferko-Shadrach William O. Pickrell Carmen Barba Claudia Bianchini Viola Doccini Renzo Guerrini Davide Mei Martino Montomoli Elena Parrini Annalisa Vetro Karen Barboza Fabrice Bartolomei Thomas Bast Bernhard J. Steinhoff Larry Baum Stacey S. Cherny Pak Sham Tobias Baumgartner Christian E. Elger Kerstin Hallmann Wolfram S. Kunz Rainer Surges Randi von Wrede Gábor Zsurka Betül Baykan Nerses Bebek Yeşim Kesim Albert J. Becker Susanne Schoch Felicitas Becker Caitlin A. Bennett Samuel F. Berkovic Stephanie L. Leech Brigid M. Regan Ingrid E. Scheffer Bianca Berghuis Ahmad Beydoun Wassim Nasreddine Francesca Bisulli Lidia Di Vito Lorenzo Ferri Tania Giangregorio Laura Licchetta Raffaella Minardi Barbara Mostacci Carlotta Stipa Paolo Tinuper Lorenzo Muccioli Federica Pondrelli Dheeraj R. Bobbili Emadeldin Hassanin Roland Krause Zied Landoulsi Patrick May Ingo Borggraefe Christian Bosselmann Christian Hengsbach Josua Kegele Stephen Lauxmann Department of Genetics University Medical Center Utrecht Utrecht The Netherlands Stichting Epilepsie Instellingen Nederland (SEIN) Heemstede The Netherlands School of Pharmacy and Biomolecular Sciences The Royal College of Surgeons in Ireland Dublin Ireland The FutureNeuro Research Centre Dublin Ireland Department of Neurology Beaumont Hospital Dublin Ireland Department of Neurology St. James’s Hospital Dublin Ireland Analytic and Translational Genetics Unit Department of Medicine Massachusetts General Hospital and Harvard Medical School Boston MA USA Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Stanley Center for Psychiatric Research Broad Institute of Harvard and M.I.T Cambridge MA USA Institute for Molecular Medicine Finland (FIMM) University of Helsinki Helsinki Finland Psychiatric & Neurodevelopmental Genetics Unit Department of Psychiatry Massachusetts General Hospital and Harvard Medical School Boston MA USA Division of Biostatistics Institute of Epidemiology and Preventive Medicine College of Public Health National Taiwan University Taipei Taiwan Hasso Plattner Institute Digital Health Center University of Potsdam Potsdam Germany Hasso Plattner Institute Mount Sinai School of Medicine New York City NY USA Department of Neurology Vanderbilt University Medical Center Nashville TN USA Cologne Center for Genomics (CCG) University of Cologne Faculty of Medicine and University Hospital Cologne Cologne Germany University Hospital Cologne Cologne Germany Department of Neurology Charité Universitaetsmedizin Berlin Campus Virchow-Clinic Berlin Germany Tel-Aviv University Sackler Faculty of Medicine Ramat Aviv Israel Department of Neurology Sheba Medical Center Ramat Gan Israel Department of Neurosciences Rehabilitation Ophthalmology Genetics Maternal and Child Health University of Genova Genova Italy IRCCS Istituto Giannina Gaslini Genova Italy Department of Medicine University of Melbour

Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and inhibitory neurons in the brain. Prioritized candidate genes overlap with monogenic epilepsy genes and with targets of current antiseizure medications. Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment.

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31st Annual Meeting and Associated programs of the Society for Immunotherapy of Cancer (SITC 2016): part one: National Harbor, MD, USA. 9-13 November 2016

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J Immunother Cancer 2016年第SUPPL 1期4卷 1-1页

作者： Andreas Lundqvist Vincent van Hoef Xiaonan Zhang Erik Wennerberg Julie Lorent Kristina Witt Laia Masvidal Sanz Shuo Liang Shannon Murray Ola Larsson Rolf Kiessling Yumeng Mao John-William Sidhom Catherine A. Bessell Jonathan Havel Jonathan Schneck Timothy A. Chan Eliot Sachsenmeier David Woods Anders Berglund Rupal Ramakrishnan Andressa Sodre Jeffrey Weber Roberta Zappasodi Yanyun Li Jingjing Qi Philip Wong Cynthia Sirard Michael Postow Walter Newman Henry Koon Vamsidhar Velcheti Margaret K. Callahan Jedd D. Wolchok Taha Merghoub Lawrence G. Lum Minsig Choi Archana Thakur Abhinav Deol Gregory Dyson Anthony Shields Cara Haymaker Marc Uemura Ravi Murthy Marihella James Daqing Wang Julie Brevard Catherine Monaghan Suzanne Swann James Geib Mark Cornfeld Srinivas Chunduru Sudhir Agrawal Cassian Yee Jennifer Wargo Sapna P. Patel Rodabe Amaria Hussein Tawbi Isabella Glitza Scott Woodman Wen-Jen Hwu Michael A. Davies Patrick Hwu Willem W. Overwijk Chantale Bernatchez Adi Diab Erminia Massarelli Neil H. Segal Vincent Ribrag Ignacio Melero Tara C. Gangadhar Walter Urba Dirk Schadendorf Robert L. Ferris Roch Houot Franck Morschhauser Theodore Logan Jason J. Luke William Sharfman Fabrice Barlesi Patrick A. Ott Laura Mansi Shivaani Kummar Gilles Salles Cecilia Carpio Roland Meier Suba Krishnan Dan McDonald Matthew Maurer Xuemin Gu Jaclyn Neely Satyendra Suryawanshi Ronald Levy Nikhil Khushalani Jennifer Wu Jinyu Zhang Fahmin Basher Mark Rubinstein Mark Bucsek Guanxi Qiao Cameron MacDonald Bonnie Hylander Elizabeth Repasky Shilpak Chatterjee Anusara Daenthanasanmak Paramita Chakraborty Kyle Toth Megan Meek Elizabeth Garrett-Mayer Michael Nishimura Chrystal Paulos Craig Beeson Xuezhong Yu Shikhar Mehrotra Fei Zhao Kathy Evans Christine Xiao Alisha Holtzhausen Brent A. Hanks Nicole Scharping Ashley V. Menk Rebecca Moreci Ryan Whetstone Rebekah Dadey Simon Watkins Robert Ferris Greg M. Delgoffe Jonathan Peled Sean Devlin Anna Staffas Melissa Lumish Kori Porosnicu Rodriguez Katya Ahr Miguel Perales Sergio Giralt Ying Taur Eric Pam Karolinska Institutet Stockholm Stockholms Lan Sweden Weill Cornell Medical College New York NY USA Nova Southeastern University Cell Therapy Institute Fort Lauderdale FL USA Johns Hopkins University School of Medicine Baltimore MD USA Immunology Program Johns Hopkins University School of Medicine Columbia MD USA Memorial Sloan Kettering Cancer Center New York NY USA Johns Hopkins Medical Institute Baltimore MD USA University of Rochester Monrovia MD USA NYU Langone Medical Center New York NY USA H. Lee Moffitt Cancer Center Tampa FL USA Ludwig Collaborative Laboratory Memorial Sloan Kettering Cancer Center New York NY USA Immune Monitoring Core Facility Memorial Sloan Kettering Cancer Center New York NY USA Leap Therapeutics Cambridge MA USA Department of Medicine Memorial Sloan Kettering Cancer Center New York NY USA Case Western Reserve University Cleveland OH USA Cleveland Clinic Main Campus Cleveland OH USA University of Virginia Cancer Center Charlottesville VA USA Stony Brook University Medical Center Stony Brook NY USA Karmanos Cancer Institute Detroit MI USA University of Texas MD Anderson Cancer Center Houston TX USA Idera Pharmaceuticals Inc. Cambridge MA USA Institut Gustave Roussy Villejuif Ile-de-France France Center for Applied Medical Research (CIMA) University of Navarra Pamplona Navarra Spain University of Pennsylvania Philadelphia PA USA Earle A. Chiles Research Institute Providence Cancer Center Portland OR USA Universitätsklinikum Essen Essen Nordrhein-Westfalen Germany University of Pittsburgh Pittsburgh PA USA CHU Rennes Service Hématologie Clinique and INSERM 0203 Unité d’Investigation Clinique Rennes Bretagne France Centre Hospitalier Régional Universitaire de Lille Lille Nord-Pas-de-Calais France Simon Cancer Center Indiana University Indianapolis IN USA University of Chicago School of Medicine Chicago IL USA Johns Hopkins University School of Medicine Lutherville MD USA Multidisciplinary Oncology and Therapeuti

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