换一批
第一作者：
Sebastian,Köhler
第一单位：
Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany dr.sebastian.koehler@gmail.com.
作者：
Sebastian,Köhler [1]
;
Nicole A,Vasilevsky [2]
;
Mark,Engelstad [2]
;
Erin,Foster [2]
;
Julie,McMurry [2]
;
Ségolène,Aymé [3]
;
Gareth,Baynam [4]
;
Susan M,Bello [5]
;
Cornelius F,Boerkoel [6]
;
Kym M,Boycott [7]
;
Michael,Brudno [8]
;
Orion J,Buske [8]
;
Patrick F,Chinnery [9]
;
Valentina,Cipriani [10]
;
Laureen E,Connell [11]
;
Hugh J S,Dawkins [12]
;
Laura E,DeMare [11]
;
Andrew D,Devereau [13]
;
Bert B A,de Vries [14]
;
Helen V,Firth [15]
;
Kathleen,Freson [16]
;
Daniel,Greene [17]
;
Ada,Hamosh [18]
;
Ingo,Helbig [19]
;
Courtney,Hum [20]
;
Johanna A,Jähn [21]
;
Roger,James [22]
;
Roland,Krause [23]
;
Stanley J,F Laulederkind [24]
;
Hanns,Lochmüller [25]
;
Gholson J,Lyon [26]
;
Soichi,Ogishima [27]
;
Annie,Olry [28]
;
Willem H,Ouwehand [29]
;
Nikolas,Pontikos [10]
;
Ana,Rath [28]
;
Franz,Schaefer [30]
;
Richard H,Scott [13]
;
Michael,Segal [31]
;
Panagiotis I,Sergouniotis [32]
;
Richard,Sever [11]
;
Cynthia L,Smith [5]
;
Volker,Straub [25]
;
Rachel,Thompson [25]
;
Catherine,Turner [25]
;
Ernest,Turro [17]
;
Marijcke W M,Veltman [33]
;
Tom,Vulliamy [34]
;
Jing,Yu [35]
;
Julie,von Ziegenweidt [36]
;
Andreas,Zankl [37]
;
Stephan,Züchner [38]
;
Tomasz,Zemojtel [39]
;
Julius O B,Jacobsen [13]
;
Tudor,Groza [40]
;
Damian,Smedley [13]
;
Christopher J,Mungall [41]
;
Melissa,Haendel [2]
;
Peter N,Robinson [42]
作者单位：
Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany dr.sebastian.koehler@gmail.com.
[1]
Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA.
[2]
Institut du Cerveau et de la Moelle épinière-ICM, CNRS UMR 7225-Inserm U 1127-UPMC-P6 UMR S 1127, Hôpital Pitié-Salpêtrière, 47, bd de l'Hôpital, 75013 Paris, France.
[3]
Western Australian Register of Developmental Anomalies and Genetic Services of Western Australia, King Edward Memorial Hospital Department of Health, Government of Western Australia, Perth, WA 6008, Australia.;School of Paediatrics and Child Health, University of Western Australia, Perth, WA 6008, Australia.
[4]
The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA.
[5]
Imagenetics Research, Sanford Health, PO Box 5039, Route 5001, Sioux Falls, SD 57117-5039, USA.
[6]
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
[7]
Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada Centre for Computational Medicine, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada.
[8]
Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.;NIHR Rare Diseases Translational Research Collaboration, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
[9]
UCL Institute of Ophthalmology, Department of Ocular Biology and Therapeutics, 11-43 Bath Street, London EC1V 9EL, UK.;UCL Genetics Institute, University College London, London WC1E 6BT, UK.
[10]
Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, USA.
[11]
Office of Population Health Genomics, Public Health Division, Health Department of Western Australia, 189 Royal Street, Perth, WA, 6004 Australia.
[12]
Genomics England, Queen Mary University of London, Dawson Hall, Charterhouse Square, London EC1M 6BQ, UK.
[13]
Department of Human Genetics, Radboud University, University Medical Centre, Nijmegen, The Netherlands.
[14]
Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
[15]
Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium.
[16]
Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Long Road, Cambridge CB2 0PT, UK.;Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK.
[17]
McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
[18]
Division of Neurology, The Children's Hospital of Philadelphia, 3501 Civic Center Blvd, Philadelphia, PA 19104, USA.;Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany.
[19]
Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON M5G 1H3, Canada.
[20]
Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany.
[21]
NIHR Rare Diseases Translational Research Collaboration, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.;Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK.
[22]
LuxembourgCentre for Systems Biomedicine, University of Luxembourg, 7, avenue des Hauts-Fourneaux, L-4362 Esch-sur-Alzette, Luxembourg.
[23]
Human and Molecular Genetics Center, Medical College of Wisconsin, USA.
[24]
John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK.
[25]
Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, New York, NY 11797, USA.
[26]
Dept of Bioclinical Informatics, Tohoku Medical Megabank Organization, Tohoku University, Tohoku Medical Megabank Organization Bldg 7F room #741,736, Seiryo 2-1, Aoba-ku, Sendai Miyagi 980-8573 Japan.
[27]
Orphanet-INSERM, US14, Plateforme Maladies Rares, 96 rue Didot, 75014 Paris, France.
[28]
Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK.
[29]
Division of Pediatric Nephrology and KFH Children's Kidney Center, Center for Pediatrics and Adolescent Medicine, 69120 Heidelberg, Germany.
[30]
SimulConsult Inc., 27 Crafts Road, Chestnut Hill, MA 02467, USA.
[31]
Manchester Royal Eye Hospital & University of Manchester, Manchester M13 9WL, UK.
[32]
NIHR Rare Diseases Translational Research Collaboration, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
[33]
Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK.
[34]
Nuffield Department of Clinical Neurosciences, University of Oxford, Level 6, West Wing, John Radcliffe Hospital, Oxford OX3 9DU, UK.
[35]
Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Long Road, Cambridge CB2 0PT, UK.
[36]
Discipline of Genetic Medicine, Sydney Medical School, The University of Sydney, Australia.;Academic Department of Medical Genetics, Sydney Childrens Hospitals Network (Westmead), Australia.
[37]
JD McDonald Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA.
[38]
Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.
[39]
Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia.;St Vincent's Clinical School, Faculty of Medicine, UNSW Australia.
[40]
Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley, CA 94720, USA.
[41]
The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA peter.robinson@jax.org.;Institute for Systems Genomics, University of Connecticut, Farmington, CT 06032, USA.
[42]
医学主题词
算法(Algorithms);计算生物学(Computational Biology);遗传关联研究(Genetic Association Studies);基因组学(Genomics);人类(Humans);表型(Phenotype);少见病(Rare Diseases);软件(Software)
DOI
10.1093/nar/gkw1039
PMID
27899602
发布时间
2025-05-30
- 浏览22
Nucleic acids research
Nucleic acids research
D865-D876页
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