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The GA4GH Phenopacket schema defines a computable representation of clinical data.
Jacobsen, Julius O B; Baudis, Michael; Baynam, Gareth S; Beckmann, Jacques S; Beltran, Sergi; Buske, Orion J; Callahan, Tiffany J; Chute, Christopher G; Courtot, Mélanie; Danis, Daniel; Elemento, Olivier; Essenwanger, Andrea; Freimuth, Robert R; Gargano, Michael A; Groza, Tudor; Hamosh, Ada; Harris, Nomi L; Kaliyaperumal, Rajaram; Lloyd, Kevin C Kent; Khalifa, Aly; Krawitz, Peter M; Köhler, Sebastian; Laraway, Brian J; Lehväslaiho, Heikki; Matalonga, Leslie; McMurry, Julie A; Metke-Jimenez, Alejandro; Mungall, Christopher J; Munoz-Torres, Monica C; Ogishima, Soichi; Papakonstantinou, Anastasios; Piscia, Davide; Pontikos, Nikolas; Queralt-Rosinach, Núria; Roos, Marco; Sass, Julian; Schofield, Paul N; Seelow, Dominik; Siapos, Anastasios; Smedley, Damian; Smith, Lindsay D; Steinhaus, Robin; Sundaramurthi, Jagadish Chandrabose; Swietlik, Emilia M; Thun, Sylvia; Vasilevsky, Nicole A; Wagner, Alex H; Warner, Jeremy L; Weiland, Claus; Haendel, Melissa A.
Afiliação
  • Jacobsen JOB; William Harvey Research Institute, Queen Mary University of London, London, UK. j.jacobsen@qmul.ac.uk.
  • Baudis M; Department of Molecular Life Sciences, University of Zurich, Zürich, Switzerland.
  • Baynam GS; Computational Oncogenomics Group, Swiss Institute of Bioinformatics, Zürich, Switzerland.
  • Beckmann JS; Western Australian Register of Developmental Anomalies and Genetic Services of WA, King Edward Memorial Hospital, Perth, Western Australia, Australia.
  • Beltran S; Faculty of Health and Medical Sciences, Division of Paediatrics, University of Western Australia, Perth, Western Australia, Australia.
  • Buske OJ; Genetic and Rare Diseases, Telethon Kids Institute, Perth, Western Australia, Australia.
  • Callahan TJ; Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland.
  • Chute CG; CNAG-CRG, Centre for Genomic Regulation (CRG), Bioinformatics Unit, The Barcelona Institute of Science and Technology, Barcelona, Spain.
  • Courtot M; Universitat Pompeu Fabra (UPF), Barcelona, Spain.
  • Danis D; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain.
  • Elemento O; PhenoTips, Toronto, Ontario, Canada.
  • Essenwanger A; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
  • Freimuth RR; Schools of Medicine, Public Health, and Nursing, Baltimore, Johns Hopkins University, Baltimore, MD, USA.
  • Gargano MA; European Bioinformatics Institute, European Molecular Biology Laboratory (EMBL-EBI), Hinxton, UK.
  • Groza T; Genome Informatics, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.
  • Hamosh A; Genomic Medicine, The Jackson Laboratory, Farmington, CT, USA.
  • Harris NL; Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.
  • Kaliyaperumal R; Core Facility Digital Medicine and Interoperability, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Lloyd KCK; Department of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, MN, USA.
  • Khalifa A; Genomic Medicine, The Jackson Laboratory, Farmington, CT, USA.
  • Krawitz PM; EMBL-EBI, Cambridge, UK.
  • Köhler S; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
  • Laraway BJ; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.
  • Lehväslaiho H; Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
  • Matalonga L; Mouse Biology Program, University of California Davis, Davis, CA, USA.
  • McMurry JA; Department of Surgery, University of California Davis School of Medicine, Sacramento, CA, USA.
  • Metke-Jimenez A; Department of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, MN, USA.
  • Mungall CJ; University Hospital Bonn, Bonn, Germany, and Institute for Genomic Statistics and Bioinformatics, Bonn, Germany.
  • Munoz-Torres MC; Ada Health GmbH, Berlin, Germany.
  • Ogishima S; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
  • Papakonstantinou A; Sensitive Data Services, CSC-IT Center for Science, Espoo, Finland.
  • Piscia D; CNAG-CRG, Centre for Genomic Regulation (CRG), Bioinformatics Unit, The Barcelona Institute of Science and Technology, Barcelona, Spain.
  • Pontikos N; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
  • Queralt-Rosinach N; The Australian e-Health Research Centre, CSIRO, Herston, Queensland, Australia.
  • Roos M; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.
  • Sass J; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
  • Schofield PN; Tohoku University, INGEM, Sendai, Japan.
  • Seelow D; CNAG-CRG, Centre for Genomic Regulation (CRG), Bioinformatics Unit, The Barcelona Institute of Science and Technology, Barcelona, Spain.
  • Siapos A; CNAG-CRG, Centre for Genomic Regulation (CRG), Bioinformatics Unit, The Barcelona Institute of Science and Technology, Barcelona, Spain.
  • Smedley D; Institute of Ophthalmology, University College London, London, UK.
  • Smith LD; Genetics Service, Moorfields Eye Hospital, London, UK.
  • Steinhaus R; Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
  • Sundaramurthi JC; Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
  • Swietlik EM; Core Facility Digital Medicine and Interoperability, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Thun S; Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK.
  • Vasilevsky NA; Mammalian Genetics, The Jackson Laboratory, Bar Harbor, ME, USA.
  • Wagner AH; The Alan Turing Institute, London, UK.
  • Warner JL; Bioinformatics and Translational Genetics, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Weiland C; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
  • Haendel MA; William Harvey Research Institute, Queen Mary University of London, London, UK.
Nat Biotechnol ; 40(6): 817-820, 2022 Jun.
Article em En | MEDLINE | ID: mdl-35705716
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Nat Biotechnol Assunto da revista: BIOTECNOLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Nat Biotechnol Assunto da revista: BIOTECNOLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido