The GA4GH Phenopacket schema defines a computable representation of clinical data

Affiliations

• ¹ William Harvey Research Institute, Queen Mary University of London, London, UK. j.jacobsen@qmul.ac.uk.
• ² Department of Molecular Life Sciences, University of Zurich, Zürich, Switzerland.
• ³ Computational Oncogenomics Group, Swiss Institute of Bioinformatics, Zürich, Switzerland.
• ⁴ Western Australian Register of Developmental Anomalies and Genetic Services of WA, King Edward Memorial Hospital, Perth, Western Australia, Australia.
• ⁵ Faculty of Health and Medical Sciences, Division of Paediatrics, University of Western Australia, Perth, Western Australia, Australia.
• ⁶ Genetic and Rare Diseases, Telethon Kids Institute, Perth, Western Australia, Australia.
• ⁷ Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland.
• ⁸ CNAG-CRG, Centre for Genomic Regulation (CRG), Bioinformatics Unit, The Barcelona Institute of Science and Technology, Barcelona, Spain.
• ⁹ Universitat Pompeu Fabra (UPF), Barcelona, Spain.
• ¹⁰ Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain.
• ¹¹ PhenoTips, Toronto, Ontario, Canada.
• ¹² Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
• ¹³ Schools of Medicine, Public Health, and Nursing, Baltimore, Johns Hopkins University, Baltimore, MD, USA.
• ¹⁴ European Bioinformatics Institute, European Molecular Biology Laboratory (EMBL-EBI), Hinxton, UK.
• ¹⁵ Genome Informatics, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.
• ¹⁶ Genomic Medicine, The Jackson Laboratory, Farmington, CT, USA.
• ¹⁷ Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.
• ¹⁸ Core Facility Digital Medicine and Interoperability, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.
• ¹⁹ Department of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, MN, USA.
• ²⁰ EMBL-EBI, Cambridge, UK.
• ²¹ Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
• ²² Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.
• ²³ Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
• ²⁴ Mouse Biology Program, University of California Davis, Davis, CA, USA.
• ²⁵ Department of Surgery, University of California Davis School of Medicine, Sacramento, CA, USA.
• ²⁶ University Hospital Bonn, Bonn, Germany, and Institute for Genomic Statistics and Bioinformatics, Bonn, Germany.
• ²⁷ Ada Health GmbH, Berlin, Germany.
• ²⁸ Sensitive Data Services, CSC-IT Center for Science, Espoo, Finland.
• ²⁹ The Australian e-Health Research Centre, CSIRO, Herston, Queensland, Australia.
• ³⁰ Tohoku University, INGEM, Sendai, Japan.
• ³¹ Institute of Ophthalmology, University College London, London, UK.
• ³² Genetics Service, Moorfields Eye Hospital, London, UK.
• ³³ Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK.
• ³⁴ Mammalian Genetics, The Jackson Laboratory, Bar Harbor, ME, USA.
• ³⁵ The Alan Turing Institute, London, UK.
• ³⁶ Bioinformatics and Translational Genetics, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.
• ³⁷ Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
• ³⁸ Lifebit Biotech Ltd., London, UK.
• ³⁹ William Harvey Research Institute, Queen Mary University of London, London, UK.
• ⁴⁰ Global Alliance for Genomics and Health, N/A, Toronto, Ontario, Canada.
• ⁴¹ 40Medicine Department, University of Cambridge, Cambridge, UK.
• ⁴² Respiratory Medicine Department, Addenbrooke's Hospital, Cambridge, UK.
• ⁴³ Cambridge Centre for Lung Infection, Royal Papworth Hospital, Cambridge, UK.
• ⁴⁴ The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
• ⁴⁵ Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.
• ⁴⁶ Departments of Medicine and Biomedical Informatics, Vanderbilt University, Nashville, TN, USA.
• ⁴⁷ Senckenberg-Leibniz Institution for Biodiversity and Earth System Research, Data and Modelling Centre, Frankfurt/Main, Germany.
• ⁴⁸ Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. melissa@tislab.org.
• ⁴⁹ Genomic Medicine, The Jackson Laboratory, Farmington, CT, USA. peter.robinson@jax.org.
• ⁵⁰ Institute for Systems Genomics, University of Connecticut, Farmington, CT, USA. peter.robinson@jax.org.