GA4GH Phenopackets: A Practical Introduction

Author:

Ladewig Markus S.1,Jacobsen Julius O. B.2,Wagner Alex H.34,Danis Daniel5,El Kassaby Baha5,Gargano Michael5,Groza Tudor6,Baudis Michael7,Steinhaus Robin89,Seelow Dominik89,Bechrakis Nikolaos E.10,Mungall Christopher J.11,Schofield Paul N.1213,Elemento Olivier14,Smith Lindsay1516,McMurry Julie A.17,Munoz‐Torres Monica17,Haendel Melissa A.17,Robinson Peter N.518ORCID

Affiliation:

1. Department of Ophthalmology Klinikum Saarbrücken 66119 Saarbrücken Germany

2. William Harvey Research Institute Charterhouse Square Barts and the London School of Medicine and Dentistry Queen Queen Mary University of London London EC1M 6BQ UK

3. Departments of Pediatrics and Biomedical Informatics The Ohio State University College of Medicine Columbus OH 43210 USA

4. The Steve and Cindy Rasmussen Institute for Genomic Medicine Nationwide Children's Hospital Columbus OH 43215 USA

5. The Jackson Laboratory for Genomic Medicine 10 Discovery Drive Farmington CT 06032 USA

6. European Molecular Biology Laboratory European Bioinformatics Institute (EMBL‐EBI) Cambridge CB10 1SD UK

7. Department of Molecular Life Sciences and Swiss Institute of Bioinformatics University of Zurich Zurich Switzerland

8. Exploratory Diagnostic Sciences Berlin Institute of Health at Charité – Universitätsmedizin Berlin 10178 Berlin Germany

9. Institute of Medical Genetics and Human Genetics Charité – Universitätsmedizin Berlin Corporate Member of Freie Universität Berlin and Humboldt‐Universität zu Berlin 13353 Berlin Germany

10. Department of Ophthalmology University Clinic Essen 45147 Essen Germany

11. Lawrence Berkeley National Laboratory Environmental Genomics and Systems Biology Berkeley CA 94720 USA

12. Department of Physiology Development and Neuroscience University of Cambridge Downing Street Cambridge CB2 3EG UK

13. The Jackson Laboratory Bar Harbor ME 04609 USA

14. Caryl and Israel Englander Institute for Precision Medicine Weill Cornell Medicine New York NY 10021 USA

15. Ontario Institute for Cancer Research Adaptive Oncology Toronto CA M5G0A3 USA

16. Global Alliance for Genomics and Health Toronto CA M5G0A3 USA

17. Center for Health AI University of Colorado Anschutz Medical Campus Aurora CO 80045 USA

18. Institute for Systems Genomics University of Connecticut Farmington CT 06032 USA

Funder

National Institutes of Health

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics,Molecular Biology,Biochemistry

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