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Open Access
Peer-reviewed
Research Article
Phenopacket-tools: Building and validating GA4GH Phenopackets
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Daniel Danis ,
Roles Conceptualization, Formal analysis, Investigation, Methodology, Software, Writing – original draft, Writing – review & editing
* E-mail: daniel.danis@jax.org (DD); peter.robinson@jax.org (PNR)
Affiliation The Jackson Laboratory for Genomic Medicine, Farmington, CT, United States of America
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Julius O. B. Jacobsen,
Roles Investigation, Methodology, Software
Affiliation William Harvey Research Institute, Queen Mary University of London, London, United Kingdom
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Alex H. Wagner,
Roles Methodology, Software, Writing – review & editing
Affiliations Departments of Pediatrics and Biomedical Informatics, The Ohio State University College of Medicine, Columbus, OH, United States of America, The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children’s Hospital, Columbus, OH, United States of America
⨯ - Tudor Groza,
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Martha A. Beckwith,
Roles Software
Affiliation The Jackson Laboratory for Genomic Medicine, Farmington, CT, United States of America
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Lauren Rekerle,
Roles Software
Affiliation The Jackson Laboratory for Genomic Medicine, Farmington, CT, United States of America
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Leigh C. Carmody,
Roles Data curation
Affiliation The Jackson Laboratory for Genomic Medicine, Farmington, CT, United States of America
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Justin Reese,
Roles Software
Affiliation Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, United States of America
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Harshad Hegde,
Roles Software
Affiliation Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, United States of America
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Markus S. Ladewig,
Roles Data curation, Software
Affiliation Department of Ophthalmology, Klinikum Saarbrücken, Saarbrücken, Germany
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Berthold Seitz,
Roles Data curation
Affiliation Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany
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Monica Munoz-Torres,
Roles Project administration
Affiliation Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, United States of America
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Nomi L. Harris,
Roles Project administration, Writing – review & editing
Affiliation Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, United States of America
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Jordi Rambla,
Roles Investigation, Writing – review & editing
Affiliation European Genome-Phenome Archive (EGA) in the Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain
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Michael Baudis,
Roles Investigation, Writing – review & editing
Affiliation University of Zurich and Swiss Institute of Bioinformatics, Zurich, Switzerland
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Christopher J. Mungall,
Roles Conceptualization, Writing – review & editing
Affiliation Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, United States of America
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Melissa A. Haendel,
Roles Conceptualization, Writing – review & editing
Affiliation Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, United States of America
⨯ - [ ... ],
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Peter N. Robinson
Roles Conceptualization, Funding acquisition, Methodology, Software, Writing – original draft, Writing – review & editing
* E-mail: daniel.danis@jax.org (DD); peter.robinson@jax.org (PNR)
Affiliations The Jackson Laboratory for Genomic Medicine, Farmington, CT, United States of America, Institute for Systems Genomics, University of Connecticut, Farmington, CT, United States of America
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Phenopacket-tools: Building and validating GA4GH Phenopackets
- Daniel Danis,
- Julius O. B. Jacobsen,
- Alex H. Wagner,
- Tudor Groza,
- Martha A. Beckwith,
- Lauren Rekerle,
- Leigh C. Carmody,
- Justin Reese,
- Harshad Hegde,
- Markus S. Ladewig
- Published: May 17, 2023
- https://doi.org/10.1371/journal.pone.0285433