Phenopacket-tools: Building and validating GA4GH Phenopackets.
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| Title: | Phenopacket-tools: Building and validating GA4GH Phenopackets. |
|---|---|
| Authors: | Danis D; The Jackson Laboratory for Genomic Medicine, Farmington, CT, United States of America., Jacobsen JOB; William Harvey Research Institute, Queen Mary University of London, London, United Kingdom., Wagner AH; 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., Groza T; EMBL-EBI, Cambridge, United Kingdom., Beckwith MA; The Jackson Laboratory for Genomic Medicine, Farmington, CT, United States of America., Rekerle L; The Jackson Laboratory for Genomic Medicine, Farmington, CT, United States of America., Carmody LC; The Jackson Laboratory for Genomic Medicine, Farmington, CT, United States of America., Reese J; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, United States of America., Hegde H; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, United States of America., Ladewig MS; Department of Ophthalmology, Klinikum Saarbrücken, Saarbrücken, Germany., Seitz B; Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany., Munoz-Torres M; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, United States of America., Harris NL; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, United States of America., Rambla J; European Genome-Phenome Archive (EGA) in the Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain., Baudis M; University of Zurich and Swiss Institute of Bioinformatics, Zurich, Switzerland., Mungall CJ; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, United States of America., Haendel MA; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, United States of America., Robinson PN; 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. |
| Source: | PloS one [PLoS One] 2023 May 17; Vol. 18 (5), pp. e0285433. Date of Electronic Publication: 2023 May 17 (Print Publication: 2023). |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S. |
| Journal Info: | Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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