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Phenopacket-tools: Building and validating GA4GH Phenopackets.
Danis, Daniel; Jacobsen, Julius O B; Wagner, Alex H; Groza, Tudor; Beckwith, Martha A; Rekerle, Lauren; Carmody, Leigh C; Reese, Justin; Hegde, Harshad; Ladewig, Markus S; Seitz, Berthold; Munoz-Torres, Monica; Harris, Nomi L; Rambla, Jordi; Baudis, Michael; Mungall, Christopher J; Haendel, Melissa A; Robinson, Peter N.
Afiliação
  • 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.
  • Groza T; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, United States of America.
  • Beckwith MA; EMBL-EBI, Cambridge, United Kingdom.
  • 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; The Jackson Laboratory for Genomic Medicine, Farmington, CT, United States of America.
  • Hegde H; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, United States of America.
  • Ladewig MS; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, United States of America.
  • Seitz B; Department of Ophthalmology, Klinikum Saarbrücken, Saarbrücken, Germany.
  • Munoz-Torres M; Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany.
  • Harris NL; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, United States of America.
  • Rambla J; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, United States of America.
  • Baudis M; European Genome-Phenome Archive (EGA) in the Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.
  • Mungall CJ; University of Zurich and Swiss Institute of Bioinformatics, Zurich, Switzerland.
  • Haendel MA; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, United States of America.
  • Robinson PN; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, United States of America.
PLoS One ; 18(5): e0285433, 2023.
Article em En | MEDLINE | ID: mdl-37196000

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Software / Neoplasias Tipo de estudo: Guideline Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Software / Neoplasias Tipo de estudo: Guideline Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article