Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky, Julius O.B. Jacobsen, Daniel Daniš, Jean-Philippe F. Gourdine, Michael Gargano, Nomi L. Harris, Nicolas Matentzoglu, Julie A. McMurry, David Osumi-Sutherland, Valentina Cipriani, James P. Balhoff, Tom Conlin, Hannah Blau, Gareth Baynam, R. Palmer, Dylan Gratian, Hugh Dawkins, Michael M. Segal, Anna Jansen, Ahmed Muaz, Willie Chang, Jenna Bergerson, Stanley J. F. Laulederkind, Zafer Yüksel, Sergi Beltrán, Alexandra F. Freeman, Panagiotis I. Sergouniotis, Daniel W. Durkin, Andrea L. Storm, Marc Hanauer, Michael Brudno, Susan M. Bello, Murat Sincan, Kayli Rageth, Matthew T. Wheeler, Renske Oegema, Halima Lourghi, Maria G. Della Rocca, Rachel Thompson, F Castellanos, James R. Priest, Charlotte Cunningham‐Rundles, Ayushi Hegde, Ruth C. Lovering, Catherine Hajek, Annie Olry, Luigi D. Notarangelo, Morgan Similuk, Xingmin Zhang, David Gómez‐Andrés, Hanns Lochmüller, Hélène Dollfus, Sergio D. Rosenzweig, Shruti Marwaha, Ana Rath, Kathleen E. Sullivan, Cynthia L. Smith, Joshua D. Milner, Dorothée Leroux, Cornelius F. Boerkoel, Amy D. Klion, Melody C. Carter, Tudor Groza, Damian Smedley, Melissa Haendel, Chris Mungall, Peter N. Robinson

Nucleic Acids Research, 2018

Humboldt-Universität zu Berlin, Einstein Center Digital Future, Freie Universität Berlin, Charité - Universitätsmedizin Berlin, Jackson Laboratory, Oregon Health & Science University, Queen Mary University of London, Genomics England, Lawrence Berkeley National Laboratory, European Bioinformatics Institute, Wellcome Trust, Oregon State University, Institute of Ophthalmology, William Harvey Research Institute, University College London, University of North Carolina at Chapel Hill, Renaissance Computing Institute, The Kids Research Institute Australia, Murdoch University, The University of Western Australia, Curtin University, Government of Western Australia, CRC for Spatial information, Government of Western Australia Department of Health, SimulConsult, Vrije Universiteit Brussel, Universitair Ziekenhuis Brussel, Garvan Institute of Medical Research, University of Toronto, Hospital for Sick Children, SickKids Foundation, National Institutes of Health, National Institute of Allergy and Infectious Diseases, Marquette University, Medical College of Wisconsin, Universitat Pompeu Fabra, Centre for Genomic Regulation, Manchester Royal Eye Hospital, University of Manchester, National Center for Advancing Translational Sciences, ICF International (United States), Inserm, Orphanet, Sanford Health, Stanford University, University Medical Center Utrecht, Newcastle University, Icahn School of Medicine at Mount Sinai, Vall d'Hebron Institut de Recerca, University of Ottawa, University of Freiburg, Children's Hospital of Eastern Ontario, Ottawa Hospital, University Medical Center Freiburg, Université de Strasbourg, National Institutes of Health Clinical Center, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia University, University of Connecticut

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Abstract

This research paper explore the methodology and findings associated with Nucleic Acids Research. The study delves into the core aspects of the research field, providing significant data and citation impact. (Full abstract processing is available via the OpenAlex API).

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Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

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