Accès ouvert déclaré 2023 article

The Human Phenotype Ontology in 2024: phenotypes around the world

Michael Gargano, Nicolas Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V. Anagnostopoulos, Joel Anderton, Paul Avillach, Anita Bagley, Eduard Bakštein, James P. Balhoff, Gareth Baynam, Susan M. Bello, Michael Berk, Holli Bertram, Somer Bishop, Hannah Blau, David F. Bodenstein, Pablo Botas, Kaan Boztuǧ, J Cady, Tiffany J. Callahan, Rhiannon Cameron, Seth Carbon, F Castellanos, J. Harry Caufield, Lauren Chan, Christopher G. Chute, Noémi Dahan‐Oliel, Jon R. Davids, Maud de Dieuleveult, Vinícius de Souza, Bert B.A. de Vries, Esther de Vries, J. Raymond DePaulo, Beáta Dérfalvi, Ferdinand Dhombres, Claudia Diaz‐Byrd, Alexander J.M. Dingemans, Bruno Donadille, Michael Duyzend, Reem Elfeky, Shahim Essaid, Carolina Fabrizzi, Giovanna Fico, Helen V. Firth, Yun Freudenberg‐Hua, Janice M. Fullerton, Davera Gabriel, Kimberly Gilmour, Jessica L. Giordano, Fernando S. Goes, Rachel Gore Moses, Ian Green, Matthias Griese, Tudor Groza, Weihong Gu, Julia Guthrie, Benjamin M. Gyori, Ada Hamosh, Marc Hanauer, Kateřina Hanušová, Yongqun He, Harshad Hegde, Ingo Helbig, Kateřina Holasová, Charles Tapley Hoyt, Shangzhi Huang, Eric Hurwitz, Julius O.B. Jacobsen, Xiaofeng Jiang, Lisa Joseph, Kamyar Keramatian, Bryan King, Katrin Knoflach, David A. Koolen, Megan L Kraus, Carlo Kroll, Maaike Kusters, Markus S. Ladewig, David Lagorce, Meng‐Chuan Lai, Pablo Lapunzina, Bryan Laraway, David Lewis‐Smith, Xiarong Li, Caterina Lucano, Marzieh Majd, Mary L. Marazita, Víctor Martínez‐Glez, Toby H McHenry, Melvin G. McInnis, Julie A. McMurry, Michaela Mihulová, Caitlin E. Millett, Philip B. Mitchell, Veronika Moslerová, Kenji Narutomi, Shahrzad Nematollahi, Julián Nevado, Andrew A. Nierenberg, Nikola Novák Čajbiková, John I. Nürnberger, Soichi Ogishima, Daniel Olson, Abigail Ortiz, Harry Pachajoa, Guiomar Pérez de Nanclares, Amy T. Peters, Tim Putman, Christina Rapp, Ana Rath, Justin Reese, Lauren Rekerle, Angharad M. Roberts, Suzy Roy, Stephan Sanders, Catharina Schuetz, Eva C. Schulte, Thomas G. Schulze, Martin Schwarz, Katie Scott, Dominik Seelow, Berthold Seitz, Yiping Shen, Morgan Similuk, Eric S. Simon, Balwinder Singh, Damian Smedley, Cynthia L. Smith, Jake T Smolinsky, Sarah H. Sperry, Elizabeth Stafford, Ray Stefancsik, Robin Steinhaus, Rebecca Strawbridge, Jagadish Chandrabose Sundaramurthi, Polina Talapova, Pavel Tesner, Rhys H. Thomas, Audrey Thurm, Marek Turnovec, Mariëlle van Gijn, Nicole Vasilevsky, Markéta Vlčková, Anita Walden, Kai Wang, Ronald J. Wapner, James S. Ware, Addo A Wiafe, Samuel Agyei Wiafe, Lisa D. Wiggins, Andrew E. Williams, Chen Wu, Margot J. Wyrwoll, Hui Xiong, Nefize Yalın, Yasunori Yamamoto, Lakshmi N. Yatham, Anastasia K. Yocum, Allan H. Young, Zafer Yüksel, Peter P. Zandi, Andreas Zankl, Ignacio Zarante, Miroslav Zvolský, Sabrina Toro, Leigh Carmody, Nomi L. Harris, Mónica Muñoz-Torres, Daniel Daniš, Chris Mungall, Sebastian Köhler, Melissa Haendel, Peter N. Robinson

414Citations signalées, ce qui n’est pas une note de qualité

99Institutions déclarées

13Pays d’affiliation déclarés

Rattachement africain : us, Ghana, cz, au, ca, at, es, fr, gb, nl, de, jp, co. Niveau de preuve : code pays fourni par la source.

Le résumé fourni par la source

The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs.

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Le contrôle bibliographique ouvert

DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.

Titre Crossref: The Human Phenotype Ontology in 2024: phenotypes around the world
Date Crossref: 11/11/2023
Éditeur: Oxford University Press (OUP)
Type: journal-article

Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.

Les institutions déclarées

Jackson Laboratory The Jackson Laboratory for Genomic Medicine Ghana Health Service University of Pittsburgh Harvard University Shriners Hospitals for Children - Northern California National Institute of Mental Health Renaissance Computing Institute Princess Margaret Hospital for Children Perth Children's Hospital Barwon Health Deakin University University of Michigan University of Toronto St Anna Children's Hospital St. Anna Children's Cancer Research Institute Institute of Health Information and Statistics Columbia University Irving Medical Center Simon Fraser University Lawrence Berkeley National Laboratory Oregon State University Johns Hopkins University Research Institute Hospital 12 de Octubre Shriners Hospitals for Children - Canada Assistance Publique – Hôpitaux de Paris European Bioinformatics Institute Radboud University Nijmegen Radboud University Medical Center Tilburg University Johns Hopkins Medicine Dalhousie University Inserm Sorbonne Université IMAGES : La médecine de la femme et de l’enfant assistée par l’image Laboratoire d'Informatique Médicale et d'Ingénierie des Connaissances en e-Santé Massachusetts General Hospital Great Ormond Street Hospital for Children NHS Foundation Trust University College London University of Colorado Anschutz Orphanet Universitat de Barcelona University of Cambridge Addenbrooke's Hospital Northwell Health Feinstein Institute for Medical Research Neuroscience Research Australia Great Ormond Street Hospital National Institutes of Health National Institute of Allergy and Infectious Diseases German Center for Lung Research Ludwig-Maximilians-Universität München University of Vienna Max Perutz Labs Northeastern University Children's Hospital of Philadelphia Queen Mary University of London William Harvey Research Institute National Institute of Mental Health University of British Columbia Centre for Addiction and Mental Health Hospital Universitario La Paz Newcastle University Brigham and Women's Hospital Corporació Sanitària Parc Taulí Institute of Research and Innovation Parc Tauli Charles University UNSW Sydney Children's Medical Center McGill University Indiana University School of Medicine Indiana University – Purdue University Indianapolis Tohoku University Critical Path Institute Icesi University Hospital Universitario Araba MRC London Institute of Medical Sciences Imperial College London University of Oxford University Hospital Carl Gustav Carus Technische Universität Dresden SUNY Upstate Medical University Berlin Institute of Health at Charité - Universitätsmedizin Berlin Saarland University Mayo Clinic WinnMed Rutgers, The State University of New Jersey National Alliance on Mental Illness King's College London Tufts University University Medical Center Groningen Centers for Disease Control and Prevention National Center on Birth Defects and Developmental Disabilities MRC Centre for Regenerative Medicine University of Edinburgh Research Organization of Information and Systems South London and Maudsley NHS Foundation Trust Bethlem Royal Hospital The University of Sydney Pontificia Universidad Javeriana

Une affiliation ne permet pas de déduire la nationalité d’un auteur.

Les sujets associés

Genomics and Rare DiseasesRNA modifications and cancerNeurogenetic and Muscular Disorders Research

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