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The Human Phenotype Ontology in 2024: phenotypes around the world
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 The Human Phenotype Ontology in 2024 phenotypes around the world.pdf | Published version | 4.61 MB | Adobe PDF | View/Open |
| Title: | The Human Phenotype Ontology in 2024: phenotypes around the world |
| Authors: | Gargano, MA Matentzoglu, N Coleman, B Addo-Lartey, EB Anagnostopoulos, AV Anderton, J Avillach, P Bagley, AM Bakštein, E Balhoff, JP Baynam, G Bello, SM Berk, M Bertram, H Bishop, S Blau, H Bodenstein, DF Botas, P Boztug, K Čady, J Callahan, TJ Cameron, R Carbon, SJ Castellanos, F Caufield, JH Chan, LE Chute, CG Cruz-Rojo, J Dahan-Oliel, N Davids, JR De Dieuleveult, M De Souza, V De Vries, BBA De Vries, E DePaulo, JR Derfalvi, B Dhombres, F Diaz-Byrd, C Dingemans, AJM Donadille, B Duyzend, M Elfeky, R Essaid, S Fabrizzi, C Fico, G Firth, HV Freudenberg-Hua, Y Fullerton, JM Gabriel, DL Gilmour, K Giordano, J Goes, FS Moses, RG Green, I Griese, M Groza, T Gu, W Guthrie, J Gyori, B Hamosh, A Hanauer, M Hanušová, K He, YO Hegde, H Helbig, I Holasová, K Hoyt, CT Huang, S Hurwitz, E Jacobsen, JOB Jiang, X Joseph, L Keramatian, K King, B Knoflach, K Koolen, DA Kraus, ML Kroll, C Kusters, M Ladewig, MS Lagorce, D Lai, M-C Lapunzina, P Laraway, B Lewis-Smith, D Li, X Lucano, C Majd, M Marazita, ML Martinez-Glez, V McHenry, TH McInnis, MG McMurry, JA Mihulová, M Millett, CE Mitchell, PB Moslerová, V Narutomi, K Nematollahi, S Nevado, J Nierenberg, AA Čajbiková, NN Nurnberger, JI Ogishima, S Olson, D Ortiz, A Pachajoa, H Perez de Nanclares, G Peters, A Putman, T Rapp, CK Rath, A Reese, J Rekerle, L Roberts, AM Roy, S Sanders, SJ Schuetz, C Schulte, EC Schulze, TG Schwarz, M Scott, K Seelow, D Seitz, B Shen, Y Similuk, MN Simon, ES Singh, B Smedley, D Smith, CL Smolinsky, JT Sperry, S Stafford, E Stefancsik, R Steinhaus, R Strawbridge, R Sundaramurthi, JC Talapova, P Tenorio Castano, JA Tesner, P Thomas, RH Thurm, A Turnovec, M Van Gijn, ME Vasilevsky, NA Vlčková, M Walden, A Wang, K Wapner, R Ware, JS Wiafe, AA Wiafe, SA Wiggins, LD Williams, AE Wu, C Wyrwoll, MJ Xiong, H Yalin, N Yamamoto, Y Yatham, LN Yocum, AK Young, AH Yüksel, Z Zandi, PP Zankl, A Zarante, I Zvolský, M Toro, S Carmody, LC Harris, NL Munoz-Torres, MC Danis, D Mungall, CJ Köhler, S Haendel, MA Robinson, PN |
| Item Type: | Journal Article |
| Abstract: | 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. |
| Issue Date: | 5-Jan-2024 |
| Date of Acceptance: | 19-Oct-2023 |
| URI: | http://hdl.handle.net/10044/1/108678 |
| DOI: | 10.1093/nar/gkad1005 |
| ISSN: | 0305-1048 |
| Publisher: | Oxford University Press |
| Start Page: | D1333 |
| End Page: | D1346 |
| Journal / Book Title: | Nucleic Acids Research |
| Volume: | 52 |
| Issue: | D1 |
| Copyright Statement: | © The Author(s) 2023. Published by Oxford University Press on behalf of Nucleic Acids Research. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. |
| Publication Status: | Published |
| Conference Place: | England |
| Online Publication Date: | 2023-11-11 |
| Appears in Collections: | National Heart and Lung Institute Institute of Clinical Sciences |
This item is licensed under a Creative Commons License
