-
Autor
Addo-Lartey, Eunice B 1 Anagnostopoulos, Anna V 1 Anderton, Joel 1 Avillach, Paul 1 Bagley, Anita M 1 Bakštein, Eduard 1 Balhoff, James P 1 Baynam, Gareth 1 Bello, Susan M 1 Berk, Michael 1 Bertram, Holli 1 Bishop, Somer 1 Blau, Hannah 1 Bodenstein, David F 1 Botas, Pablo 1 Boztug, Kaan 1 Callahan, Tiffany J 1 Cameron, Rhiannon 1 Carbon, Seth J 1 Carmody, Leigh C 1
-
Pracoviště
Ada Health GmbH Berlin Germany 1 Addenbrooke's Hospital Cambridge Univ... 1 Bipolar and Depressive Disorders Unit... 1 Campbell Family Mental Health Researc... 1 Center for Craniofacial and Dental Ge... 1 Center for Genomic Medicine Parc Taul... 1 Centre for Regenerative Medicine Inst... 1 Centro de Investigaciones en Anomalía... 1 Chinese HPO Consortium Beijing China 1 College of Public Health and Human Sc... 1 Critical Path Institute Tucson AZ USA 1 Data Collaboration Center Data Scienc... 1 Database Center for Life Science Join... 1 Dauten Family Center for Bipolar Trea... 1 Deakin University IMPACT the Institut... 1 Department of Biology and Medical Gen... 1 Department of Biomedical Informatics ... 1 Department of Biomedical Informatics ... 1 Department of Clinical Research Shrin... 1 Department of Genetic Medicine Johns ... 1
- Publikační typ
- Check Tag
- Kategorie
- Jazyk
- Země
- Časopis/zdroj
- Země - grant
- Grantová agentura
- Nejvíce citované
-
Autor
Addo-Lartey, Eunice B 1 Anagnostopoulos, Anna V 1 Anderton, Joel 1 Avillach, Paul 1 Bagley, Anita M 1 Bakštein, Eduard 1 Balhoff, James P 1 Baynam, Gareth 1 Bello, Susan M 1 Berk, Michael 1 Bertram, Holli 1 Bishop, Somer 1 Blau, Hannah 1 Bodenstein, David F 1 Botas, Pablo 1 Boztug, Kaan 1 Callahan, Tiffany J 1 Cameron, Rhiannon 1 Carbon, Seth J 1 Carmody, Leigh C 1
-
Pracoviště
Ada Health GmbH Berlin Germany 1 Addenbrooke's Hospital Cambridge Univ... 1 Bipolar and Depressive Disorders Unit... 1 Campbell Family Mental Health Researc... 1 Center for Craniofacial and Dental Ge... 1 Center for Genomic Medicine Parc Taul... 1 Centre for Regenerative Medicine Inst... 1 Centro de Investigaciones en Anomalía... 1 Chinese HPO Consortium Beijing China 1 College of Public Health and Human Sc... 1 Critical Path Institute Tucson AZ USA 1 Data Collaboration Center Data Scienc... 1 Database Center for Life Science Join... 1 Dauten Family Center for Bipolar Trea... 1 Deakin University IMPACT the Institut... 1 Department of Biology and Medical Gen... 1 Department of Biomedical Informatics ... 1 Department of Biomedical Informatics ... 1 Department of Clinical Research Shrin... 1 Department of Genetic Medicine Johns ... 1
- Publikační typ
- Check Tag
- Kategorie
- Jazyk
- Země
- Časopis/zdroj
- Země - grant
- Grantová agentura
- Nejvíce citované
PubMed
37953324
PubMed Central
PMC10767975
DOI
10.1093/nar/gkad1005
PII: 7416384
Knihovny.cz E-zdroje
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.
Sdílet
Název dokumentu
Po ukončení testovacího provozu bude odkaz přesměrován adresu produkční verze portálu Medvik.