Journal article
The Human Phenotype Ontology in 2024: phenotypes around the world
- Abstract:
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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...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Preview, Version of record, pdf, 4.5MB, Terms of use)
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- Publisher copy:
- 10.1093/nar/gkad1005
Authors
Funding
+ National Institute of Dental and Craniofacial Research
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Funder identifier:
https://ror.org/004a2wv92
+ National Institute of Mental Health
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Funder identifier:
https://ror.org/04xeg9z08
+ Eunice Kennedy Shriver National Institute of Child Health and Human Development
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Funder identifier:
https://ror.org/04byxyr05
+ United States Department of Energy
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Funder identifier:
https://ror.org/01bj3aw27
Bibliographic Details
- Publisher:
- Oxford University Press
- Journal:
- Nucleic Acids Research More from this journal
- Volume:
- 52
- Issue:
- D1
- Pages:
- D1333-D1346
- Publication date:
- 2023-11-11
- Acceptance date:
- 2023-10-19
- DOI:
- EISSN:
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1362-4962
- ISSN:
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0305-1048
Item Description
- Language:
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English
- Source identifiers:
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1922908
- Deposit date:
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2024-07-20
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