期刊
NUCLEIC ACIDS RESEARCH
卷 45, 期 D1, 页码 D865-D876出版社
OXFORD UNIV PRESS
DOI: 10.1093/nar/gkw1039
关键词
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资金
- National Institutes of Health (NIH) Monarch Initiative [5R24OD011883]
- U.S. Department of Energy [DE-AC02-05CH11231]
- Bundesministerium fur Bildung und Forschung (BMBF) [0313911]
- Raine Clinician Research Fellowship
- European Union Seventh Framework Programme [FP7/2007-2013]
- RD-Connect [305444]
- National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital National Health Service Foundation Trust
- UCL Institute of Ophthalmology
- German Research Foundation [HE5415/3-1, HE5415/5-1, HE5415/6-1]
- EuroEPINOMICS framework of the European Science Foundation
- German Ministry for Education and Research [01DH12033]
- National Library of Medicine [R44LM011585-02]
- Dutch Organisation for Health Research and Development [912-12-109]
- NIH [R24OD011883]
- E-RARE 2015 program, Hipbi-RD
- Stanley Institute for Cognitive Genomics at Cold Spring Harbor Laboratory
- EURenOmics [2012-305608]
- NeurOmics [2012-305121]
- MRC [G1002274] Funding Source: UKRI
- British Heart Foundation [RG/09/012/28096] Funding Source: researchfish
- Medical Research Council [1125070, MR/N027302/1, G1002274] Funding Source: researchfish
- National Institute for Health Research [RP-PG-0310-1002, NF-SI-0510-10214, ACF-2013-06-009, NF-SI-0513-10151] Funding Source: researchfish
- Grants-in-Aid for Scientific Research [16K00385, 26240044] Funding Source: KAKEN
Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The three components of the Human Phenotype Ontology (HPO; www.human-phenotype-ontology.org) project are the phenotype vocabulary, disease-phenotype annotations and the algorithms that operate on these. These components are being used for computational deep phenotyping and precision medicine as well as integration of clinical data into translational research. The HPO is being increasingly adopted as a standard for phenotypic abnormalities by diverse groups such as international rare disease organizations, registries, clinical labs, biomedical resources, and clinical software tools and will thereby contribute toward nascent efforts at global data exchange for identifying disease etiologies. This update article reviews the progress of the HPO project since the debut Nucleic Acids Research database article in 2014, including specific areas of expansion such as common (complex) disease, new algorithms for phenotype driven genomic discovery and diagnostics, integration of cross-species mapping efforts with the Mammalian Phenotype Ontology, an improved quality control pipeline, and the addition of patient-friendly terminology.
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