The Human Phenotype Ontology in 2017
| العنوان: | The Human Phenotype Ontology in 2017 |
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| المؤلفون: | Rachel Thompson, Stanley J. F. Laulederkind, Richard H. Scott, Panagiotis I. Sergouniotis, Ada Hamosh, Mark Engelstad, Hanns Lochmüller, Gareth Baynam, Richard Sever, Roger James, Hugh Dawkins, Laureen E. Connell, C. Turner, Andrew D. Devereau, Susan M. Bello, Michael Brudno, Courtney Hum, Cynthia L. Smith, Julie A. McMurry, Michael M. Segal, Damian Smedley, Gholson J. Lyon, Helen V. Firth, Ingo Helbig, Tom Vulliamy, Roland Krause, Patrick F. Chinnery, Franz Schaefer, Ernest Turro, Melissa A. Haendel, Cornelius F. Boerkoel, Peter N. Robinson, Willem H. Ouwehand, Orion J. Buske, Kym M. Boycott, Volker Straub, Bert B.A. de Vries, Daniel Greene, Valentina Cipriani, Erin D. Foster, Annie Olry, Julius O.B. Jacobsen, Laura E. DeMare, Marijcke W. M. Veltman, Nikolas Pontikos, Andreas Zankl, Tudor Groza, Kathleen Freson, Sebastian Köhler, Ana Rath, Nicole Vasilevsky, Julie von Ziegenweidt, Ségolène Aymé, Soichi Ogishima, Johanna A. Jähn, Jing Yu, Tomasz Zemojtel, Stephan Züchner, Christopher J. Mungall |
| المصدر: | Köhler, S, Vasilevsky, N A, Engelstad, M, Foster, E, McMurry, J, Aymé, S, Baynam, G, Bello, S M, Boerkoel, C F, Boycott, K M, Brudno, M, Buske, O J, Chinnery, P F, Cipriani, V, Connell, L E, Dawkins, H J S, DeMare, L E, Devereau, A D, De Vries, B B A, Firth, H V, Freson, K, Greene, D, Hamosh, A, Helbig, I, Hum, C, Jähn, J A, James, R, Krause, R, Laulederkind, S J F, Lochmüller, H, Lyon, G J, Ogishima, S, Olry, A, Ouwehand, W H, Pontikos, N, Rath, A, Schaefer, F, Scott, R H, Segal, M, Sergouniotis, P I, Sever, R, Smith, C L, Straub, V, Thompson, R, Turner, C, Turro, E, Veltman, M W M, Vulliamy, T, Yu, J, Von Ziegenweidt, J, Zankl, A, Züchner, S, Zemojtel, T, Jacobsen, J O B, Groza, T, Smedley, D, Mungall, C J, Haendel, M & Robinson, P N 2017, ' The Human Phenotype Ontology in 2017 ', Nucleic acids research, vol. 45, no. D1, pp. D865-D876 . https://doi.org/10.1093/nar/gkw1039Test Nucleic Acids Research Nucleic Acids Research, 45, D1, pp. D865-d876 Köhler, S; Vasilevsky, NA; Engelstad, M; Foster, E; McMurry, J; Aymé, S; et al.(2017). The human phenotype ontology in 2017. Nucleic Acids Research, 45(D1), D865-D876. doi: 10.1093/nar/gkw1039. Lawrence Berkeley National Laboratory: Lawrence Berkeley National Laboratory. Retrieved from: http://www.escholarship.org/uc/item/2w17n1ntTest Nucleic Acids Research, 45, D865-d876 Nucleic Acids Research. (2016). |
| بيانات النشر: | Oxford University Press (OUP), 2016. |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | 0301 basic medicine, Multidisciplinaire, généralités & autres [D99] [Sciences de la santé humaine], Genomics, Translational research, Computational biology, Biology, Ontology (information science), Terminology, Translational Research, Biomedical, 03 medical and health sciences, Rare Diseases, Human Phenotype Ontology, Genetics, Database Issue, Humans, Precision Medicine, Multidisciplinary, general & others [D99] [Human health sciences], Genetic Association Studies, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Computational Biology, Biological Ontologies, Precision medicine, Phenotype, 3. Good health, 030104 developmental biology, Algorithms, Software |
| الوصف: | 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. ispartof: Nucleic Acids Research vol:45 issue:D1 pages:D865-D876 ispartof: location:England status: published |
| وصف الملف: | application/pdf; Print-Electronic |
| تدمد: | 1362-4962 0305-1048 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2949ed30b7148e6f5cc842edf930f06fTest https://doi.org/10.1093/nar/gkw1039Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....2949ed30b7148e6f5cc842edf930f06f |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 13624962 03051048 |
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