التفاصيل البيبلوغرافية
| العنوان: |
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources |
| المؤلفون: |
Köhler, Sebastian, Carmody, Leigh, Vasilevsky, Nicole, Jacobsen, Julius O. B., Danis, Daniel, Gourdine, Jean-Philippe, Gargano, Michael A., Harris, Nomi, Matentzoglu, Nicolas, McMurry, Julie A., Osumi-Sutherland, David, Cipriani, Valentina, Balhoff, James P., Conlin, Tom, Blau, Hannah, Baynam, Gareth, Palmer, Richard, Gratian, Dylan, Dawkins, Hugh, Segal, Michael, Jansen, Anna, Muaz, Ahmed, Chang, Willie H., Bergerson, Jenna, Laulederkind, Stanley, Yüksel, Z., Beltran i Agulló, Sergi, Freeman, Alexandra F., Sergouniotis, Panos, Durkin, Daniel, Storm, Andrea L., Hanauer, Marc, Brudno, Michael, Bello, Susan, Sincan, Murat, Rageth, Kayli, Wheeler, Matthew T., Oegema, Renske, Lourghi, Halima, Della Rocca, Maria G., Thompson, R., Castellanos, Francisco, Priest, James, Cunningham-Rundles, Charlotte, Hegde, Ayushi, Lovering, Ruth Caroline, Hajek, Catherine, Olry, Annie, Notarangelo, Luigi, Similuk, Morgan, Zhang, Xingmin, Gómez-Andrés, David, Lochmüller, Hanns, Dollfus, Hélène, Rosenzweig, Sergio, Marwaha, Shruti, Rath, Ana, Sullivan, Kathleen, Smith, Cynthia, Milner, Joshua D., Leroux, Dorothée, Boerkoel, Cornelius, Klion, Amy, Carter, Melody C., Groza, Tudor, Smedley, Damian, Haendel, Melissa Anne, Mungall, Christopher, Robinson, Peter N., Universitat Autònoma de Barcelona |
| سنة النشر: |
2019 |
| المجموعة: |
Universitat Autònoma de Barcelona: Dipòsit Digital de Documents de la UAB |
| مصطلحات موضوعية: |
Biological Ontologies, Computational Biology, Congenital Abnormalities, Databases, Genetic, Genetic Predisposition to Disease, Genetic Variation, Humans, Internet, Knowledge Bases, Phenotype, Rare Diseases, Whole Genome Sequencing |
| الوصف: |
National Institutes of Health (NIH), Monarch Initiative [OD #5R24OD011883]; Forums for Integrative Phenomics [U13 CA221044-01]; NCATS Data Translator [1OT3TR002019]; NCATS National Center for Digital Health Informatics Innovation [U24 TR002306];NIH Data Commons [1 OT3 OD02464-01 UNCCH]; Cost Action CA 16118 Neuro-MIG; British Heart Foundation Programme Grant [RG/13/5/30112]; Division of Intramural Research; NIAID; NIH; E-RARE project Hipbi-RD [01GM1608]; European Union's Horizon 2020 Research and Innovation Programme [779257]. Funding for open access charge: NIH; Donald A. Roux Family Fund (to P.N.R.). ; The Human Phenotype Ontology (HPO) - a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases - is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. Its detailed descriptions of clinical abnormalities and computable disease definitions have made HPO the de facto standard for deep phenotyping in the field of rare disease. The HPO's interoperability with other ontologies has enabled it to be used to improve diagnostic accuracy by incorporating model organism data. It also plays a key role in the popular Exomiser tool, which identifies potential disease-causing variants from whole-exome or whole-genome sequencing data. Since the HPO was first introduced in 2008, its users have become both more numerous and more diverse. To meet these emerging needs, the project has added new content, language translations, mappings and computational tooling, as well as integrations with external community data. The HPO continues to collaborate with clinical adopters to improve specific areas of the ontology and extend standardized disease descriptions. The newly redesigned HPO website (www.human-phenotype-ontology.org) simplifies browsing terms and exploring clinical features, diseases, and human genes. |
| نوع الوثيقة: |
article in journal/newspaper |
| وصف الملف: |
application/pdf |
| اللغة: |
English |
| تدمد: |
13624962 |
| العلاقة: |
Nucleic acids research; Vol. 47 Núm. D1 (august 2019), p. D1018-D1027; https://ddd.uab.cat/record/223246Test; urn:10.1093/nar/gky1105; urn:oai:ddd.uab.cat:223246; urn:scopus_id:85059796063; urn:articleid:13624962v47nD1D1018; urn:pmid:30476213; urn:pmc-uid:6324074; urn:pmcid:PMC6324074; urn:oai:pubmedcentral.nih.gov:6324074 |
| الإتاحة: |
https://ddd.uab.cat/record/223246Test |
| حقوق: |
open access ; Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. ; https://creativecommons.org/licenses/by/4.0Test/ |
| رقم الانضمام: |
edsbas.264A9128 |
| قاعدة البيانات: |
BASE |
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