Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Köhler, Sebastian (Monarch Initiative)
Carmody, Leigh (Jackson Laboratory for Genomic Medicine)
Vasilevsky, Nicole (Oregon Health and Science University)
Jacobsen, Julius O. B. (Queen Mary University of London)
Danis, Daniel (Jackson Laboratory for Genomic Medicine)
Gourdine, Jean-Philippe (Oregon Health and Science University)
Gargano, Michael A. (Jackson Laboratory for Genomic Medicine)
Harris, Nomi (Lawrence Berkeley National Laboratory)
Matentzoglu, Nicolas (European Bioinformatics Institute)
McMurry, Julie A. (Oregon State University)
Osumi-Sutherland, David (European Bioinformatics Institute)
Cipriani, Valentina (University College of London)
Balhoff, James P. (University of North Carolina at Chapel Hill)
Conlin, Tom (Oregon State University)
Blau, Hannah (Jackson Laboratory for Genomic Medicine)
Baynam, Gareth (Government of Western Australia)
Palmer, Richard (Curtin University (Perth, Australia))
Gratian, Dylan (Government of Western Australia)
Dawkins, Hugh (Government of Western Australia)
Segal, Michael (SimulConsult)
Jansen, Anna (UZ Brussel)
Muaz, Ahmed (Darlinghurst)
Chang, Willie H. (Centre for Computational Medicine. Hospital for Sick Children. Department of Computer Science. University of Toronto)
Bergerson, Jenna (National Institutes of Health (Bethesda, Estats Units d'Amèrica))
Laulederkind, Stanley (Marquette University)
Yüksel, Z. (Bioscientia GmbH)
Beltran i Agulló, Sergi (Universitat Pompeu Fabra)
Freeman, Alexandra F. (National Institutes of Health (Bethesda, Estats Units d'Amèrica))
Sergouniotis, Panos (University of Manchester. Manchester Royal Eye Hospital)
Durkin, Daniel (Jackson Laboratory for Genomic Medicine)
Storm, Andrea L. (National Institutes of Health (Bethesda, Estats Units d'Amèrica))
Hanauer, Marc (INSERM)
Brudno, Michael (University of Toronto)
Bello, Susan (Jackson Laboratory)
Sincan, Murat (Sanford Health)
Rageth, Kayli (Sanford Health)
Wheeler, Matthew T. (Stanford University School of Medicine)
Oegema, Renske (University Medical Center)
Lourghi, Halima (INSERM)
Della Rocca, Maria G. (National Institutes of Health (Bethesda, Estats Units d'Amèrica))
Thompson, R. (Newcastle University)
Castellanos, Francisco (Jackson Laboratory for Genomic Medicine)
Priest, James (Stanford University School of Medicine)
Cunningham-Rundles, Charlotte (Mount Sinai School of Medicine)
Hegde, Ayushi (Jackson Laboratory for Genomic Medicine)
Lovering, Ruth Caroline (University College London)
Hajek, Catherine (Sanford Imagenetics. Sanford Health)
Olry, Annie (INSERM)
Notarangelo, Luigi (National Institutes of Health (Bethesda, Estats Units d'Amèrica))
Similuk, Morgan (National Institutes of Health (Bethesda, Estats Units d'Amèrica))
Zhang, Xingmin (Jackson Laboratory for Genomic Medicine)
Gómez-Andrés, David (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Lochmüller, Hanns (Ottawa Hospital Research Institute)
Dollfus, Hélène (Strasbourg University Hospital)
Rosenzweig, Sergio (NIH Clinical Center)
Marwaha, Shruti (Stanford University School of Medicine)
Rath, Ana (INSERM)
Sullivan, Kathleen (University of Pennsylvania Perelman School of Medicine)
Smith, Cynthia (Jackson Laboratory)
Milner, Joshua D. (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica))
Leroux, Dorothée (Strasbourg University Hospital)
Boerkoel, Cornelius (Sanford Health)
Klion, Amy (National Institutes of Health (Bethesda, Estats Units d'Amèrica))
Carter, Melody C. (National Institutes of Health (Bethesda, Estats Units d'Amèrica))
Groza, Tudor (Darlinghurst)
Smedley, Damian (Queen Mary University of London)
Haendel, Melissa Anne (Oregon State University)
Mungall, Christopher (Lawrence Berkeley National Laboratory)
Robinson, Peter N. (University of Connecticut)
Universitat Autònoma de Barcelona

Fecha:	2019
Resumen:	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.
Nota:	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.).
Derechos:	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.
Lengua:	Anglès
Documento:	Article ; recerca ; Versió publicada
Materia:	Biological Ontologies ; Computational Biology ; Congenital Abnormalities ; Databases, Genetic ; Genetic Predisposition to Disease ; Genetic Variation ; Humans ; Internet ; Knowledge Bases ; Phenotype ; Rare Diseases ; Whole Genome Sequencing
Publicado en:	Nucleic acids research, Vol. 47 Núm. D1 (august 2019) , p. D1018-D1027, ISSN 1362-4962

DOI: 10.1093/nar/gky1105
PMID: 30476213

10 p, 1.2 MB

El registro aparece en las colecciones:
Artículos > Artículos de investigación
Artículos > Artículos publicados