Suchergebnisse

National Institutes of Health (NIH) Monarch Initiative [NIH OD #5R24OD011883]; E-RARE 2015 program, Hipbi-RD (harmonizing phenomics information for a better interoperability in the RD field); Director, Office of Science, Office of Basic Energy Sciences, of the U.S. Department of Energy under [DE-AC02-05CH11231]; Bundesministerium f ¨ur Bildung und Forschung (BMBF) [0313911]; Raine Clinician Research Fellowship (to G.B.); Stanley Institute for Cognitive Genomics at Cold Spring Harbor Laboratory (CSHL to G.J.L.); European Union Seventh Framework Programme [FP7/2007-2013] supported RD-Connect [305444], EURenOmics [2012-305608] and NeurOmics [2012-305121]; Fight for Sight and Retinitis Pigmentosa Fighting Blindness (to N.P.); National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital National Health Service Foundation Trust and UCL Institute of Ophthalmology (UK) (to V.C.); University of Kiel, by a grant from the German Research Foundation [HE5415/3-1 to I.H.] within the EuroEPINOMICS framework of the European Science Foundation and grants of the German Research Foundation [DFG, HE5415/5-1, HE5415/6-1], German Ministry for Education and Research [01DH12033, MAR 10/012] and by the German chapter of the International League against Epilepsy (DGfE); International League Against Epilepsy (ILAE to I.H.) within the Epilepsiome initiative of the ILAE Genetics Commission (www.channelopathist. net); National Library of Medicine [R44 LM011585-02 to M.S.]. BBAdV is funded by the Dutch Organisation for Health Research and Development (ZON-MW grants 912-12-109). Funding for open access charge: NIH [R24- OD011883]

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.