The DisGeNET knowledge platform for disease genomics: 2019 update

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  • dc.contributor.author Piñero González, Janet, 1977-
  • dc.contributor.author Ramírez Anguita, Juan Manuel
  • dc.contributor.author Saüch Pitarch, Josep
  • dc.contributor.author Ronzano, Francesco
  • dc.contributor.author Centeno, Emilio
  • dc.contributor.author Sanz, Ferran
  • dc.contributor.author Furlong, Laura I., 1971-
  • dc.date.accessioned 2020-04-21T07:38:42Z
  • dc.date.available 2020-04-21T07:38:42Z
  • dc.date.issued 2020
  • dc.description.abstract One of the most pressing challenges in genomic medicine is to understand the role played by genetic variation in health and disease. Thanks to the exploration of genomic variants at large scale, hundreds of thousands of disease-associated loci have been uncovered. However, the identification of variants of clinical relevance is a significant challenge that requires comprehensive interrogation of previous knowledge and linkage to new experimental results. To assist in this complex task, we created DisGeNET (http://www.disgenet.org/), a knowledge management platform integrating and standardizing data about disease associated genes and variants from multiple sources, including the scientific literature. DisGeNET covers the full spectrum of human diseases as well as normal and abnormal traits. The current release covers more than 24 000 diseases and traits, 17 000 genes and 117 000 genomic variants. The latest developments of DisGeNET include new sources of data, novel data attributes and prioritization metrics, a redesigned web interface and recently launched APIs. Thanks to the data standardization, the combination of expert curated information with data automatically mined from the scientific literature, and a suite of tools for accessing its publicly available data, DisGeNET is an interoperable resource supporting a variety of applications in genomic medicine and drug R&D.
  • dc.description.sponsorship SCIII-FEDER [PI13/00082, PI17/00230, CPII16/00026]; IMI-JU resources of which are composed of financial contribution from the EU-FP7 [FP7/2007–2013] and EFPIA companies in kind contribution [116030 to TransQST, 777365 to eTRANSAFE], and the EU H2020 Programme 2014–2020 [676559 to Elixir-Excelerate]; Agència de Gestió d’Ajuts Universitaris i de Recerca Generalitat de Catalunya [2017SGR00519]. The Research Programme on Biomedical Informatics (GRIB) is a member of the Spanish National Bioinformatics Institute (INB), funded by ISCIII and FEDER (PRB2-ISCIII [PT13/0001/0023, of the PE I+D+i 2013–2016]). The DCEXS is a ‘Unidad de Excelencia María de Maeztu’, funded by the MINECO [MDM-2014-0370]. Funding for open access charge: Agència de Gestió d’Ajuts Universitaris i de Recerca Generalitat de Catalunya [2017SGR00519].
  • dc.format.mimetype application/pdf
  • dc.identifier.citation Piñero J, Ramírez-Anguita JM, Saüch-Pitarch J, Ronzano F, Centeno E, Sanz F, Furlong LI. The DisGeNET knowledge platform for disease genomics: 2019 update. Nucleic Acids Res. 2020; 48(D1):D845-D855. DOI: 10.1093/nar/gkz1021
  • dc.identifier.doi http://dx.doi.org/10.1093/nar/gkz1021
  • dc.identifier.issn 0305-1048
  • dc.identifier.uri http://hdl.handle.net/10230/44285
  • dc.language.iso eng
  • dc.publisher Oxford University Press
  • dc.relation.ispartof Nucleic Acids Res. 2020; 48(D1):D845-D855
  • dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/116030
  • dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/777365
  • dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/676559
  • dc.rights © The Author(s) 2019. Published by Oxford University Press on behalf of Nucleic Acids Research. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
  • dc.rights.accessRights info:eu-repo/semantics/openAccess
  • dc.rights.uri http://creativecommons.org/licenses/by-nc/4.0/
  • dc.title The DisGeNET knowledge platform for disease genomics: 2019 update
  • dc.type info:eu-repo/semantics/article
  • dc.type.version info:eu-repo/semantics/publishedVersion

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