Orphadata selected as ELIXIR Core Data Resource

CDR-logoOrphadata, a platform to aggregate rare disease datasets from Orphanet database, has joined the list of ELIXIR Core Data Resources, a set of data resources of fundamental importance  for life science research.

The ELIXIR Core Data Resources serve as a mark of the highest quality in infrastructure service provision and play a critical role in the long-term preservation of life science data. Orphadata has been added to the list, following a detailed review by independent panel of reviewers and their decision to adopt open an access licence.

Orphadata gives access to aggregated scientific data related to rare diseases from the Orphanet knowledge base, as well as to ORDO - the Orphanet rare disease ontology and to HOOM - the HPO-ORDO ontological module. It is an extension of Orphanet, serving as a dedicated download platform for the datasets collected by Orphanet. It launched in 2011 to meet the demands from researchers and clinicians who want to reuse and combine the rare disease data provided by Orphanet.

orphadata logoPreviously, Orphadata free datasets were released under a more restricted licence that did not allow combining and enriching the downloaded data. By adopting an open access licence, Orphadata follows the licence recommendations for the ELIXIR Core Data Resources.

ELIXIR is committed to Open Access as a core principle for publicly funded research. ELIXIR Core Data Resources should reflect this commitment and have terms of use or a licence that enables the reuse and remixing of data. The Creative Commons licenses CC0, CC-BY or CC-BY-SA are all conformant with the Open Definition, as are equivalent open terms of use.

Ana Rath, Orphanet Director said: “It is really an honour to see Orphadata among the ELIXIR Core Data Resources, it is also a recognition of the work of the Orphanet consortium. Since its inception in 1997, Orphanet has become the reference source of manually curated and expert reviewed rare disease information. Free-access Orphadata is a crucial part of the Orphanet platform that directly contributes to the Open Science principles endorsed by ELIXIR, giving access to large volumes of computable and reusable life science data.”

Niklas Blomberg, ELIXIR Director said: “ELIXIR Core Data Resources are the key component of the open data infrastructure that ELIXIR is building. They are is the backbone of ELIXIR’s strategy for sustainable data resources and it also drives our Open Access policy. I am very pleased to see Orphanet opening up their data: as a world leading resource for rare disease research, it is a valuable addition to our list of the ELIXIR Core Data Resources.”

Orphanet/Orphadata - part of ELIXIR France - is managed by a consortium of academic institutions from 37 countries, led by Inserm (National Institute of Health and Medical Research, France).

About ELIXIR Core Data Resources

The ELIXIR Core Data Resources are a set of European life-science data resources (deposition archives and knowledge bases) that are of fundamental importance to biological and biomedical research and long-term preservation of biological data. The initial list of the ELIXIR Core Data Resources was announced in July 2017, following a year-long evaluation and selection process.

Details on the selection criteria and the selection process for ELIXIR Core Data Resources are described in the F1000R ELIXIR channel article 'Identifying ELIXIR Core Data Resources'.

Thu 31 January 2019