ELIXIR releases its annual report
ELIXIR aims to orchestrate the collection, quality control and archiving of large amounts of biological data produced by life science experiments, thus making it easily available to researchers internationally. The ELIXIR Platforms comprise Data, Tools, Interoperability, Compute and Training, forming the basic operational units within ELIXIR. They have released their annual report which details the new phase that expands resources and brings together expertise, at the same time concentrating on service delivery.
The report details that the the five technical platforms - Tools, Data, Compute, Interoperability and Training to be used in Plant sciences, Marine metagenomics, Rare diseases and Human data are now fully operational. According to the report the Horizon 2020 ELIXIR-EXCELERATE grant launched in 2015, will accelerate the implementation of the ELIXIR scientific programme and integrate ELIXIR bioinformatics resources into a coherent portfolio of infrastructure services. They also built strong collaborations. In the beginning of 2015 ELIXIR had 12 Members and six Observers and welcomed France, Spain and Belgium, which completed the ratification process and became fully integrated into ELIXIR activities. Other countries are in the preparatory phase and have joined as observers and expanding outside Europe.
As particular interest to the Rare Disease field, the report describes the main goals of the ELIXIR Rare Disease Use Case which are to:
• "Build an ELIXIR portfolio of data resources and analysis tools critical for the rare disease research community;
• Implement a technical framework for the comparison and standardisation of services useful for this community;
• Arrange training courses, workshops and hackathons to train rare disease researchers to use ELIXIR services and capture the specific service requirements of this community."
Prof. Kate Bushby was appointed in ELIXIR’s Scientific Advisory Board this year to offer advice to the ELIXIR board on rare diseases.
According to the report, in 2015 "ELIXIR launched a joint initiative with RD-CONNECT, Biobanking and Biomolecular Resources Research Infrastructure – the Netherlands (BBMRI-NL) and BBMRI-ERIC to create a federated infrastructure for access to rare-disease repositories throughout Europe.".
Additionally, in the framework of the ELIXIREXCELERATE Rare Disease Use Case, "ELIXIR will test different technologies and find those best suited to link different resources and tools to better serve the rare disease community."
France became a member of ELIXIR in October 2015. The French node of ELIXIR is the French Institute of Bioinformatics and Orphanet officially became its 30th platform in 2015. Orphanet will participate in the ELIXIR implementation study for rare diseases in the context of EXCELERATE project. Its aims, among others, is to provide standards for the exchange of rare disease data and work with the communities of rare diseases towards organising training and workshops. A key objective of ELIXIR is to work towards the sustainability of resources and tools such as those offered by Orphanet, strategic measure for the future Orphanet.
Read the Report