REPORT: Portfolio of ELIXIR data resources and tools for the rare diseases communities

There is a wide range of data resources and analysis methods used in the rare-disease area. Deliverable 8.1 report the efforts undertaken from the ELIXIR-EXCELERATE WP8 rare disease use case to create a dynamic portfolio of ELIXIR data resources and analysis tools useful to the rare disease communities. Since the start of the project, we have reviewed the ELIXIR-EXCELERATE currentdata resources and evaluated their usability and potential impact on the rare disease community. One critical aspect of the development of the registry has been to engage the different communities in the submission and rating of the tools. For this task, we worked together with representatives of the major projects in the field of rare diseases to create a customized catalogue of ELIXIR tools and services devoted to assist them in the diagnosis of rare disease patients and the development of new therapies, which are the main goals established by the International Rare Diseases Research Consortium (http://www.irdirc.org). Through the elaboration and dissemination of a rare disease resource survey, we have started to deploy of a link between the end users and the tools developers that will help ELIXIR to understand better the problems that are actually facing the main actors in the rare diseases research and hence to better solutions. To publish and make available to the rare disease community our catalogue of resources, we have used the ELIXIR registry ( https://bio.tools/ ) in collaboration with ELIXIR- EXCELERATE WP1 and WP2. ELIXIR registry is intended to be a reference for the research community, as it will reflect the quality and the real-time status of theservices included on it. Displaying our catalogue of rare disease resources into the ELIXIR registry environment allow users from the different countries, communities and projects to discover which are the tools available for rare disease research at a given time and provide them with instructions for their correct use. Deliverable 8.1: “Portfolio of ELIXIR data resources and tools for the rare diseases communities” defines the outcome of this work.