A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

摘要

The Treatabolome is a project aiming at collecting and making freely available information about gene and variant-specific treatments for rare diseases. It starts by selecting a disease (or disease-group of interest) of interest and running a systematic literature review to identify the gene and variant-specific treatments that have been published. The resulting datasets will comply to the FAIR guiding principles of data stewardship to enable its easy translation to machine-readable data elements. The resulting database will be freely available online and will be made available for integration into existing diagnosis and management support tools, e.g. the GPAP platform of RD-Connect