A Comparative Analysis of Data Platforms for Rare Diseases

摘要

The increasing interest in finding drugs and treatments for rare diseases led to the creation of research studies and clinical trials which data and results have been stored in multiple, heterogeneous databases. The lack of data harmonisation, combined with the need to improve current medical knowledge, has encouraged the research community to create computational solutions to aggregate this information. Although such platforms were created in the same area, orphan diseases, they were normally developed for different purposes, increasing the task complexity for end-users when needing to search for gene-to-phenotype information (e.g. genes, mutations, symptoms, etc.). Aiming to help answer these questions, we conducted a comprehensive analysis of the existent platforms designed to retrieve and visualise information about genetic rare diseases. In this analysis, we found several platforms from which we identified 7 candidates based on a set of inclusion and exclusion criteria. Through this analysis we were able to assess each system's characteristics and identify the most appropriate for distinct use cases and audiences, namely medical researchers, bioinformaticians and patients and relatives.