We formatted these resources to generate a set of relevance judgements for the evaluation of Clinical Decision Support Systems in the field of Rare Diseases. We merged two originally published BMJ and IJMI data sets in a convenient and interoperable format following TREC standards (QREL). Such a benchmark is appropriate to assess the effectiveness of the WeIRD diagnosis support system.
DisprotGUI is a service platform developed to help DisProt curators dealing with literature ( MEDLINE / PMC ). The documents were fully annotated using the Disprot ontology and indexed into SIBiLS. On the top of that, the search engine is set up to rank the articles according to their potential interest for the curation.
Precision oncology relies on the use of treatments targeting specific genetic variants. However, identifying clinically actionable variants as well as relevant information likely to be used to treat a patient with a given cancer is a labor-intensive task, which includes searching the literature for a large set of variants. The lack of universally adopted standard nomenclature for variants requires the development of variant-specific literature search engines.