Héctor Espinós-Morató

An annotation-overlap-flagged rare-disease gene-prioritisation benchmark and PMC index recipe

Benchmarks for rare-disease gene prioritisation are assembled from published clinical cases. Those cases often come from the same publications used to build knowledge-base (“curated”) tools, so a curated tool can be scored on its own source literature. This resource makes that circularity measurable. We release a strat...