BioinformaticsbioRxivPreprint
An annotation-overlap-flagged rare-disease gene-prioritisation benchmark and PMC index recipe
Jose M. Angulo, Héctor Espinós-Morató, Víctor Manuel Yeste Moreno
The paper introduces a benchmark for rare-disease gene prioritization using 1,047 cases and a recipe for building a PMC article index, without comparing tools.
DOI 10.64898/2026.08.30.748028