Discovering cell types underlying rare disease phenotypes using scRNA-seq data from non-diseased tissues
Jorge Novoa, Florencio Pazos, Mónica Chagoyen
The paper uses scRNA-seq data from non-diseased tissues to identify cell types associated with rare diseases using a computational framework called Cell4Rare, achieving an AUC of 0.71.
Briefings in Bioinformatics · Jul 1, 2026Peer-reviewedSystems Biology