Stratified evaluation of blood RNA sequencing in a rare disease cohort
Tarik Duzenli, Saliha Durmuş, Hilal Esmanur Kaya, Fatih Erdoğan Sevilgen, Gülsüm Kayhan, Tunahan Cakir, Mehmet Ali Ergün
This study evaluates RNA-seq's diagnostic utility in three patient groups with non-diagnostic exome sequencing, finding higher yields in groups with candidate variants.
medRxiv · May 29, 2026 · PreprintGenetic & Genomic Medicine