Benchmarking RNA-seq Tools for Real-World Diagnostic Applications
Sarah Silverstein, Kaushik Ram Ganapathy, Sandra C. Donkervoort, Véronique Bolduc, Y. Hu, Justin K. Moy, Prech Uapinyoying, Svetlana Gorokhova, Vijay Ganesh, Ben Weisburd, Rotem Orbach, Aileen Reghan Foley, Pejman Mohammadi, David R. Adams, Carsten G. Bönnemann
This study benchmarks RNA-seq tools for diagnostic applications, finding they identify 28 diagnoses from 68 samples but only 9 out of 74 undiagnosed cases.
medRxiv · Jan 28, 2026 · PreprintGenetic & Genomic Medicine