Benchmarking RNA-seq Tools for Real-World Diagnostic Applications
Inclusion of RNA-seq tools can expedite variant prioritization, characterization and interpretation in the diagnostic pipeline but remain complementary to manual analysis of loci where candidate variants were identified by DNA sequencing.
Authors
- Justin K. Moy
- S. Gorokhova
- Véronique Bolduc (ORCID: https://orcid.org/0000-0003-1690-9270)
- Kaushik Ram Ganapathy
- Pejman Mohammadi (ORCID: https://orcid.org/0000-0003-2291-9272)
- Prech Uapinyoying
- Ben Weisburd
- Sarah Silverstein (ORCID: https://orcid.org/0000-0003-3428-3734)
- Vijay S Ganesh
- Ying Hu
- Carsten Bonnemann
- A. Reghan Foley
- Sandra Donkervoort
- David Adams
- Rotem Orbach
Institutions
- Rutgers, The State University of New Jersey (US)
- Worcester Polytechnic Institute (US)
- Broad Institute (US)
- Boston University (US)
- Scripps Research Institute (US)
- National Institutes of Health (US)
- Children's National (US)
- Inserm (FR)
- University of Washington (US)
- Aix-Marseille Université (FR)
- Assistance Publique Hôpitaux de Marseille (FR)
- National Institute of Neurological Disorders and Stroke (US)
- Office of the Director (US)
- Hôpital de la Timone (FR)
- Rutgers New Jersey Medical School (US)
Publication Details
- Journal
- medRxiv
- Published
- 2026-01-28
- DOI
- https://doi.org/10.64898/2026.01.27.26344940
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Institutes of Health
- National Heart, Lung, and Blood Institute
- National Institute of Mental Health
- National Institute on Drug Abuse
- National Human Genome Research Institute
- NIH Office of the Director
- National Cancer Institute
- National Institute of Neurological Disorders and Stroke
- Common Fund