Open access
Sep 2026
Genomic Research as a Critical Pathway to Diagnosis for Individuals with Rare Disease
RGP demonstrates that a research-based, patient-driven remote sequencing study can effectively bridge a diagnostic gap for rare disease families underserved in current clinical care and underscores the clinical utility of GS with frequent re-analysis.
A. O'Donnell-Luria, Stephanie P. DiTroia, Melanie C. O'Leary et al.
· medRxiv · 0 citations