Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library
Jenny Lord, Alistair T. Pagnamenta, Letizia Vestito, S.P. WALKER, Carolina Jaramillo Oquendo, Anthony McGuigan, Alexander T Ho, Christopher A. Odhams, Julius O.B. Jacobsen, Sarju Mehta, Evan Reid, Mary O’Driscoll, Christopher M Watson, Laura A. Crinnion, Rachel L. Robinson, , Diana Baralle
The paper uses blood-based RNA-Seq on 5,412 individuals with rare diseases to identify new candidate diagnoses and shows its utility in prioritizing genetic variants.
medRxiv · Mar 23, 2026 · PreprintGenetic & Genomic Medicine