Genetic & Genomic MedicinemedRxivPreprint
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…·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.
2 citations