Genetic & Genomic MedicinemedRxivPreprint
Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts
Matthew J. Welland, K. D. Ahlquist, Paul De Fazio…·Zornitza Stark
The paper develops an automated tool for reanalyzing genomic data in rare disease cohorts, showing improved diagnostic yields through iterative reanalysis.
11 citations