Genetic & Genomic MedicinemedRxivPreprint
AUTOMATED VERSUS MANUAL REANALYSIS IN RARE DISEASE GENOMICS
Daniel Kaschta, Vincent Arriens, Simon Mueller…·Malte Spielmann
The paper compares automated and manual reanalysis of rare disease genome sequencing data, finding automated methods achieve similar results with less effort.
DOI 10.64898/2026.05.16.26352295