Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts
Matthew J. Welland, K. D. Ahlquist, Paul De Fazio, Christina Anne Austin-Tse, Lynn S. Pais, Laura Wedd, Samantha J. Bryen, Rocío Rius, Michael Franklin, Caitlin Morrison, Giles Hall, Laura Doyle Gauthier, Alex Bloemendal, David I. Francis, Andrew John Mallett, , Zornitza Stark
The paper develops an automated tool for reanalyzing genomic data in rare disease cohorts, showing improved diagnostic yields through iterative reanalysis.
medRxiv · May 19, 2025 · PreprintGenetic & Genomic Medicine