Accurate repeat expansion genotyping from whole-genome and real-time targeted nanopore sequencing with Mahi-mahi
Sophia B Gibson, Rebecca N Palmer, Sebastian Hollizeck, Wouter Koole, Heather M. Jeffery, Mirjan Albring, Jillian G. Buchan, R. Keira Cheetham, Martin Elferink, Joy Goffena, Elizabeth J. Hamlin, Rumo Jansen, Paul J. Lockhart, Dr. Rachel Martin, Angela L Miller, , Philipp Rescheneder
Mahi-mahi accurately genotypes repeat expansions from nanopore sequencing data, matching orthogonal methods and identifying pathogenic alleles.
medRxiv · Oct 20, 2026 · PreprintGenetic & Genomic Medicine