Genetic & Genomic MedicinemedRxivPreprint
Accurate repeat expansion genotyping from whole-genome and real-time targeted nanopore sequencing with Mahi-mahi
Sophia B Gibson, Rebecca N Palmer, Sebastian Hollizeck…·Philipp Rescheneder
Mahi-mahi accurately genotypes repeat expansions from nanopore sequencing data, matching orthogonal methods and identifying pathogenic alleles.
DOI 10.64898/2026.10.16.26365781