GeneticsbioRxivPreprint
Resolution of the D4Z4 repeat responsible for facioscapulohumeral muscular dystrophy with HiFi sequencing
Xiao Chen, Richard J.L.F. Lemmers, Zev N. Kronenberg…·Michael A. Eberle
The paper introduces Kivvi, a tool to genotype D4Z4 repeats using HiFi sequencing, enabling accurate detection of FSHD-related alleles and revealing genetic diversity across populations.
DOI 10.64898/2026.04.10.717730