Resolution of the D4Z4 repeat responsible for facioscapulohumeral muscular dystrophy with HiFi sequencing
Xiao Chen, Richard J.L.F. Lemmers, Zev N. Kronenberg, Joseph M. Devaney, Jessica Noya, April S. Berlyoung, Shamila Yusuff, Solomon Lynch, Keith Nykamp, Amanda S. Lindy, Egor Dolzhenko, Silvère M. van der Maarel, 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.
bioRxiv · Apr 14, 2026 · PreprintGenetics