Genetic & Genomic MedicinemedRxivPreprint
A human pan-genomic analysis reconfigures the genetic and epigenetic make up of facioscapulohumeral muscular dystrophy
Valentina Salsi, Matteo Chiara, Sara Pini…·Rossella Ginevra Tupler
This study uses pan-genomic data to analyze D4Z4 repeats and CpG methylation in FSHD, finding low methylation correlates with SMCHD1 variants but not clinical phenotypes.
6 citations