Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing.

Mingtao HuangQinxin ZhangJiao JiaoJianquan ShiYiyun XuCuiping ZhangRan ZhouWenwen LiuYixuan LiangHao ChenYan WangZhengfeng XuPing Hu

Published in: Journal of translational medicine (2024)

Our ONT-based FSHD detection method is a comprehensive method for identifying pathogenetic D4Z4 RU contractions, methylation level alterations, allele-specific methylation of two 4qA haplotypes, and variations in FSHD2-related genes, which will all greatly improve genetic testing for FSHD.

Keyphrases

muscular dystrophy
single molecule
duchenne muscular dystrophy
dna methylation
genome wide
gene expression
real time pcr