Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing.

Yosuke HiramukiYuriko KureYoshihiko SaitoMegumu OgawaKeiko IshikawaMadoka Mori-YoshimuraYasushi OyaYuji TakahashiDae-Seong KimNoriko AraiChiaki MoriTsuyoshi MatsumuraTadanori HamanoKenichiro NakamuraKoji IkezoeShinichiro HayashiYuichi GotoSatoru NoguchiIchizo Nishino

Published in: Journal of translational medicine (2022)

Our method contributes to the development for the diagnosis of FSHD using Nanopore long-read sequencing. This finding might give insight into the mechanisms by which repeat contraction causes disease pathogenesis.

Keyphrases

muscular dystrophy
single molecule
single cell
duchenne muscular dystrophy
dna methylation
genome wide
copy number
smooth muscle
gene expression