Clinical Application of Optical Genome Mapping for Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy.

Yeeun Shim Jieun Seo Seung Tae Lee Jong Rak Choi Young-Chul Choi Saeam Shin Hyung Jun Park

Published in: Annals of laboratory medicine (2024)

OGM enables accurate and reliable detection of pathogenic contraction of the D4Z4-repeat array and is a valuable tool for the genetic diagnosis of FSHD1.

Keyphrases

muscular dystrophy
high resolution
duchenne muscular dystrophy
genome wide
high speed
dna methylation
smooth muscle
loop mediated isothermal amplification
mass spectrometry
real time pcr
single molecule
sensitive detection