Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases.

Sung Eun HongJana KneisslAnna ChoMan Jin KimSoojin ParkJeongeun LeeSijae WooSora KimJun-Soon KimSoo Yeon KimSungwon JungJinkuk KimJe-Young ShinJong-Hee ChaeMurim Choi

Published in: Journal of medical genetics (2022)

The RNA-Seq-based diagnosis of NMDs achieves an increased diagnostic rate and provided pathogenic status information, which is not easily accessible through exome analysis.

Keyphrases

rna seq
single cell
high throughput
small molecule
health information
healthcare
copy number
binding protein
dna methylation
social media
data analysis