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

Conclusion
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.

Source: Journal of Medical Genetics - October 21, 2022 Category: Genetics & Stem Cells Authors: Hong, S. E., Kneissl, J., Cho, A., Kim, M. J., Park, S., Lee, J., Woo, S., Kim, S., Kim, J.-S., Kim, S. Y., Jung, S., Kim, J., Shin, J.-Y., Chae, J.-H., Choi, M. Tags: Open access Diagnostics Source Type: research