Targeted long-read sequencing as a single assay improves diagnosis of spastic-ataxia disorders
Laura Ivete Rudaks, Igor Stevanovski, Dennis Yeow, Andre L. M. Reis, Sanjog R. Chintalaphani, Pak Leng Cheong, Hasindu Gamaarachchi, Lisa C. Worgan, Kate E. Ahmad, Michael Hayes, Andrew P. Hannaford, Samuel Kim, Victor S.C. Fung, Gabor Michael Halmagyi, Andrew J. Martin, , Kishore Raj Kumar
This paper demonstrates that targeted long-read sequencing improves genetic diagnosis of spastic-ataxia disorders by identifying causative variants in 41% of undiagnosed cases using a single assay.
Annals of Clinical and Translational Neurology · Feb 25, 2025Peer-reviewedGenetic & Genomic Medicine