P391: Long-read RNA sequencing enables integrated phasing and functional clarification of SLC1A4 variants in autosomal recessive SPATCCM
Abstract
The results were considered non-diagnostic two reasons: first, the variants could not be phased due to the short read lengths generated on the ES platform and second, the variants were classified as VUS, with the functional impact of the silent variant highly uncertain. We utilized long read RNA sequencing on the Oxford Nanopore platform to generate supportive data that resolved both questions.
Fields of Study & Subjects
Genomics and Rare Diseases
Hereditary Neurological Disorders
Genomics and Phylogenetic Studies
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103885–103885
- Publication date
- 1 January 2026
- Language
- EN