Reanalysis of Next-Generation Sequencing Data to Detect Tandem Repeat Expansions in 1,106 Czech Probands With Neurologic Disease

This is the authors' abstract. We don't add key points for this paper.

Background and Objectives: Tandem repeats (TRs) are DNA regions of tandemly repeated nucleotide motifs. Their pathogenic expansions cause various, mainly neurologic, diseases. Methods: We analyzed 65 TR loci using ExpansionHunter in individuals who underwent short-read whole-exome sequencing (WES) or whole-genome sequencing (WGS) for the diagnosis of a rare neurologic condition. Results: were associated with Fuchs endothelial corneal dystrophy, a common eye disease in older patients. Finally, we detected 11 heterozygous TR expansions for XLR and autosomal recessive (AR) diseases in 11 probands who had no clinical symptoms of the associated TR disease. Discussion: warrant further investigation.