Hagar Mor-Shaked from the Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, presented a lightning talk at London Calling 2023. The title of the session is “Pathological short tandem repeats analysis by long-read sequencing in affected individuals.” They were also an employee of the Geneyx company that did genomic analysis. Mor-Shaked spoke about tandem repeats and the challenges of identifying and studying them. Repeats can be found in promoter and coding regions. Approaches to study repeats include repeat-primed PCR and short-read sequencing. Common practice is to refer an individual to repeat sequencing. However, the workflow is to test for one repeat variant at a time. The Nanopore-based approach Mor-Shaked and colleagues created can be used to identify up to thirty different pathological short tandem repeat issues and present an analysis. This proof-of-concept work supports using long-read sequencing to reliably determine repeat expansion in affected individuals. The Nanopore-based approach allows for sequencing of repeat expansions, and the software presents easy-to-interpret visuals.
