repeat

Unveiling the Elusive Nature of SCA4: Adaptive Sampling Reveals Pathogenic Repeat Expansion

Claire Anderson from the University College London in the UK presented at London Calling a short session on “Adaptive sampling reveals pathogenic repeat expansion underlying spinocerebellar ataxia.” Spinocerebellar Ataxia Type 4 (SCA4) is an autosomal dominant hereditary ataxia characterized by sensory neuropathy, explained Anderson. The locus has been linked to chromosome sixteen. Anderson and their […]
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Repeat Expansion Analysis

Pay Giesselmann from the Max Planck Institute for Molecular Genetics in Germany presented at London Calling 2019 on “Nanopype: processing and quantification of short tandem repeats.” The team created a data processing pipeline for targeted repeat expansion analysis and worked on STRique to quantify repeat expansion. Nanopype can be installed from the source, used as […]
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A Nanopore-based Approach to Detect and Analyze Repeat Anomalies

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 […]
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