Journal article

Rapid diagnosis of SCA36 in a three-generation family using short-read whole genome sequencing data

Haloom Rafehi, David Szmulewicz, Kate Pope, Mathew Wallis, John Christodoulou, Susan White, Martin Delatycki, Paul Lockhart, Melanie Bahlo

Cold Spring Harbor Laboratory | Published : 2019


Background Spinocerebellar ataxias (SCA) are often caused by expansions of short tandem repeats (STRs). Recent methodological advances have made repeat expansion (RE) detection with whole genome sequencing (WGS) feasible. Objectives To determine the genetic basis of ataxia in a multigenerational Australian pedigree, with autosomal dominant inheritance. Methods and Results WGS was performed on three affected relatives. The sequence data was screened for known pathogenic REs using two repeat expansion detection tools: exSTRa and ExpansionHunter. This screen provided a clear and rapid diagnosis (View full abstract


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