Rapid diagnosis of SCA36 in a three-generation family using short-read whole genome sequencing data
作者： Haloom Rafehi , David J. Szmulewicz , Kate Pope , Mathew Wallis , John Christodoulou
DOI: 10.1101/851675
关键词:
摘要: 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 ataxia in a multigenerational Australian pedigree, autosomal dominant inheritance. Methods and Results: WGS was performed on three affected relatives. The sequence data screened for known pathogenic REs using two tools: exSTRa ExpansionHunter. This screen provided clear rapid diagnosis (
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