Article

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

2019-11-25

Abstract excerpt

<h4>Background</h4> 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. <h4>Objectives</h4> To determine the genetic basis of ataxia in a multigenerational Australian pedigree, with autosomal dominant inheritance. <h4>Methods and Results</h4> WGS was perf...

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Literature Corpus work: 97720cb4-f92e-5565-a605-206390195a8d
DOI: 10.1101/851675

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