Article

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

2020-11-06

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Repeat expansion (RE) disorders affect ~1 in 3000 individuals and are clinically heterogeneous diseases caused by expansions of short tandem DNA repeats. Genetic testing is often locus-specific, resulting in under diagnosis of atypical clinical presentations, especially in paediatric patients without a prior positive family history. Whole genome sequencing (WGS) is emerging...

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Literature Corpus work: ca89a90a-0a77-56e3-8e92-e3e214698d5d
DOI: 10.1101/2020.11.06.371716

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