Article

Parallel in-depth analysis of repeat expansions: an updated Clin-CATS workflow for nanopore R10 flow cells

2024-11-08

Abstract excerpt

<h4>ABSTRACT</h4> Hereditary ataxias, caused by expansions of short tandem repeats, are difficult to diagnose using traditional PCR and Southern blot methods, which struggle to detect complex repeat expansions and cannot assess repeat interruptions or methylation. We present an updated Clinical Nanopore Cas9-Targeted Sequencing (Clin-CATS) workflow for analyzing repeat expansions, now compatible with the Oxford N...

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Literature Corpus work: 87a03c63-970e-5b6e-b88b-e2e08b0b574d
DOI: 10.1101/2024.11.05.622099

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