Article

Comparative analysis of CRISPR/Cas9-targeted nanopore sequencing approaches in repeat expansion disorders

2024-12-07

Abstract excerpt

<h4>ABSTRACT</h4> More than 50 repeat expansion disorders have been identified, with long-read sequencing marking a new milestone in the diagnosis of these disorders. Despite these major achievements, the comprehensive characterization of short tandem repeats in a pathological context remains challenging, primarily due to their inherent characteristics such as motif complexity, high GC content, and variable lengt...

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Literature Corpus work: 5be5d0ab-1bd7-5c9d-9611-3546570cdcbf
DOI: 10.1101/2024.12.04.626786

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