Author

B. Arveiler

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Open access Aug 2026

Towards routine genetic testing of repeat expansions in neurogenetic diseases using multiplex CRISPR-Cas9-targeted long read sequencing

This work evaluated CRISPR-Cas9-mediated target enrichment coupled to Oxford Nanopore Technologies (ONT) long read sequencing, to accelerate and improve the time-consuming molecular diagnosis of repeat expansion disorders.

P. Fergelot, C. Boury, B. Penaud et al. · Scientific Reports · 0 citations