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

Fergelot, P., Boury, C., Penaud, B. et al. Towards routine genetic testing of repeat expansions in neurogenetic diseases using multiplex CRISPR-Cas9-targeted long read sequencing. Sci Rep (2026). doi:10.1038/s41598-026-64095-6 

 We simultaneously targeted nine loci involved in 10 repeat expansion disorders in a single capture panel, including FMR1, HTT, DMPK, CNBP/ZNF9, ATXN2, JPH3, FXN, C9ORF72 and RFC1, covering a broad range of repeat types, sizes and diagnostic needs. Results were compared with standard routine testing methods.

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