GeneticsMolecular NeurodegenerationPeer-reviewed
Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease
Mark Ebbert, Stefan L. Farrugia, Jonathon P. Sens…·John Denis Fryer
This study demonstrates that long-read sequencing can characterize the C9orf72 G4C2 repeat expansion in disease carriers, showing potential for clinical and genetic discovery applications.
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