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, Karen R. Jansen‐West, Tania F. Gendron, Mercedes Prudencio, Ian J. McLaughlin, Brett N. Bowman, Matthew G. Seetin, Mariely DeJesus‐Hernandez, Jazmyne L. Jackson, Patricia H. Brown, Dennis W. Dickson, Marka van Blitterswijk, Rosa Rademakers, , 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.
Molecular Neurodegeneration · Aug 20, 2018Peer-reviewedGenetics