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Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease
View ORCID ProfileMark T. W. Ebbert, Stefan Farrugia, Jonathon Sens, Karen Jansen-West, View ORCID ProfileTania F. Gendron, View ORCID ProfileMercedes Prudencio, lan J. McLaughlin, Brett Bowman, Matthew Seetin, Mariely DeJesus-Hernandez, Jazmyne Jackson, Patricia H Brown, Dennis W. Dickson, View ORCID ProfileMarka van Blitterswijk, View ORCID ProfileRosa Rademakers, View ORCID ProfileLeonard Petrucelli, John D. Fryer
doi: https://doi.org/10.1101/176651
Mark T. W. Ebbert
1Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224;
2Mayo Graduate School, Mayo Clinic, Rochester, MN 55905, USA;
Stefan Farrugia
1Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224;
Jonathon Sens
1Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224;
2Mayo Graduate School, Mayo Clinic, Rochester, MN 55905, USA;
Karen Jansen-West
1Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224;
Tania F. Gendron
1Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224;
Mercedes Prudencio
1Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224;
lan J. McLaughlin
3Pacific Biosciences, Menlo Park, CA, 94025, USA
Brett Bowman
3Pacific Biosciences, Menlo Park, CA, 94025, USA
Matthew Seetin
3Pacific Biosciences, Menlo Park, CA, 94025, USA
Mariely DeJesus-Hernandez
1Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224;
Jazmyne Jackson
1Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224;
Patricia H Brown
1Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224;
Dennis W. Dickson
1Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224;
Marka van Blitterswijk
1Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224;
Rosa Rademakers
1Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224;
Leonard Petrucelli
1Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224;
2Mayo Graduate School, Mayo Clinic, Rochester, MN 55905, USA;
John D. Fryer
1Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224;
2Mayo Graduate School, Mayo Clinic, Rochester, MN 55905, USA;
Posted July 02, 2018.
Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease
Mark T. W. Ebbert, Stefan Farrugia, Jonathon Sens, Karen Jansen-West, Tania F. Gendron, Mercedes Prudencio, lan J. McLaughlin, Brett Bowman, Matthew Seetin, Mariely DeJesus-Hernandez, Jazmyne Jackson, Patricia H Brown, Dennis W. Dickson, Marka van Blitterswijk, Rosa Rademakers, Leonard Petrucelli, John D. Fryer
bioRxiv 176651; doi: https://doi.org/10.1101/176651
Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease
Mark T. W. Ebbert, Stefan Farrugia, Jonathon Sens, Karen Jansen-West, Tania F. Gendron, Mercedes Prudencio, lan J. McLaughlin, Brett Bowman, Matthew Seetin, Mariely DeJesus-Hernandez, Jazmyne Jackson, Patricia H Brown, Dennis W. Dickson, Marka van Blitterswijk, Rosa Rademakers, Leonard Petrucelli, John D. Fryer
bioRxiv 176651; doi: https://doi.org/10.1101/176651
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