Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansion

Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansion

Abstract Background The gene C9orf72 harbors a non-coding hexanucleotide repeat expansion known to cause amyotrophic lateral sclerosis and frontotemporal dementia. While previous studies have estimated the length of this repeat expansion in multiple tissues, technological limitations have impeded re...

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Main Authors: Evan Udine, NiCole A. Finch, Mariely DeJesus-Hernandez, Jazmyne L. Jackson, Matthew C. Baker, Siva Arumugam Saravanaperumal, Eric Wieben, Mark T.W. Ebbert, Jaimin Shah, Leonard Petrucelli, Rosa Rademakers, Björn Oskarsson, Marka van Blitterswijk
Format: Article
Language:English
Published: BMC 2024-12-01
Series:Molecular Neurodegeneration
Subjects:
C9orf72
Long-read sequencing
Methylation
Repeat expansions
Amyotrophic lateral sclerosis
Frontotemporal dementia
Online Access:https://doi.org/10.1186/s13024-024-00790-0
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https://doi.org/10.1186/s13024-024-00790-0

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