Applying targeted long-read sequencing to assess an expanded repeat in C9orf72

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Presented By: Marka van Blitterswijk

Speaker Biography: Dr. Marka van Blitterswijk is an Assistant Professor and Associate Consultant in the Department of Neuroscience at Mayo Clinic. She obtained her MS degree in Bioinformatics at Johns Hopkins University (Baltimore, MD).

Webinar: Applying targeted long-read sequencing to assess an expanded repeat in C9orf72

Webinar Abstract: A repeat expansion in the C9orf72-SMCR8 complex subunit (C9orf72) represents the most common genetic cause of two fatal neurodegenerative diseases: frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). To determine the length of this repeat expansion, we used No-Amp sequencing (Pacific Biosciences [PacBio]), a targeted amplification-free long-read sequencing technology.

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