Article

Long-read sequencing across the <i>C9orf72</i> ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease

2018-02-10

Abstract excerpt

<h4>Background: </h4> Many neurodegenerative diseases are caused by nucleotide repeat expansions, but most expansions, like the C9orf72 ‘GGGGCC’ (G 4 C 2 ) repeat that causes approximately 5-7% of all amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) cases, are too long to sequence using short-read sequencing technologies. It is unclear whether long-read sequencing technologies can traverse...

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Literature Corpus work: ab3d4087-7dc0-5cc1-9083-181aa38d1137
DOI: 10.1101/176651

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