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

Overview of attention for article published in Molecular Neurodegeneration, August 2018

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RT @PacBio: How to detect repeat expansions? Marka discusses various techniques, including no-amp @PacBio sequencing. Check out the paper…

RT @PacBio: How to detect repeat expansions? Marka discusses various techniques, including no-amp @PacBio sequencing. Check out the paper…

How to detect repeat expansions? Marka discusses various techniques, including no-amp @PacBio sequencing. Check out the paper she references here: https://t.co/uowNcYWtjI @bioinfo_mark #LRcrispr https://t.co/EE7fBRcZGU

@nelsondl @MikeEberle @jwbelmon @AJHGNews @AliciaOshlack @hcmefford You may also be interested in our paper comparing @PacBio and @nanopore sequencing tough repeats (#C9orf72 and #SCA36) in plasmids. Both do quite well. We then sequenced a C9orf72 expansio

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