2019
DOI: 10.1038/s41587-019-0293-x
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Analysis of short tandem repeat expansions and their methylation state with nanopore sequencing

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Cited by 133 publications
(154 citation statements)
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“…Further, both samples showed a strong bias to sequencing the shortest allele, representing 79% and 91% of the spanning reads, respectively. This is likely an artifact of the technology sequencing shorter fragments more efficiently, as has been previously observed (35)(36)(37) and the fact that longer (e.g. expanded)…”
Section: Cabage Target Enrichment Produces Reads That Span a Pathogenmentioning
confidence: 80%
“…Further, both samples showed a strong bias to sequencing the shortest allele, representing 79% and 91% of the spanning reads, respectively. This is likely an artifact of the technology sequencing shorter fragments more efficiently, as has been previously observed (35)(36)(37) and the fact that longer (e.g. expanded)…”
Section: Cabage Target Enrichment Produces Reads That Span a Pathogenmentioning
confidence: 80%
“…For example, the minisatellite length polymorphisms at the insulin gene VNTR is strongly associated with juvenile obesity and metabolic syndrome (46). Expansions of short tandem repeats (e.g., GGGGCC repeats within C9orf72 gene in amyotrophic lateral sclerosis and CGG repeats within FMR1 gene in fragile X syndrome) are genetic variants that have been implicated in several neuropsychiatric and other disorders, but their assessment remains challenging with Southern blot-based method (47). We envision the principles of STAR assay to be extended for many of these applications for high-throughput screening to replace current cumbersome gel electrophoresis procedures.…”
Section: Discussionmentioning
confidence: 99%
“…We were interested in studying FMR1 at a singlemolecule level because of the link between the epigenetic status of the FMR1 promoter and the number of CCG repeats, and since repeat number and methylation mosaicism are common phenomena in FXS. Analysis of these genetic and epigenetic features on native molecules of FMR1 has been attempted using both SMRT sequencing and nanopore sequencing but in neither case was it possible to perform accurate repeat sizing and methylation analysis on the same single molecules 48,49 . Our MT platform is well suited to this dual analysis in the same single molecules of DNA.…”
Section: Discussionmentioning
confidence: 99%