NanoSatellite: accurate characterization of expanded tandem repeat length and sequence through whole...
NanoSatellite: accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Technological limitations have hindered the large-scale genetic investigation of tandem repeats in disease. We show that long-read sequencing with a single Oxford Nanopore Technologies PromethION flow cell per individual achieves 30× human genome coverage and enables accurate assessment of tandem repeats including the 10,000-bp Alzheimer’s disease-...
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NanoSatellite: accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION
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TN_cdi_doaj_primary_oai_doaj_org_article_1d02fd4ea8c841ecbdd6acbde58630b6
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1d02fd4ea8c841ecbdd6acbde58630b6
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ISSN
1474-760X,1474-7596
E-ISSN
1474-760X
DOI
10.1186/s13059-019-1856-3
