NanoSatellite: accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION

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 re...

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Bibliografiske detaljer
Udgivet i:Genome Biol
Main Authors: De Roeck, Arne, De Coster, Wouter, Bossaerts, Liene, Cacace, Rita, De Pooter, Tim, Van Dongen, Jasper, D’Hert, Svenn, De Rijk, Peter, Strazisar, Mojca, Van Broeckhoven, Christine, Sleegers, Kristel
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2019
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Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6857246/
https://ncbi.nlm.nih.gov/pubmed/31727106
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13059-019-1856-3
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