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

Abstract 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...

Ausführliche Beschreibung

Bibliografische Detailangaben

Hauptverfasser:	Arne De Roeck, Wouter De Coster, Liene Bossaerts, Rita Cacace, Tim De Pooter, Jasper Van Dongen, Svenn D’Hert, Peter De Rijk, Mojca Strazisar, Christine Van Broeckhoven, Kristel Sleegers
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	BMC 2019-11-01
Schriftenreihe:	Genome Biology
Schlagworte:	Long-read whole genome sequencing Dynamic time warping (DTW) Variable number tandem repeat (VNTR) ATP-binding cassette Sub-family A Member 7 (ABCA7)
Online-Zugang:	http://link.springer.com/article/10.1186/s13059-019-1856-3
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