NanoSatellite: Accurate characterization of expanded tandem repeat length and sequence through whole genome longread sequencing on PromethION
NanoSatellite: Accurate characterization of expanded tandem repeat length and sequence through whole genome longread 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 repeats including the 10,000-bp Alzheimer’s disease-associated ABCA7 VNTR.