High throughput repeat expansion sequencing on PromethION: An ABCA7 VNTR case study
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Expanded ABCA7 VNTR alleles are a strong risk factor for Alzheimer’s disease. Only Southern blotting can be used to estimate the length of this tandem repeat, which precludes in-depth characterization and application in the clinic. Here, we aimed to find an alternative through long-read whole genome sequencing on the recently commercialized PromethION platform (Oxford Nanopore Technologies).