Article

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

2018-10-09

Abstract excerpt

Tandem repeats (TRs) can cause disease through their length, sequence motif interruptions, and nucleotide modifications. For many TRs, however, these features are very difficult - if not impossible - to assess, requiring low-throughput and labor-intensive assays. One example is a VNTR in ABCA7 for which we recently discovered that expanded alleles strongly increase risk of Alzheimer’s disease. Here, we investigat...

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Literature Corpus work: 794ff45f-2822-5066-8d7d-95717f4ff0c2
DOI: 10.1101/439026

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