Article

Targeted Genotyping of Variable Number Tandem Repeats with adVNTR

2017-11-18

Abstract excerpt

Whole Genome Sequencing is increasingly used to identify Mendelian variants in clinical pipelines. These pipelines focus on single nucleotide variants (SNVs) and also structural variants, while ignoring more complex repeat sequence variants. We consider the problem of genotyping Variable Number Tandem Repeats (VNTRs), composed of inexact tandem duplications of short (6-100bp) repeating units. VNTRs span 3% of the...

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Literature Corpus work: 24ecf0ca-0728-5a23-9d9a-55838c78f4fd
DOI: 10.1101/221754

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