Article

VNTR prediction on sequence characteristics using long-read annotation and validation by short-read pileup

2020-07-17

Abstract excerpt

Tandem repeats (TRs) are contiguously repetitive sequences with a high mutation rate. Several human diseases have been associated with an expansion of TR, a mutation which constitutes a change in their number of repetitions. Nevertheless, these Variable Number Tandem Repeats (VNTRs) have not been included in many genome-wide studies. The reason is that VNTR genotyping is inaccurate using short-read sequencing whil...

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Literature Corpus work: caa21043-d47f-5206-a865-ee8924a5d33e
DOI: 10.1101/2020.07.17.185983

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