Article
Variable number tandem repeats mediate the expression of proximal genes.
Nature communications - 6 Apr 2021
Bakhtiari Mehrdad, Park Jonghun, Ding Yuan-Chun, Shleizer-Burko Sharona, Neuhausen Susan L, Halldórsson Bjarni V, Stefánsson Kári, Gymrek Melissa, Bafna Vineet
Abstract excerpt
Variable number tandem repeats (VNTRs) account for significant genetic variation in many organisms. In humans, VNTRs have been implicated in both Mendelian and complex disorders, but are largely ignored by genomic pipelines due to the complexity of genotyping and the computational expense. We describe adVNTR-NN, a method that uses shallow neural networks to genotype a VNTR in 18 seconds on 55X whole genome data,...
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