Article

Learning What a Good Structural Variant Looks Like

2020-05-23

Abstract excerpt

Structural variations (SVs) are an important class of genetic mutations, yet SV detectors still suffer from high false-positive rates. In many cases, humans can quickly determine whether a putative SV is real by merely looking at a visualization of the SV’s coverage profile. To that end, we developed Samplot-ML, a convolutional neural network (CNN) trained to genotype genomic deletions using Samplot visualizations...

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Literature Corpus work: f314a2e8-15a6-5ccd-9158-342c3e3a7e26
DOI: 10.1101/2020.05.22.111260

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