Article

Validation of genetic variants from NGS data using Deep Convolutional Neural Networks

2022-04-13

Abstract excerpt

Accurate somatic variant calling from next-generation sequencing data is one most important tasks in personalised cancer therapy. The sophistication of the available technologies is ever-increasing, yet, manual candidate refinement is still a necessary step in state-of-the-art processing pipelines. This limits reproducibility and introduces a bottleneck with respect to scalability. We demonstrate that the validati...

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Literature Corpus work: 68ef3717-b89f-5736-9dfd-4470a307be5e
DOI: 10.1101/2022.04.12.488021

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