AIVariant: a deep learning-based somatic variant detector for highly contaminated tumor samples.

Abstract excerpt

The detection of somatic DNA variants in tumor samples with low tumor purity or sequencing depth remains a daunting challenge despite numerous attempts to address this problem. In this study, we constructed a substantially extended set of actual positive variants originating from a wide range of tumor purities and sequencing depths, as well as actual negative variants derived from sequencer-specific sequencing...

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• Algorithms
• Computational Biology
• Deep Learning
• Gene Frequency
• Mutation