DeepSSV: detecting somatic small variants in paired tumor and normal sequencing data with convolutional neural network.

Abstract excerpt

It is of considerable interest to detect somatic mutations in paired tumor and normal sequencing data. A number of callers that are based on statistical or machine learning approaches have been developed to detect somatic small variants. However, they take into consideration only limited information about the reference and potential variant allele in both tumor and normal samples at a candidate somatic site....

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