Attentive deep learning-based tumor-only somatic mutation classifier achieves high accuracy agnostic of tissue type and capture kit.
Robert T. McLaughlin, Maansi Asthana, Marc A. Di Meo, Michele Ceccarelli, Howard J. Jacob, David L. Masica
The paper develops a deep learning classifier to distinguish somatic and germline mutations in tumor-only samples, achieving high accuracy across tissue types and reducing racial bias in TMB estimates.
bioRxiv · Dec 7, 2021 · PreprintGenomics