Article
Excerno: Using Mutational Signatures in Sequencing Data to Filter False Variants Caused by Clinical Archival.
Journal of computational biology : a journal of computational molecular cell biology - 1 Apr 2023
Mitchell Audrey, Ruiz Marco, Yang Soua, Wang Chen, Davila Jaime I
Abstract excerpt
The accurate detection of point mutations from pathology slides using sequencing data is of great importance in cancer genomics and precision oncology. Formalin-fixation paraffin-embedding (FFPE) is a widely used technique to preserve pathology tissues. The FFPE process introduces artificial C > T mutations in next-generation sequencing, so we set out to develop excerno, a method to score and filter such spurious...
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