13. Implementation of new ClinGen/CGC/VICC recommendations for classification of oncogenicity of somatic variants using AI

The ClinGen, CGC and VICC recently published new recommendations for the classification of pathogenicity of somatic variants in cancer, in order to create a set of standards when classifying the oncogenicity of a somatic variant. While the detailed evaluation criteria will increase classification consistency between different labs, the process is time-consuming and holds some computational challenges. Here, we present a novel AI-based oncogenicity classification engine for somatic variants based on these new recommendations and integrated it into Franklin (franklin.genoox.com), an open-access platform for variant interpretation.

Source: Cancer Genetics and Cytogenetics - November 1, 2022 Category: Genetics & Stem Cells Authors: Yaron Einhorn, Moshe Einhorn, Yaron Assa, Odem Shani Source Type: research