CancerVar: An artificial intelligence-empowered platform for clinical interpretation of somatic mutations in cancer.

ABSTRACT: Several knowledgebases are manually curated to support clinical interpretations of thousands of hotspot somatic mutations in cancer. However, discrepancies or even conflicting interpretations are observed among these databases. Furthermore, many previously undocumented mutations may have clinical or functional impacts on cancer but are not systematically interpreted by existing knowledgebases. To address these challenges, we developed CancerVar to facilitate automated and standardized interpretations for 13 million somatic mutations based on the AMP/ASCO/CAP 2017 guidelines. We further introduced a deep learning framework to predict oncogenicity for these variants using both functional and clinical features. CancerVar achieved satisfactory performance when compared to several independent k

SUBMITTER: Li Q 

PROVIDER: S-EPMC9075800 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature