ArticleComputational and structural biotechnology journal2023
Primary tumor type prediction based on US nationwide genomic profiling data in 13,522 patients.
Article in Computational and structural biotechnology journal, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Timely and accurate primary tumor diagnosis is critical, and misdiagnoses and delays may cause undue health and economic burden. To predict primary tumor types based on genomics data from a de-identified US nationwide clinico-genomic database (CGDB), the XGBoost-based Clinico-Genomic Machine Learning Model (XC-GeM) was developed to predict 13 primary tumor types based on data from 12,060 patients in the CGDB, derived from routine clinical comprehensive genomic profiling (CGP) testing and chart-confirmed electronic health records (EHRs). The SHapley Additive exPlanations method was used to interpret model predictions. XC-GeM reached an outstanding area under the curve (AUC) of 0.965 and Matthew's correlation coefficient (MCC) of 0.742 in the holdout validation dataset. In the independent validation cohort of 955 patients, XC-GeM reached 0.954 AUC and 0.733 MCC and made correct predictions in 77% of non-small cell lung cancer (NSCLC), 86% of colorectal cancer, and 84% of breast cancer patients. Top predictors for the overall model (e.g. tumor mutational burden (TMB), gender, and
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