Figure 1.

The cfDNA transcription start site (TSS) obtained through non-invasive testing can be subjected to Whole Genome Sequencing (WGS) to achieve Early Cancer Screening and the EGFR mutation status prediction for lung cancer. This study involved 196 participants, including 96 lung cancer patients and 100 healthy controls, for model building. Models were based on random forest (RF) model with 10-fold 3 times cross-validation (CV) to avoid overfitting. In addition, 142 participants were included in an external independent test cohort for further model validation. To build the Early Cancer Screening Model, the 196 samples were randomly assigned to the training cohort (n = 138) and the Validation Dataset (n = 58). The external independent test cohort was used to test the generalization ability of the model. Additionally, the feasibility of using cfDNA TSS coverage for predicting EGFR mutations was explored using a subset of patients with clinical information on EGFR. To build the EGFR mutation status prediction model, the 65 samples were randomly assigned to the training cohort (n = 47) and the Validation Dataset (n = 18).