Deep neural network-based biostatistical analysis for disease marker screening

基于深度神经网络的生物统计分析用于疾病标志物筛查

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Abstract

Traditional statistical methods have limitations when dealing with high-dimensional, small-sample data. Deep learning methods have attracted widespread attention due to their powerful feature learning capabilities. Leveraging deep neural networks (DNNs), this paper proposes a novel biomarker screening framework and compares it with traditional statistical methods such as Least Absolute Shrinkage and Selection Operator (LASSO) and random forests. Experiments conducted on a breast cancer dataset demonstrate the superiority of DNN models for biomarker screening, particularly in key metrics such as sensitivity, accuracy, and Area Under the Curve (AUC). To enhance the interpretability of the model, this paper combines an attention mechanism with SHapley Additive exPlanations (SHAP) value analysis, enabling the model to provide clinicians with more guided biological interpretations. The experimental results demonstrate that the DNN model can improve the accuracy of biomarker screening while exhibiting considerable interpretability and practical application potential. Although there are many biomarker screening studies using deep neural networks, this study is not just a simple repetition of existing work. Instead, it designs a scalable comprehensive model for multi-omics data integration and enhanced explanatory power. This framework performs well in the validation of breast cancer single-cell sequencing data. The framework has the potential for expansion in cross-disease applications and sets a practical example for the future development of cross-disease precision medicine.

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