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Detection of Cell-Free DNA in Blood Plasma Samples of Cancer Patients
Published on: September 9, 2020
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Precision cancer classification using liquid biopsy and advanced machine learning techniques
Amr Eledkawy1, Taher Hamza1, Sara El-Metwally2,3
1Department of Computer Science, Faculty of Computers and Information, Mansoura University, P.O. Box: 35516, Mansoura, Egypt.
Scientific Reports
|March 11, 2024
Summary
This study introduces a novel liquid biopsy method for early cancer detection using plasma cell-free DNA (cfDNA) and protein biomarkers. The system achieves high accuracy in detecting cancer presence and classifying cancer types, improving patient outcomes.
Area of Science:
- Oncology
- Biotechnology
- Bioinformatics
Background:
- Cancer poses a significant global health challenge, underscoring the need for early detection methods.
- Liquid biopsy, analyzing circulating cell-free DNA (cfDNA/ctDNA) and biomarkers, offers a promising avenue for non-invasive cancer diagnosis.
- Timely cancer detection is crucial for improving patient survival rates and enabling effective treatment.
Purpose of the Study:
- To develop and validate a machine learning system for early cancer detection and classification using plasma cfDNA/ctDNA mutations and protein biomarkers.
- To enhance the efficiency and accuracy of cancer detection by employing advanced feature selection and classification techniques.
Main Methods:
- Utilized correlation coefficient and mutual information for feature selection, reducing data dimensionality by 60% using XGBoost feature importance.
- Employed Light Gradient Boosting Machine (LGBM) for classification, optimizing hyperparameters via random search.
- Ensembled tenfold cross-validated LGBM models, weighted by balanced accuracy, for final predictions.
Main Results:
- Achieved 99.45% accuracy and 99.95% AUC for cancer presence detection.
- Attained 93.94% accuracy and 97.81% AUC for cancer-type classification.
- Demonstrated a significant reduction in dataset dimensionality while maintaining high predictive performance.
Conclusions:
- The proposed liquid biopsy system demonstrates high efficacy in early cancer detection and classification.
- This methodology holds potential for improving patient outcomes through timely and accurate cancer diagnosis.
- The integration of cfDNA/ctDNA analysis and protein biomarkers offers a powerful tool in the fight against cancer.

