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Leveraging cfDNA fragmentomic features in a stacked ensemble model for early detection of esophageal squamous cell carcinoma
Jiao, Zichen1,2; Zhang, Xiaoqiang3; Xuan, Yulong1; Shi, Xiaoming1; Zhang, Zirui1; Yu, Ao1; Li, Ningyou4; Yang, Shanshan4; He, Xiaofeng1; Zhao, Gefei1; Yang, Ruowei4; Chen, Jianqun2; Wu, Xuxiaochen4; Bao, Hua4; Wang, Fufeng4; Ren, Wei5; Liang, Hongwei6; Chen, Qihan1,2,7,8; Wang, Tao1
2024-08-20
Source PublicationCell Reports Medicine
ISSN2666-3791
Volume5Issue:8Pages:101664
Other Abstract

In this study, we develop a stacked ensemble model that utilizes cell-free DNA (cfDNA) fragmentomics for the early detection of esophageal squamous cell carcinoma (ESCC). This model incorporates four distinct fragmentomics features derived from whole-genome sequencing (WGS) and advanced machine learning algorithms for robust analysis. It is validated across both an independent validation cohort and an external cohort to ensure its generalizability and effectiveness. Notably, the model maintains its robustness in low-coverage sequencing environments, demonstrating its potentials in clinical settings with limited sequencing resources. With its remarkable sensitivity and specificity, this approach promises to significantly improve the early diagnosis and management of ESCC. This study represents a substantial step forward in the application of cfDNA fragmentomics in cancer diagnostics, emphasizing the need for further research to fully establish its clinical efficacy.

KeywordEsophageal Cancer Early Detection Cell-free Dna Whole-genome Sequencing Machine Learning
DOI10.1016/j.xcrm.2024.101664
URLView the original
Indexed BySCIE
Language英語English
WOS Research AreaCell Biology ; Research & Experimental Medicine
WOS SubjectCell Biology ; Medicine, Research & Experimental
WOS IDWOS:001315444500001
PublisherCELL PRESS50 HAMPSHIRE ST, FLOOR 5, CAMBRIDGE, MA 02139
Scopus ID2-s2.0-85201575702
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Document TypeJournal article
CollectionDEPARTMENT OF BIOMEDICAL SCIENCES
Corresponding AuthorRen, Wei; Liang, Hongwei; Chen, Qihan; Wang, Tao
Affiliation1.Department of Thoracic Surgery, Nanjing Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China
2.The State Key Laboratory of Pharmaceutical Biotechnology, School of Life Sciences, Nanjing University, Nanjing, China
3.Department of Thoracic Surgery, The Second Affiliated Hospital of Nanchang University, Nanchang, China
4.Nanjing Geneseeq Technology Inc, Nanjing, China
5.Department of Comprehensive Cancer Centre, Nanjing Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China
6.School of Life Sciences and Technology China Pharmaceutical University, Nanjing, China
7.Cancer Center, Faculty of Health Sciences, University of Macau, China
8.MOE Frontiers Science Center for Precision Oncology, University of Macau, Macau, China
Corresponding Author AffilicationCancer Centre;  University of Macau
Recommended Citation
GB/T 7714
Jiao, Zichen,Zhang, Xiaoqiang,Xuan, Yulong,et al. Leveraging cfDNA fragmentomic features in a stacked ensemble model for early detection of esophageal squamous cell carcinoma[J]. Cell Reports Medicine, 2024, 5(8), 101664.
APA Jiao, Zichen., Zhang, Xiaoqiang., Xuan, Yulong., Shi, Xiaoming., Zhang, Zirui., Yu, Ao., Li, Ningyou., Yang, Shanshan., He, Xiaofeng., Zhao, Gefei., Yang, Ruowei., Chen, Jianqun., Wu, Xuxiaochen., Bao, Hua., Wang, Fufeng., Ren, Wei., Liang, Hongwei., Chen, Qihan., & Wang, Tao (2024). Leveraging cfDNA fragmentomic features in a stacked ensemble model for early detection of esophageal squamous cell carcinoma. Cell Reports Medicine, 5(8), 101664.
MLA Jiao, Zichen,et al."Leveraging cfDNA fragmentomic features in a stacked ensemble model for early detection of esophageal squamous cell carcinoma".Cell Reports Medicine 5.8(2024):101664.
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