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Research Article | Open Access | Online First

CDAF: A Causality Driven Analysis Framework for Disease Risk Factor Identification

School of Computer Science and Technology, Beijing Institute of Technology, Beijing 100081, China
Department of Epidemiology and Biostatistics, School of Public Health, Peking University Health Science Center, Beijing 100191, China, and also with the Key Laboratory of Epidemiology of Major Diseases (Peking University), Ministry of Education, Beijing 100191, China
Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China
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Abstract

Exploring potential disease risk factors is critical for precision medicine, enabling the identification of biomarkers and supporting accurate diagnostic tools and interventions. However, traditional statistical and machine learning methods often fail to reduce disease risk effectively, as they focus on correlations while ignoring essential causal relationships. Causality, on the other hand, could identify causal relationships and predict effects from large-scale observational data, discovering underlying data generation mechanisms. Therefore, we propose a novel causality driven analysis framework (CDAF) to identify causal risk factors from observational data. CDAF employs a converging causality growth algorithm to discover essential causal relationships through Bayesian scoring criterion, modeled as a causal graph. It estimates the average treatment effect (ATE) of direct causal edges using causal inference, ranking the importance of risk factors. CDAF demonstrates excellent performance on both benchmark datasets and other real clinical datasets. We empirically demonstrate that our framework offers a powerful tool for uncovering complex disease mechanisms, advancing precision medicine, and enabling personalized treatment strategies.

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Cite this article:
Zhao W, Li P, Yu C, et al. CDAF: A Causality Driven Analysis Framework for Disease Risk Factor Identification. Tsinghua Science and Technology, 2026, https://doi.org/10.26599/TST.2026.90100015

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Received: 03 March 2025
Revised: 17 October 2025
Accepted: 28 January 2026
Published: 29 September 2026
© The author(s) 2027.

The articles published in this open access journal are distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/).