Causal discovery from unstructured data is a challenging yet underexplored task in high-expertise domains such as healthcare, finance, and education. Existing methods typically leverage the general knowledge of large language models (LLMs) to identify causal factors from unstructured data and annotate them into structured data for causal graph construction. However, they remain limited by two key challenges (CHs): (CH1) insufficient identification of latent factors, which are implicit in the data yet essential for causal discovery, due to the lack of domain-specific knowledge; and (CH2) unreliable factor annotation, caused by the lack of domain-grounded reasoning, which propagates errors to the resulting causal graphs. To address these challenges, we introduce a novel Domain Knowledge-enhanced Causal Discovery framework (DKCD) for causal discovery from unstructured data in high-expertise domains with three interconnected components: (1) Knowledge Mining: It retrieves relevant domain knowledge based on observable factors to support subsequent causal reasoning. (2) Knowledge-guided Causal Reasoning: Reasoning with relevant knowledge, it discovers latent causal factors to address CH1 and generates key causal clues for more accurate data annotation to address CH2. (3) Causal Structure Discovery: It constructs the final causal graphs based on a more complete factor set and accurate annotations. Experiments on two domain-specific datasets show that DKCD significantly improves both causal factor identification and causal graph construction.
Causal Discovery (CD) from observational data faces two fundamental challenges. First, purely statistical methods often lack the power to resolve structural ambiguities in low-sample regimes. Second, although LLM-assisted hybrid approaches improve structure recovery through semantic reasoning, the influence of that reasoning on individual edge decisions remains largely opaque. Consequently, existing hybrid methods fail to satisfy a fundamental requirement: explaining why a particular edge is included or excluded in the learned directed acyclic graph (DAG). This is critical in real-world applications, where no ground-truth DAG exists and every structural decision must be independently justified. We formalize this requirement as decision traceability, requiring every inferred edge to be supported by auditable statistical evidence, Markov Blanket consistency, or explicit domain reasoning. We propose GENESIS, an explainable hybrid CD framework that decomposes graph construction into interpretable decision points. GENESIS first identifies and scores three-node structural motifs, including chains, forks, and colliders, to establish transparent structural priors, then progressively refines the graph by integrating these priors with observational evidence, invoking domain knowledge only when statistical evidence is insufficient. By design, every edge decision is resolved through an auditable source of evidence. Experiments show that GENESIS achieves 100% decision traceability across all settings, establishing explainability as a first-class objective in causal discovery. Despite this additional requirement, GENESIS consistently outperforms purely statistical CD methods on the majority of benchmark datasets across all sample regimes in terms of Structural Hamming Distance (SHD), while achieving performance comparable to state-of-the-art LLM-assisted approaches.
Abhinav Thorat, Ravi Kumar Kolla, Vishak K Bhat +2
Causal discovery, the process of recovering underlying causal structures from observational data, is a fundamental pursuit across scientific disciplines. Over the past decades, numerous algorithms have been developed to tackle this challenge through workflows tailored to the specific causal mechanisms underlying each type of dataset, demonstrating effectiveness across a wide range of applications. However, as the volume and heterogeneity of real-world data continue to grow, this dataset-specific approach inevitably leads to a fragmented, test-driven paradigm that struggles to scale to the demands of modern scientific discovery. To address this, we formulate the Causal Discovery Foundation Model (CDFM) as a unified, general-purpose framework for zero-shot structural inference. To ensure reliable generalization across unknown domains, we first investigate the theoretical boundaries of causal identifiability, revealing the indispensable role of causal prior mechanisms in this process. Building on these insights, we formulate a principled variational framework that treats unknown causal mechanisms as latent variables and mathematically decomposes the intractable marginal likelihood into distinct, tractable learning modules. The variational decomposition provides a conceptual design principle for the architecture design of CDFM, while comprehensive causal knowledge guides the large-scale synthesis of our pretraining data. By pretraining on a massive, highly diverse space of synthetic structural causal models, CDFM successfully internalizes complex statistical asymmetries. Extensive experiments demonstrate that CDFM consistently outperforms traditional algorithms, driving a paradigm shift toward a general-purpose causal discovery foundation model.
Expert background knowledge is often available in practical applications of causal discovery. Such constraints on the true causal graph can help causal discovery in terms of identifiability of causal effects and accuracy of the learned structure, but also in reducing the space of candidate causal graphs. As causal discovery can become computationally expensive for large number of variables, it is crucial to utilize background knowledge effectively during the causal discovery process. However, most current methods only use background knowledge in a postprocessing step after causal discovery to refine the learned graph. In this work, we develop a framework for utilizing background knowledge during the causal discovery process, focusing especially on scalable causal discovery methods that recover only a subset of the whole graph. We implement our framework for multiple algorithms and empirically show that utilizing background knowledge can both reduce computational requirements and increase the quality of the learned structures.
Mátyás Schubert, Theofanis Aslanidis, Tom Claassen +1