Using Bayesian networks to discover relations between genes, environment, and disease by Chengwei Su, Angeline Andrew, Margaret R Karagas and Mark E Borsuk. (BioData Mining 2013, 6:6 doi:10.1186/1756-0381-6-6)
We review the applicability of Bayesian networks (BNs) for discovering relations between genes, environment, and disease. By translating probabilistic dependencies among variables into graphical models and vice versa, BNs provide a comprehensible and modular framework for representing complex systems. We first describe the Bayesian network approach and its applicability to understanding the genetic and environmental basis of disease. We then describe a variety of algorithms for learning the structure of a network from observational data. Because of their relevance to real-world applications, the topics of missing data and causal interpretation are emphasized. The BN approach is then exemplified through application to data from a population-based study of bladder cancer in New Hampshire, USA. For didactical purposes, we intentionally keep this example simple. When applied to complete data records, we find only minor differences in the performance and results of different algorithms. Subsequent incorporation of partial records through application of the EM algorithm gives us greater power to detect relations. Allowing for network structures that depart from a strict causal interpretation also enhances our ability to discover complex associations including gene-gene (epistasis) and gene-environment interactions. While BNs are already powerful tools for the genetic dissection of disease and generation of prognostic models, there remain some conceptual and computational challenges. These include the proper handling of continuous variables and unmeasured factors, the explicit incorporation of prior knowledge, and the evaluation and communication of the robustness of substantive conclusions to alternative assumptions and data manifestations.
From the introduction:
BNs have been applied in a variety of settings for the purposes of causal study and probabilistic prediction, including medical diagnosis, crime and terrorism risk, forensic science, and ecological conservation (see ). In bioinformatics, they have been used to analyze gene expression data [8,9], derive protein signaling networks [10-12], predict protein-protein interactions , perform pedigree analysis , conduct genetic epidemiological studies , and assess the performance of microsatellite markers on cancer recurrence .
Not to mention criminal investigations: Bayesian Network – [Crime Investigation] (Youtube).
Once relations are discovered, you are free to decorate them with roles, properties, etc., in other words, associations.