Dataset Information

Bayesian rule learning for biomedical data mining.

ABSTRACT:

Motivation

Disease state prediction from biomarker profiling studies is an important problem because more accurate classification models will potentially lead to the discovery of better, more discriminative markers. Data mining methods are routinely applied to such analyses of biomedical datasets generated from high-throughput 'omic' technologies applied to clinical samples from tissues or bodily fluids. Past work has demonstrated that rule models can be successfully applied to this problem, since they can produce understandable models that facilitate review of discriminative biomarkers by biomedical scientists. While many rule-based methods produce rules that make predictions under uncertainty, they typically do not quantify the uncertainty in the validity of the rule itself. This article describes an approach that uses a Bayesian score to evaluate rule models.

Results

We have combined the expressiveness of rules with the mathematical rigor of Bayesian networks (BNs) to develop and evaluate a Bayesian rule learning (BRL) system. This system utilizes a novel variant of the K2 algorithm for building BNs from the training data to provide probabilistic scores for IF-antecedent-THEN-consequent rules using heuristic best-first search. We then apply rule-based inference to evaluate the learned models during 10-fold cross-validation performed two times. The BRL system is evaluated on 24 published 'omic' datasets, and on average it performs on par or better than other readily available rule learning methods. Moreover, BRL produces models that contain on average 70% fewer variables, which means that the biomarker panels for disease prediction contain fewer markers for further verification and validation by bench scientists.

SUBMITTER: Gopalakrishnan V

PROVIDER: S-EPMC2852212 | biostudies-literature | 2010 Mar

REPOSITORIES: biostudies-literature

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Publications

Bayesian rule learning for biomedical data mining.

Gopalakrishnan Vanathi V Lustgarten Jonathan L JL Visweswaran Shyam S Cooper Gregory F GF

Bioinformatics (Oxford, England) 20100114 5

<h4>Motivation</h4>Disease state prediction from biomarker profiling studies is an important problem because more accurate classification models will potentially lead to the discovery of better, more discriminative markers. Data mining methods are routinely applied to such analyses of biomedical datasets generated from high-throughput 'omic' technologies applied to clinical samples from tissues or bodily fluids. Past work has demonstrated that rule models can be successfully applied to this prob ...[more]

PMID: 20080512

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Project description:Biomedical and life science literature is an essential way to publish experimental results. With the rapid growth of the number of new publications, the amount of scientific knowledge represented in free text is increasing remarkably. There has been much interest in developing techniques that can extract this knowledge and make it accessible to aid scientists in discovering new relationships between biological entities and answering biological questions. Making use of the word2vec approach, we generated word vector representations based on a corpus consisting of over 16 million PubMed abstracts. We developed a text mining pipeline to produce word2vec embeddings with different properties and performed validation experiments to assess their utility for biomedical analysis. An important pre-processing step consisted in the substitution of synonymous terms by their preferred terms in biomedical databases. Furthermore, we extracted gene-gene networks from two embedding versions and used them as prior knowledge to train Graph-Convolutional Neural Networks (CNNs) on large breast cancer gene expression data and on other cancer datasets. Performances of resulting models were compared to Graph-CNNs trained with protein-protein interaction (PPI) networks or with networks derived using other word embedding algorithms. We also assessed the effect of corpus size on the variability of word representations. Finally, we created a web service with a graphical and a RESTful interface to extract and explore relations between biomedical terms using annotated embeddings. Comparisons to biological databases showed that relations between entities such as known PPIs, signaling pathways and cellular functions, or narrower disease ontology groups correlated with higher cosine similarity. Graph-CNNs trained with word2vec-embedding-derived networks performed sufficiently good for the metastatic event prediction tasks compared to other networks. Such performance was good enough to validate the utility of our generated word embeddings in constructing biological networks. Word representations as produced by text mining algorithms like word2vec, therefore are able to capture biologically meaningful relations between entities. Our generated embeddings are publicly available at https://github.com/genexplain/Word2vec-based-Networks/blob/main/README.md.

Project description:AIM:To develop a framework to incorporate background domain knowledge into classification rule learning for knowledge discovery in biomedicine. METHODS:Bayesian rule learning (BRL) is a rule-based classifier that uses a greedy best-first search over a space of Bayesian belief-networks (BN) to find the optimal BN to explain the input dataset, and then infers classification rules from this BN. BRL uses a Bayesian score to evaluate the quality of BNs. In this paper, we extended the Bayesian score to include informative structure priors, which encodes our prior domain knowledge about the dataset. We call this extension of BRL as BRLp. The structure prior has a ? hyperparameter that allows the user to tune the degree of incorporation of the prior knowledge in the model learning process. We studied the effect of ? on model learning using a simulated dataset and a real-world lung cancer prognostic biomarker dataset, by measuring the degree of incorporation of our specified prior knowledge. We also monitored its effect on the model predictive performance. Finally, we compared BRLp to other state-of-the-art classifiers commonly used in biomedicine. RESULTS:We evaluated the degree of incorporation of prior knowledge into BRLp, with simulated data by measuring the Graph Edit Distance between the true data-generating model and the model learned by BRLp. We specified the true model using informative structure priors. We observed that by increasing the value of ? we were able to increase the influence of the specified structure priors on model learning. A large value of ? of BRLp caused it to return the true model. This also led to a gain in predictive performance measured by area under the receiver operator characteristic curve (AUC). We then obtained a publicly available real-world lung cancer prognostic biomarker dataset and specified a known biomarker from literature [the epidermal growth factor receptor (EGFR) gene]. We again observed that larger values of ? led to an increased incorporation of EGFR into the final BRLp model. This relevant background knowledge also led to a gain in AUC. CONCLUSION:BRLp enables tunable structure priors to be incorporated during Bayesian classification rule learning that integrates data and knowledge as demonstrated using lung cancer biomarker data.

Dataset Information

Bayesian rule learning for biomedical data mining.

Motivation

Results

Publications

Bayesian rule learning for biomedical data mining.

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