Hypothesis-Driven Specialization-based Analysis of Gene Expression Association Rules

Thakkar, Dharmesh

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Hypothesis-Driven Specialization-based Analysis of Gene Expression Association Rules

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During the development of many diseases such as cancer and diabetes, the pattern of gene expression within certain cells changes. A vital part of understanding these diseases will come from understanding the factors governing gene expression. This thesis work focused on mining association rules in the context of gene expression. We designed and developed a tool that enables domain experts to interactively analyze association rules that describe relationships in genetic data. Association rules in their native form deal with sets of items and associations among them. But domain experts hypothesize that additional factors like relative ordering and spacing of these items are important aspects governing gene expression. We proposed hypothesis-based specializations of association rules to identify biologically significant relationships. Our approach also alleviates the limitations inherent in the conventional association rule mining that uses a support-confidence framework by providing filtering and reordering of association rules according to other measures of interestingness in addition to support and confidence. Our tool supports visualization of genetic data in the context of a rule, which facilitates rule analysis and rule specialization. The improvement in different measures of interestingness (e.g., confidence, lift, and p-value) enabled by our approach is used to evaluate the significance of the specialized rules.

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