Abstract
Introduction: Existing methods such as correlation plots and cluster heat maps are insufficient in the visual exploration of multiple associations between genetics and phenotype, which is of importance to achieve a better understanding of the pathophysiology of psychiatric and other illnesses. The implementation of a combined presentation of effect size and statistical significance in a graphical method, added to the ordering of the variables based on the effect-ordered data display principle was deemed useful by the authors to facilitate in the process of recognizing meaningful patterns in these associations.
Materials and methods: The requirements, analyses and graphical presentation of the feature-expression heat map are described. The graphs display associations of two sets of ordered variables where a one-way direction is assumed. The associations are depicted as circles representing a combination of effect size (color) and statistical significance (radius).
Results: An example dataset is presented and relation to other methods, limitations, areas of application and possible future enhancements are discussed.
Conclusion: The feature-expression heat map is a useful graphical instrument to explore associations in complex biological systems where one-way direction is assumed, such as genotype-phenotype pathophysiological models. (C) 2014 Elsevier Inc. All rights reserved.
Original language | English |
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Pages (from-to) | 156-161 |
Number of pages | 6 |
Journal | Journal of Biomedical Informatics |
Volume | 53 |
DOIs | |
Publication status | Published - Feb-2015 |
Keywords
- Graph
- Heat map
- Method
- Phenotype
- Genotype
- Associations
- GENE-EXPRESSION
- BIPOLAR DISORDER
- CLUSTER-ANALYSIS
- DISCOVERY
- DISPLAYS
- BIOLOGY
- NEED