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Pathway Analysis and Its Applications
Abstract
As the scale of genetic, genomic, metabolomics, and proteomic data increases with advancing technology, new approaches leveraging domain expert knowledge, and other sources of functional annotation have been developed to aid in the analysis and interpretation of such data. Pathway and network analysis approaches have become popular in association analysis – connecting genetic markers or measures of gene product with phenotypes or diseases of interest. These approaches aim to leverage big data to better understand the complex etiologies of these traits. Findings from such analyses can help reveal interesting biological traits and/or help identify potential biomarkers of disease. In the current chapter, the authors review broad categories of pathway analyses and review advantages and disadvantages of each. They discuss both the analytical methods to detect phenotype-associated pathways and review the key resources in the field of human genetics that are available to investigators wanting to perform such analyses.
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