Following data processing, analytical methods can be applied to test for significant pathway-phenotype relationships. Prominent examples of pathway-based analytical tools and their salient features are provided in Table 2. Notably, one class of tools employs text-mining of published abstracts to identify potential pathway-phenotype relationships. These tools query a list which may include SNPs meeting a p-value threshold, genes from candidate pathways, or pathways themselves, among other possibilities. Text-mining approaches have efficiently identified potential interactions among genes associated with neurodegenerative brain changes [20] and have equally been applied to generate a candidate pathway based on regulation or interaction with BRCA2 [44].
