Figure 5. Phenotype-to-Genotype Mapping: Assessing combinatorial variant-contribution to disease phenotypes general workflow.

Input data are variant-call files in .vcf format collected from patient samples. The feature-selection module collects all available annotation information for each identified variant, then narrows down to variants most likely to be associated with the phenotype based on user-specified parameters. These feature-selected variants are then analyzed for combinatorial contribution to the disease using the tools in the analysis module. The output of the analysis modules are tables and graphs that summarize the results.