Fig 3. Genotype by concept i2b2 workflow.

User starts by building a patient set (1) that includes patients diagnosed with malignant neoplasm of breast (ICD-10-CM, C50). The user also selects to return patients who have consented to share genotype information. The query goes on to request genotype distributions for two mutations (rs16942, rs1799966). The query specifies to group by various medications prescribed (2). The genotype distributions are returned in report format for each genomic position, and for each clinical subgroup (3). The user can switch between genomic positions, clinical subgroups, and change the type of plot.