Fig. 2.

Typical workflow for finding treatments related to a rare Mendelian disease using multiple BioThings APIs. An upstream analysis first identified some variants related to a rare Mendelian disease. Next, the analyst wanted information about genes where these variants are located (step a, b). Then, from the genes, the analyst would like to know all the pathway information where these genes are involved (step c, d). Furthermore, the analyst would also like to know other genes involved in these pathways (step e, f). Finally, the analyst wanted to obtain information about all available treatment options (e.g. drugs) available targeting all these genes obtained in the previous steps (step g)