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. Author manuscript; available in PMC: 2016 Jan 21.
Published in final edited form as: Pac Symp Biocomput. 2016;21:231–242.

Figure 1. A reproducible and shareable workflow for quantifying pathogenicity assertions.

Figure 1

Screenshot from the IPython “digital notebook” that accompanies this manuscript. The interactive computing notebook combines executable code (written in blocks), mathematical expressions, and text annotations. Code is provided to retrieve ClinVar annotations, PubMed references, and frequency data for any disease in ClinVar. The user can explicitly specify genetic model assumptions to compute penetrance and perform sensitivity analyses. Available at: https://github.com/manrai/Pathogenicity_Notebook.