Rare genetic diseases are individually rare but collectively quite common, affecting approximately 3 million Canadians. Unlike common diseases, genetic causes for rare diseases must often be hypothesized from plausibility criteria and identified through progressive exclusion of candidate variants in a single case or a small number of heterogeneous cases. Few integrated software systems exist to aide geneticists, and commercially products available are often expensive, based on closed-source algorithms, and have diagnostics criteria that depend strongly on well characterized disorders. The goal of the project is to improve this by putting more powerful, open-source tools for reproducible causal-gene discovery in the hands of Alberta geneticists, meeting a significant unmet need in the Alberta health genomic community.