This application generates reports on inherited mutations in five genes (ANK1, SLC4A1, SPTA1, SPTB and EPB42) associated with the following rare Mendelian blood disorders: Hereditary Spherocytosis (HS), Hereditary Elliptocytosis (HE) and Hereditary Pyropoikilocytosis. It is driven by abductive reasoning expressed in Description Logic (DL). The application incorporates rules from genetic experts in red cell membrane disorders, and accesses various interpretation services for matching an individual's inherited variants to an expert's rule.
Abstract from upcoming paper:
Mutadelic is a tool that analyzes and prioritizes genomic variants by using Description Logic (DL) inferencing to generate workflows which are logically verifiable. It differs from other variant analysis frameworks in its flexibility and efficiency, processing only information that will contribute to interpretation of each variant. In cases where certain operations may be time-consuming and/or resource-intensive this leads to substantial improvements in the performance of a workflow. Workflows are dynamically generated using a novel abductive reasoning framework which was created for this project. These abductive workflows are logically verifiable because they are enforced by DL axioms and can be regenerated in the event of changes to underlying data or knowledge.The abductive workflow engine AbFab (A Basic Framework For Abductive Workflow Generation) was created. Criteria for identifying disease-causing variants in Mendelian blood disorders were identified and implemented as AbFab services. A web application was built allowing users to run workflows generated from the criteria to analyze genomic variants. Significant variants are flagged and explanations provided for why they match or fail to match the criteria.