LocalVar: a local variant collection manager to asynchronously detect synonyms, HGVS expression changes, and variant interpretation changes from ClinVar.

While there are several public repositories of biological sequence variation data and associated annotations, there is little open-source tooling designed specifically for the upkeep of local collections of variant data. Many clinics curate and maintain such local collections and are burdened by frequent changes in the representation of those variants and evolving interpretations of clinical significance. A dictionary of genetic variants from the Huntsman Cancer Institute was analyzed over a period of two years and used to inform the development of LocalVar.

Evaluation of need for ontologies to manage domain content for the Reportable Conditions Knowledge Management System.

The Reportable Condition Knowledge Management System (RCKMS) is envisioned to be a single, comprehensive, authoritative, real-time portal to author, view and access computable information about reportable conditions. The system is designed for use by hospitals, laboratories, health information exchanges, and providers to meet public health reporting requirements. The RCKMS Knowledge Representation Workgroup was tasked to explore the need for ontologies to support RCKMS functionality.