The Variant Explorer: a cloud-based data integration and visualization system for improving clinical interpretation of sequenced genetic variants.

Project Summary SolveBio is the operating system for molecular informationSolveBio provides data infrastructure with genomics specific mapping technology and application programming interfacesAPIsand graphical user interfacesGUIsfor scientistsbioinformaticiansand software engineersThe goal of this Phase II SBIR proposal is to develop the Variant ExplorerVEa cloud based graphical analysis software that significantly increases speedaccuracyand serendipitous scientific discovery for biomedical research and clinical professionals analyzing human genetic variationNext generation sequencingNGStechnology has revolutionized the clinical practice of diagnosing rare genetic diseases and has the potential to become standard practice across many medical disciplinesThe single most intractable challenge is that current practices for the analysis of sequenced genetic variants require an exorbitant amount of manual analysis by skilled biomedical professionalsthis human time requirement is incapable of scaling with NGS volumeThe proposed productSolveBio s Variant Exploreris a cloud based graphical software system that is a complete variant analysis solutionThe technical innovation lies in SolveBio s proprietary data infrastructurebiomedical entity mapping technologyand well designed applications that lie on top of the data and biomedical entity layersThe long term goal of this project is to exponentially improve speedaccuracyand efficiency in genetic variant analysisSolveBio s Variant Explorer will help unclog the analysis bottleneck and pave the way for widespread adoption of NGS based technology and the realization of precision medicine Project Narrative In this Phase II SBIRSolveBio plans to develop a cloud based software system that combines disparate and complex reference databasesgenetic variant normalizationand scientist focused user interfaces to improve efficiency and accuracy in analyzing how sequenced genetic variants cause genetic diseasesThis research and development project will solve an unmet need in clinical and translational research and will ultimately support the realization of precision medicine!