SolveBio is the operating system for molecular information; SolveBio provides data infrastructure with genomics-specific mapping technology and application programming interfaces (APIs) and graphical user interfaces (GUIs) for scientists, bioinformaticians, and software engineers. The goal of this Phase II SBIR proposal is to develop the Variant Explorer (VE), a cloud-based graphical analysis software that significantly increases speed, accuracy, and serendipitous scientific discovery for biomedical research and clinical professionals analyzing human genetic variation. Next generation sequencing (NGS) technology has revolutionized the clinical practice of diagnosing rare genetic diseases and has the potential to become standard practice across many medical disciplines. The 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 professionals; this human time requirement is incapable of scaling with NGS volume. The proposed product, SolveBio?s Variant Explorer, is a cloud-based graphical software system that is a complete variant analysis solution. The technical innovation lies in SolveBio?s proprietary data infrastructure, biomedical entity mapping technology, and well-designed applications that lie on top of the data and biomedical entity layers. The long-term goal of this project is to exponentially improve speed, accuracy, and efficiency in genetic variant analysis. SolveBio?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.
In this Phase II SBIR, SolveBio plans to develop a cloud-based software system that combines disparate and complex reference databases, genetic variant normalization, and scientist-focused user interfaces to improve efficiency and accuracy in analyzing how sequenced genetic variants cause genetic diseases. This research and development project will solve an unmet need in clinical and translational research and will ultimately support the realization of precision medicine. !
