NEW YORK (GenomeWeb) – Genomics data infrastructure provider SolveBio announced today that it has received a $223,181 Phase I Small Business Innovation Research Grant from the National Institute of General Medical Sciences to develop a genetic variation analysis and visualization system called Variant Explorer.
The company said it will use the funds to develop the Variant Explorer to serve as a tool that clinical geneticists, molecular pathologists, and pharmaceutical industry and academic researchers can use to make clinical decisions for patients requiring a genetic diagnosis.
It is a cloud- based graphical software system relying on SolveBio's core programmatic and scalable data pipeline technology, the company wrote in its grant. "The long-term goal of this project is to exponentially improve speed, accuracy, and efficiency in genetic variant analysis so that patients suffering from genetic diseases suitable for NGS-based analyses receive timely, cost-efficient, and accurate results," SolveBio added. "Our Phase I hypothesis is that SolveBio's reference data infrastructure and user-oriented design will systematically reduce and streamline the manual analysis steps in variant interpretation."
In Phase II, the company noted, it plans to build out Variant Explorer into a modular and complete data-analysis product, "with a variant classifier capable of assigning a preliminary clinical significance to each variant."
In a statement, SolveBio CSO Dandan Xu noted that variant interpretation and analysis "is now the single most intractable bottleneck in the next-generation sequencing-based workflow." The Variant Explorer, she added, "is an interface to the SolveBio contextual knowledge hub for genetic variants that need to be evaluated and classified. The combination of curated and actionable data and an enjoyable user interface allows the scientist and clinician to evaluate genetic variants more efficiently and effectively. We see this advancement in information visualization and analysis as being integral to realizing the promise of precision medicine."