SBIR Phase II: Innovative software and database tools for targeted genomics

The broader impact of this Small Business Innovation Research (SBIR) Phase II project is to rectify long-standing issues impeding the promise of genomic data to revolutionize human biomedicine and animal health. The genomic services industry is projected to reach $2.7 billion by 2024 (CAGR 16%) in the USA. The proposed project is a cloud-based platform consisting of a database and a suite of software analytical tools to enable rapid and accurate assessment of the impact of gene variants on biological function or trait, as well as disease. This will enable researchers to advance treatment across a broad spectrum of issues within human biomedicine, such as cancer; diabetes; neurological, cardiac, and developmental diseases, and many others. This SBIR Phase II project will address long-standing deficiencies in research challenges leading to higher costs, prolonged delays, and failure to advance scientific discovery. The technical objectives of the SBIR Phase II project include: 1) extend methods to generate, validate, and annotate high-quality DNA sequence data for a precisely organized central database; 2) assemble and implement software content, unique supplemental databases and powerful applications for the end user; 3) engineer the software, architecture and performance of the cloud platform for optimal ease of use and accessibility for the end user. The solution will transform current applications in targeted genomics through the rapid, accurate assessment of the impact of gene variants on biological function, phenotypic trait or disease. This award reflects NSF's statutory mission and has been deemed worthy of support through evaluation using the Foundation's intellectual merit and broader impacts review criteria.