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

这个小型企业创新研究（SBIR）第二阶段项目的更广泛影响是纠正长期存在的问题，这些问题阻碍了基因组数据彻底改变人类生物医学和动物健康的承诺。到2024年，美国的基因组服务产业预计将达到27亿美元（复合年增长率为16%）。拟议的项目是一个基于云的平台，由一个数据库和一套软件分析工具组成，可以快速准确地评估基因变异对生物功能或性状以及疾病的影响。这将使研究人员能够在人类生物医学的广泛问题上推进治疗，如癌症;糖尿病;神经系统，心脏和发育疾病等。该SBIR第二阶段项目将解决研究挑战中的长期缺陷，导致更高的成本，长时间的延迟和未能推进科学发现。 SBIR第二阶段项目的技术目标包括：1）扩展方法，为精确组织的中央数据库生成、验证和注释高质量的DNA序列数据; 2）为最终用户组装和实施软件内容、独特的补充数据库和强大的应用程序; 3）设计云平台的软件、架构和性能，以实现最终用户的最佳易用性和可访问性。 该解决方案将通过快速、准确地评估基因变异对生物功能、表型性状或疾病的影响，改变靶向基因组学的当前应用。该奖项反映了NSF的法定使命，并通过使用基金会的智力价值和更广泛的影响审查标准进行评估，被认为值得支持。

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.