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

SBIR 第一阶段：用于靶向基因组学的创新软件和数据库工具

• 批准号: 1843341
• 负责人: Jill Pecon-Slattery
• 金额: $ 22.5万
• 依托单位: CORNERSTONE GENOMICS LLC
• 依托单位国家: 美国
• 项目类别: Standard Grant
• 财政年份: 2019
• 资助国家: 美国
• 起止时间: 2019-02-01 至 2020-01-31
• 项目状态: 已结题
• 来源: https://www.nsf.gov/awardsearch/showAward?AWD_ID=1843341&HistoricalAwards=false
• 关键词: SBIR; Phase; Innovative; software; database; SBIR; Phase; Innovative; software; database

The broader impact/commercial potential of this Small Business Innovation Research (SBIR) project is the development of a unique cloud computing platform with a novel database and bioinformatic software package to address the strong demand for transformative foundational resources crucial to interpret the biological function of DNA variation sequestered within and between genomes. The goal is to target a broad scope of laboratories investigating human genomics and disease, comparative and evolutionary genomics, systems biology, animal health and veterinary sciences, and wildlife biodiversity and conservation. The product will offer opportunities to advance cross-disciplinary research to keep pace with the accelerating rate of DNA sequence variant discoveries driving the extraordinary growth of the genomics industry. This vision is founded on the continued rapid growth projections (in billions of dollars) for the genomics market and the concomitant increase in the need for integrative tools and services. The technology will allow customers to save time and research costs, experience substantial increases in efficiency and accuracy, and explore, in precise detail, complex gene networks and pathways. The intellectual merit of this SBIR Phase I project is to resolve a critical impasse in genomic workflow where inconsistent or unreliable identification of DNA variant function prevents actionable discoveries. Using the customized suite of bioinformatic tools provided by this technology development, the customer will be able to interrogate the database for any gene or gene system of interest, determine the normal range of DNA changes tolerated by the gene within functional space, and screen their own data against this baseline to identify variants causative in altered biological function and phenotypic traits. The research objectives include: Compiling proprietary and novel DNA sequences from thousands of genes, establishing and confirming the precise arrangement of these gene sequences guided by shared common ancestry to create the database framework, establishing a plan for product software and content to guide the user through proper use of the database and interpret variant function, and developing strategies to ensure product security and cloud-computing service data visualization and display to protect the processing of user data when passed within the software.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.

这项小型企业创新研究（SBIR）项目的更广泛的影响/商业潜力是开发一个独特的云计算平台，具有新颖的数据库和生物信息学软件包，以解决对转化基础资源的强大需求，这对于解释基因组和基因组之间的DNA变异的生物学功能至关重要。目的是针对研究人类基因组学和疾病，比较和进化基因组学，系统生物学，动物健康和兽医科学以及野生动植物生物多样性和保护的广泛实验室。该产品将提供推进跨学科研究的机会，以与DNA序列变体的加速速率保持同步，从而推动了基因组学行业的非凡增长。 该愿景建立在基因组市场的持续快速增长预测（数十亿美元）上，以及对综合工具和服务的需求随之增加。 该技术将使客户能够节省时间和研究成本，经历效率和准确性的大幅提高，并精确地探索复杂的基因网络和途径。 该SBIR I期项目的智力优点是解决基因组工作流中的关键僵局，在这种工作流中，对DNA变异功能的不一致或不可靠的鉴定可以阻止可行的发现。使用该技术开发提供的生物信息学工具的定制套件，客户将能够质疑任何感兴趣的基因或基因系统的数据库，确定基因在功能空间内耐受的DNA变化的正常范围，并筛选其对本基线的数据，以识别其基线以识别变异性的生物学功能和现象型特征。 The research objectives include: Compiling proprietary and novel DNA sequences from thousands of genes, establishing and confirming the precise arrangement of these gene sequences guided by shared common ancestry to create the database framework, establishing a plan for product software and content to guide the user through proper use of the database and interpret variant function, and developing strategies to ensure product security and cloud-computing service data visualization and display to protect the processing of user data when passed within the该奖项反映了NSF的法定任务，并通过使用基金会的知识分子优点和更广泛的影响评估标准评估，被认为值得支持。