System to predict novel genetic disease associations

预测新型遗传疾病关联的系统

• 批准号: 6934988
• 负责人: MARTIN G REESE
• 金额: $ 9.98万
• 依托单位: FABRIC GENOMICS INC.
• 依托单位国家: 美国
• 财政年份: 2005
• 资助国家: 美国
• 起止时间: 2005-05-03 至 2005-10-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6934988
• 关键词: computer program /software; computer system design /evaluation; gene interaction; genetic disorder; genetic markers; genetic polymorphism; information retrieval; information system analysis; molecular biology information system

DESCRIPTION (provided by applicant): Rapid advances in biotechnology and clinical studies have produced an information bottleneck in data processing that has hindered application of such critical scientific data for use in medicine and disease diagnosis. Omicia will develop a novel genetics based informatics infrastructure to overcome this bottleneck that can predict the functional outcome of gene mutations and their relationship to human disease by integrating diverse knowledge bases in a consistent and structured manner. Implementation of the technology will reduce the cost and enhance the effectiveness of genetic association studies, population profiling analyses and pharmacogenomic applications, as well as potentially identify novel gene targets for disease. Our technology will mine classification systems for large number of genes and create statistical associations as well as integrate ontologies to allow for reliable inferences about functions of genes and their relation to disease phenotypes. Importantly, the predictive capabilities of the technology will assign functions to orphan genes and genetic markers for which very little functional information is available. The IT system will consist of a classification of genes into families using shared attributes in a number of well-structured domains to create a gene inference system (GIS) by comparing gene ontologies in GO with disease ontologies in MeSH. It will also use the well-annotated HGMD database to infer novel disease-related function to unannotated polymorphisms such as those in dbSNP. These studies are designed to demonstrate the feasibility of the technology so that it can be validated through future genetic association studies in a Phase II SBIR.

描述（由申请人提供）：生物技术和临床研究的快速进步产生了数据处理中的信息瓶颈，这阻碍了这种关键的科学数据用于医学和疾病诊断。 Omicia将开发一种基于遗传学的新型信息学基础设施，以克服这种瓶颈，可以通过以一致且结构化的方式整合多样化的知识基础来预测基因突变的功能结果及其与人类疾病的关系。该技术的实施将降低成本，并提高遗传关联研究的有效性，人群分析分析和药物基因组的应用，并可能识别出疾病的新基因靶标。 我们的技术将为大量基因开采分类系统，并建立统计关联并整合本体，以允许对基因功能及其与疾病表型的关系进行可靠的推论。重要的是，该技术的预测能力将把功能分配给孤儿基因和遗传标记，而这些功能很少。 IT系统将通过在许多结构良好的域中使用共享属性将基因分类为家族，以创建基因推断系统（GIS），通过将基因本体论与网格中的疾病本体论进行比较。它还将使用良好的HGMD数据库来推断与疾病相关的新功能，以将诸如DBSNP中的未经通知的多态性（如未经通知）。这些研究旨在证明该技术的可行性，因此可以通过II期SBIR中的未来遗传关联研究来验证它。