Bioinformatics

生物信息学

• 批准号: 8543552
• 负责人: JEFFREY P. BOND
• 金额: $ 17.7万
• 依托单位: UNIVERSITY OF VERMONT & ST AGRIC COLLEGE
• 依托单位国家: 美国
• 财政年份: 2004
• 资助国家: 美国
• 起止时间: 2004-09-03 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/8543552
• 关键词: Automobile Driving; Biochemical; Bioinformatics; Catalysis; Computing Methodologies; DNA Repair; DNA Repair Enzymes; Data; Data Analyses; Databases; Defect; Enzyme Kinetics; Enzymes; Evaluation; Excision; Exhibits; Family Study; Frequencies; Genetic Recombination; Genetic Variation; Genome Stability; Human; Human Genetics; Informatics; Malignant Neoplasms; Mutation; Mutation Spectra; Play; Predisposition; Probability; Role; Service Statistics; Services; Spectrum Analysis; Structure; Testing; Variant; base; cancer therapy; carcinogenesis; design; repair enzyme; repaired; research study; statistical service; statistics

The specific aims of Core A are to provide informatics and statistics services, of which there are four: Specific Aim 1 Human gene variant database: To maintain a database of human germline or somatic sequence variation in five enzymes involved in DNA repair and recombination: NTHL1, NEIL1-3 and RAD51 Specific Aim 2 Prediction of the functional consequences of genetic variation: To use computational methods to identify germline or somatic sequence variants having, with high probability, altered function. Specific Aim 3 Enzyme kinetics: To identify sequence variants that have altered catalytic function by designing and analyzing enzyme kinetics experiments. Specific Aim 4 l\/lutation spectrum analysis: To identify sequence variants that show alter genomic stability in cellular studies by analyzing mutation spectra. Core A services are aligned with the test of our central hypothesis, that defects in the enzyme families we study result in aberrant base excision and homology-directed repair which is the engine driving human carcinogenesis. The gene variant database and predictions of the functional consequences of genetic variation (Aims 1-2) will be used by Projects 1-3 to identify enzyme sequence variants for biochemical and cellular studies. The projects will produce data from biochemical and cellular studies, which will then be used by Core A to evaluate the consequences of genetic variation for catalysis (Aim 3, Enzyme kinetics analysis) and genomic stability (Aim 4, Mutation spectrum analysis).

核心A的具体目标是提供信息学和统计服务，其中有四个： 具体目标 1 人类基因变异数据库：维护人类种系或体细胞数据库 参与 DNA 修复和重组的五种酶的序列变异：NTHL1、NEIL1-3 和 RAD51 具体目标 2 预测遗传变异的功能后果：使用计算方法 鉴定具有高概率功能改变的种系或体细胞序列变体。 具体目标 3 酶动力学：通过以下方式鉴定改变催化功能的序列变体： 设计和分析酶动力学实验。 具体目标 4 l/lutation 谱分析：识别显示改变基因组稳定性的序列变体 通过分析突变谱进行细胞研究。 核心 A 服务与我们中心假设的检验相一致，即我们的酶家族存在缺陷 异常碱基切除和同源定向修复的研究结果是驱动人类的引擎 致癌作用。基因变异数据库和遗传功能后果的预测 项目 1-3 将使用变异（目标 1-2）来识别生物化学和生物化学的酶序列变异 细胞研究。这些项目将产生生化和细胞研究的数据，然后将这些数据 Core A 使用它来评估遗传变异对催化的影响（目标 3，酶动力学 分析）和基因组稳定性（目标 4，突变谱分析）。