GENE MAPPING TECHNOLOGY AND BIOINFORMATICS

基因图谱技术与生物信息学

• 批准号: 6289696
• 负责人: SCOTT R DIEHL
• 金额: --
• 依托单位: NATIONAL INSTITUTE OF DENTAL & CRANIOFACIAL RESEARCH
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/6289696
• 关键词: alleles; computer assisted sequence analysis; computer system design /evaluation; genetic mapping; genetic markers; genotype; human data; human genetic material tag; information system analysis; robotics

Gene mapping studies using DNA markers to detect craniofacial and oral diseases utilize a wide variety of statistical techniques. We are developing a scheme to better integrate these software tools. Since many of these programs were written elsewhere using a variety of computer languages and input formats, integrating them with our internal database will streamline the analysis process. We are constantly updating our suite of statistical analysis tools as the field of genetic epidemiology is under very rapid development, with improved methods and computer programs regularly being made available. Collaborations with colleagues at the NIAAA and Queensland Institute of Medical Research have provided us with access to unpublished software programs for genetic analyses. In addition, we are continuing our efforts to improve the speed, accuracy and efficiency of genotyping for large-scale gene mapping studies. During the past year we have evaluated several alternative molecular marker sets for screening the entire human genome, including a newly available set of microsatellite markers based primarily on dinucleotide versus tetranucleotide repeats. Our collaboration with the NHGRI has provided us with access to their extensive experience in developing another marker set, including the method known as pig-tailing, which has been shown to substantially reduce artifacts associated with this method of marker genotyping. Additional efforts have been focused on incorporating our new instruments into these analyses including DNA sequencers and a robotic laboratory workstation.In order to efficiently keep track of the very large amounts of information essential for conducting large-scale genetic epidemiological studies, we are continuously undertaking ongoing development of our comprehensive data management system. This system is used for the management of clinical, pedigree and genotype data for gene mapping studies and other study designs involving research aimed at the oral and dental disorders under investigation by the Senior Investigator. Our goal is to have a fully integrated system that can manage clinical information, family histories, and marker-allele typing. In addition, this system should provide interactive procedures including: (1) extensive error checking; (2) generation of formatted files suitable for input to various linkage analysis programs; and (3) provide primer inventories and for tracking DNA samples and other biological specimens and laboratory reagents.

利用DNA标记检测颅面和口腔疾病的基因定位研究利用了各种各样的统计技术。我们正在制定一项计划，以更好地整合这些软件工具。由于这些程序中有许多是在其他地方使用各种计算机语言和输入格式编写的，因此将它们与我们的内部数据库集成将简化分析过程。随着遗传流行病学领域的快速发展，我们不断更新我们的统计分析工具套件，并定期提供改进的方法和计算机程序。与NIAAA和昆士兰州医学研究所的同事合作，为我们提供了未发表的遗传分析软件程序。此外，我们正在继续努力提高大规模基因定位研究中基因分型的速度、准确性和效率。在过去的一年中，我们已经评估了几种替代的分子标记集筛选整个人类基因组，包括一组新的微卫星标记主要基于二核苷酸与四核苷酸重复。我们与NHGRI的合作为我们提供了他们在开发另一种标记物集方面的丰富经验，包括被称为猪尾的方法，该方法已被证明可以大大减少与这种标记物基因分型方法相关的伪影。此外，我们亦致力将我们的新仪器，包括脱氧核糖核酸定序仪和一个自动化的实验室工作站，应用于这些分析。为了有效地掌握进行大规模遗传流行病学研究所需的大量资料，我们正不断发展我们的综合资料管理系统。该系统用于管理基因图谱研究和其他研究设计的临床、谱系和基因型数据，这些研究设计涉及高级研究者研究的口腔和牙科疾病。我们的目标是拥有一个完全集成的系统，可以管理临床信息，家族史和标记等位基因分型。此外，该系统应提供交互式程序，包括：（1）广泛的错误检查;（2）生成适合输入各种连锁分析程序的格式化文件;和（3）提供引物库存和跟踪DNA样品和其他生物标本和实验室试剂。