CSHL HUMAN GENOME INFORMATICS RESEARCH RESOURCE

CSHL人类基因组信息学研究资源

• 批准号: 2430548
• 负责人: Thomas G Marr
• 金额: $ 79.76万
• 依托单位: COLD SPRING HARBOR LABORATORY
• 依托单位国家: 美国
• 财政年份: 1995
• 资助国家: 美国
• 起止时间: 1995-06-20 至 1998-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2430548
• 关键词: computer assisted sequence analysis; computer network; computer program /software; genetic disorder; genome; human genetic material tag; information systems; nucleic acid sequence; protein sequence

The methods and materials resulting from the HGP are well suited to meet the challenges in the study of human genetics diseases (including predisposed risk and spontaneous mutations), which require the ability to detect and sort out heterogeneous, polygenic, and epistatic genetic effects, modulated by environmental factors. It is our thesis that gene finding and functional analysis could be greatly accelerated using state- of -the art computer methodologies if (1) relevant data were represented in a simple, reproducible and integrated manner, (2) the timeliness of the flow of such data between small, hypothesis driven research labs and large genome centers was optimized, (3) basic researchers were empowered with"user-friendly", but technically powerful, tools for computer-aided interpretation of the data. Therefore, we propose to scale up our work on such a system, the Genome Topographer (GT). Specifically, the aims of this NCHGR P41 grant are: 1. To optimize the ability of users of GT to gather and merge highly detailed genetic, molecular and biochemical data from the major genome centers, various public databases (e.g. GenBank, GDB, CHLC, Mouse Genome Database, various ACeDB-based files), and the scientific literature. 2. To integrate a state-of-the-art sequence analysis and interpretation tool within the GT framework, called Sequence Analyst (SA). SA is designed to help the user perform and interpret sensitive sequence analyses using methods that are known to be mathematically optimal, while remaining compatible with existing approaches, such as BLAST and FASTA. 3. To provide adequate services, training and documentation to ensure rapid access by the research community to the technology and information described herein.

HGP产生的方法和材料非常适合满足 研究人类遗传学疾病的挑战（包括 倾向的风险和自发突变），需要能力 检测和分类异质，多基因和上毒遗传 效果，受环境因素调节。 我们的论点是基因 使用状态 - 可以极大地加速查找和功能分析 - 如果（1）表示相关数据，则为艺术计算机方法 以简单，可重复和整合的方式，（2） 小型假设驱动的研究实验室和 优化了大型基因组中心，（3）基础研究人员授权 使用“用户友好”但技术功能强大的计算机辅助工具 数据解释。 因此，我们建议扩大我们的工作 在这样的系统上，基因组地形学家（GT）。 具体来说，目的 该NCHGR P41赠款的赠款是：1。优化GT用户的能力 收集并合并高度详细的遗传，分子和生化 来自主要基因组中心的数据，各种公共数据库（例如 GenBank，GDB，CHLC，鼠标基因组数据库，基于ACEDB的各种文件）， 和科学文献。 2。整合最先进的 GT框架中的序列分析和解释工具称为 序列分析师（SA）。 SA旨在帮助用户执行和 使用已知为的方法来解释敏感序列分析 数学上最佳，同时与现有 接近爆炸和Fasta之类的方法。 3。提供适当的服务， 培训和文档以确保研究快速访问 本文所述的技术和信息的社区。