RESOURCE FOR HUMAN GENETICS--GENLINK

人类遗传学资源--GENLINK

• 批准号: 2209349
• 负责人: HELEN R DONIS-KELLER
• 金额: $ 38.99万
• 依托单位: WASHINGTON UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1995
• 资助国家: 美国
• 起止时间: 1995-01-05 至 1997-12-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2209349
• 关键词: chromosomes; computer graphics /printing; computer human interaction; computer program /software; computer system design /evaluation; genetic disorder; genetic library; genetic markers; genome; human genetic material tag; information systems; linkage mapping; molecular cloning

A large number of genetic markers and chromosome linkage maps are now available and have important applications including whole genome screens for chromosomal localization of disease causing genes. However, the process of planning and carrying out such projects is time consuming and inefficient. In collaboration with Tom Marr at Cold Spring Harbor Laboratory, who has developed the Genome Topographer (GT) database, we plan to develop a resource, GenLink, that will provide an extension to GT for retrieving human genetic map information which will facilitate genetic mapping and positional cloning research. We propose to develop software to support the GenLink database that will include a program that enables graphical representation and manipulation of linkage maps, data submission programs for the scientific community and GenLink staff, a tour program of the database, and continuation of development of an imaging system for genotypic data (DNA/GUI). In collaboration with Pam Fain we plan to develop a graphical user interface for her program, BINS, that constructs meiotic mapping panels. We plan to assemble and curate existing linkage mapping information (e.g. map graphics of all published linkage maps dating from 1992, genotype databases, meiotic mapping panels). In addition we plan to develop meiotic mapping panels for five chromosomes (2, 6, 8, 12, 14), to continuously update index map panels (including evaluation of new markers and preparation of electronic image files for distribution), and maintain a database of mapping data inconsistencies. An electronic bulletin board will be established to facilitate ongoing discussions such as mapping data inconsistencies and to continuously update the user community on the latest map developments. Software will be distributed through an FTP archive. Several forms of user support will be available including training workshops, an electronic user's manual, an electronic bulletin board, and telephone/e- mail communication with GenLink staff. A pilot project is proposed to develop tools for mapping disease loci (e.g. a means to select and use mapping panels for specific projects). GenLink will maintain ties to the underlying GT databases (e.g. GDB) and physical mapping information through daily updates to GT. Users may establish their own collaborating projects using GT/GenLink. GenLink will be developed using GemStone ODBMS, the SmallTalk-80 programming language, and the VisualWorks graphical interface building tool, and will be accessible through Internet. Information and access to maps will also be provided through the NCSA Mosaic system. An Advisory Board will be established to provide oversight and guidance for the development and operation of GenLink.

现在已经有了大量的遗传标记和染色体连锁图， 并且具有重要的应用，包括全基因组筛选 用于致病基因的染色体定位。但 规划和执行这些项目的过程是耗时的， 效率低下。在冷泉港与汤姆马尔合作 实验室，谁开发了基因组地形图（GT）数据库，我们 计划开发一个资源GenLink，它将提供一个扩展， 检索人类基因图谱信息， 基因图谱和定位克隆研究。我们建议发展 支持GenLink数据库的软件，包括一个程序， 使图形表示和操作的连锁地图，数据 科学界和GenLink工作人员的提交计划， 数据库的旅游计划，并继续开发一个 用于基因型数据的成像系统（DNA/GUI）。与Pam合作 我们计划为她的程序BINS开发一个图形用户界面， 构建了减数分裂图谱。我们计划召集和策划 现有的连接映射信息（例如所有已出版的 1992年的连锁图谱，基因型数据库，减数分裂作图 面板）。此外，我们计划开发五个减数分裂作图面板 染色体（2，6，8，12，14），以不断更新索引图面板 （包括新标记物的评价和电子图像的制备） 用于分发的文件），并维护映射数据的数据库 前后矛盾将建立一个电子公告板， 促进正在进行的讨论，如测绘数据不一致， 不断向用户介绍最新的地图发展情况。 软件将通过FTP存档分发。几种形式的 将提供用户支持，包括培训讲习班， 电子用户手册、电子公告板和电话/电子 与GenLink工作人员进行邮件通信。建议开展一个试点项目， 开发绘制疾病位点的工具（例如，选择和使用 用于特定项目的映射面板）。GenLink将与 底层GT数据库（例如GDB）和物理映射信息 通过每日更新GT。用户可以建立自己的协作 使用GT/GenLink的项目。GenLink将使用GemStone开发 ODBMS、SmallTalk-80编程语言和VisualWorks 图形界面构建工具，并将通过 互联网还将通过以下途径提供信息和地图 NCSA马赛克系统 将设立一个咨询委员会， 监督和指导GenLink的开发和运营。