RESOURCE FOR HUMAN GENETICS--GENLINK

大量的遗传标记和染色体连锁图谱现已问世 可用并具有包括全基因组筛选在内的重要应用 用于致病基因的染色体定位。然而， 规划和实施这些项目的过程既耗时又费力 效率低下。与汤姆·马尔在冷泉港合作 实验室开发了基因组拓扑仪(GT)数据库，我们 计划开发资源GenLink，该资源将提供 GT用于检索人类遗传图谱信息，这将有助于 遗传作图和位置克隆研究。我们建议开发 支持GenLink数据库的软件，该数据库将包括一个程序 支持以图形方式表示和操作链接图、数据 科学界和GenLink工作人员的提交计划，a 数据库的巡视计划，以及AN的继续开发 基因数据成像系统(DNA/图形用户界面)。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 现有的链接地图信息(例如，所有已发布的地图图形 1992年以来的连锁图谱、基因数据库、减数分裂图谱 面板)。此外，我们计划开发五个减数分裂图谱面板 染色体(2、6、8、12、14)，以持续更新索引地图面板 (包括评估新的标记和准备电子图像 用于分发的文件)，并维护地图数据的数据库 前后不一致。将建立电子公告牌，以 促进持续的讨论，如映射数据不一致和 不断向用户社区更新地图的最新发展。 软件将通过一个文件传输协议档案分发。几种形式的 将提供用户支持，包括培训研讨会、 电子用户手册、电子公告牌和电话/电子邮件- 通过电子邮件与GenLink员工进行沟通。建议开展一项试点项目，以 开发绘制疾病位置图的工具(例如，选择和使用 绘制特定项目的地图面板)。GenLink将保持与 底层GT数据库(例如GDB)和物理映射信息 通过对GT的每日更新。用户可以建立自己的协作 使用GT/GenLink的项目。GenLink将使用宝石开发 ODBMS、SmallTalk-80编程语言和VisualWorks 图形界面构建工具，可通过 网际网路。还将通过以下方式提供信息和地图访问 NCSA马赛克系统。将成立一个咨询委员会，以提供 对GenLink的开发和运营进行监督和指导。

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.