RESOURCE FOR HUMAN GENETICS--GENLINK

目前已有大量的遗传标记和染色体连锁图谱

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.