CORE--THE MUTATION AND CANDIDATE GENE RESOURCES

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Previously, the Genomic Resources Core centered upon developing DNA banking, tissue culture and genotyping expertise and support. It's success has led to the development of the Genomic Research Core in the Center for Human Genetics, which will now provide these functions to the projects. This allows the Core personnel to develop new resources to meet present and future project needs. With the advent of improved mapping resources the need will be for expertise and resources in mutation/candidate gene analysis and bioinformatics. It will provide technical expertise for automated sequencing, establishing mutational techniques as a resource for project personnel, to assist in both known gene and candidate gene mutation analysis. In addition, it will perform mutational screening for future and previous project disorders with known gene defects such as TS, VHL and NF. It will provide expertise in polymorphism technology as well. Software to handle the bioinformatics needs of the information available from the Human genome project, as well as project position cloning data will be established, such as physical mapping tools (ACEdB), gene annotation programs, mutational databases etc. Finally, the Core will maintain and continue to expand the physical resources of mapping including the YAC, PAC, cDNA libraries, screening filters and other resources.