CORE B: Genomics and Bioinformatics Core Facility Overview and Objectives The Genomics and Bioinformatics Core Facility combines our existing and expanding Microarray Gene Expression Facility, DNA Sequencing and Genotyping Facility, and Bioinformatics Facility into a single integrated Core. These resources have become so integral to cutting-edge research in the biological sciences that essentially every investigator in the MRDD will access them on a regular basis. Even investigators in the social sciences who do not use molecular genetics will be able to access the large and efficient data storage and retrieval resources, including large imaging data files. While these three facilities have previously functioned independently, their functions (Table B-1) are inseparable and we have begun to merge them into a single, integrated Core, a task that will be completed during the next two years. In this proposal, we have integrated description of these services as much as possible. While the Genomics and Bioinformatics Core Facility was primarily designed to support the use of molecular genetics and genome knowledge in biomedical research, we are well aware that many potential users lack the experience to take advantage of these tools;we have therefore incorporated both educational and experimental components to the core. The educational focus of the Facility is to increase MRDDC User awareness and sophistication in the use of genomic and bioinformatics solutions to their biomedical research problems. The experimental focus is to provide easy-to-use experimental and computational platforms, local updated genomics databases, and in-house expertise to help MRDDC researchers transform information from the genome to the study of biology and the practice of medicine, and to catalyze pioneering research at the interface between Biology and the Computational and Physical Sciences The facility will provide state-of-the-art microarray, DNA sequencing and genotyping platforms;specialized databases for storing, managing, and manipulating both clinical information (Phenotypes) and diverse types of genetic and genomic data (Genotypes);expert assistance in adapting one's data to modern database solutions;and high-speed, specialized hardware and sophisticated commercial and academic software tailored for genomic and bioinformatics research together with expert on-site assistance and educational hands-on workshops. MRDDC investigators who use the Facility will be guaranteed the highest standards of data protection, confidentiality, and HIPPA compliance currently available to academic researchers. The Facility is aimed towards biomedical researchers who are generally unfamiliar with whole genome and bioinformatics approaches, as well as experts seeking more sophisticated hardware, software, programming, or database solutions, or seeking to facilitate interdisciplinary collaborations. To maximize the utility of these resources we will maintain the latest copies of all major genomic databases thus allowing MRDDC investigators to perform all genomic and bioinformatics analyses at the highest possible speeds. A major goal of the Facility will be to provide investigators with scientific and technical staff who can assist with or collaborate on individual projects, and an educational program that allows investigators to seek their own levels of expertise and sophistication in a given application, while also raising awareness of new directions and major discoveries in the areas of genomics and bioinformatics.
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