Core D The Developmental Genomics Core (Core D) represents a new component of the DAB MRRC created by integrating the resources from three existing groups - the Genomics Core Laboratory of the GCRC, the Heflin Center for Human Genetics, and the Medical Genomics Laboratory of the Department of Genetics - enabling an increase in the scope of activities and support to the core. The completion of the human genome sequence has revealed the full complement of human genes, but the function of most of these genes and their RNA or protein products remains unknown. Careful study of the phenotypes associated with human genetic disorders offers a major opportunity to annotate the genome sequence by documenting the phenotypes associated with sequence changes throughout the genome. Achieving this goal requires provision of tools for standardized phenotypic assessment and storage of data;genotyping patient DMA for variation in known genes;and discovery of genes responsible for novel phenotypes. The Developmental Genomics Core will facilitate a more complete characterization of the function of human genes involved in developmental disorders and will enhance the ability of investigators to translate their research findings to clinical application. Specific services will include: Clinical Study Coordination: Assistance with collection of clinical information and DNA or tissue samples. This includes coordination of patient and family recruitment, creation and maintenance of phenotypic databases, and DNA and tissue collection and storage; Genotyping: Genotyping services for genetic linkage analysis or mutation screening of candidate loci. Services include consultation on experimental design, genotypic analysis, and data interpretation;and Translational Genomics: Development of clinical molecular genetic diagnostic assays that can be performed in a CLIA-licensed clinical laboratory. This relieves the research laboratory of the demand for clinical testing while maintaining the researcher's access to samples for phenotype-genotype correlation study.
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