Core DThe Developmental Genomics Core (Core D) represents a new component of the DAB MRRC created byintegrating the resources from three existing groups - the Genomics Core Laboratory of the GCRC, theHeflin 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 humangenome sequence has revealed the full complement of human genes, but the function of most of thesegenes and their RNA or protein products remains unknown. Careful study of the phenotypes associatedwith human genetic disorders offers a major opportunity to annotate the genome sequence by documentingthe phenotypes associated with sequence changes throughout the genome. Achieving this goal requiresprovision of tools for standardized phenotypic assessment and storage of data; genotyping patient DMA forvariation in known genes; and discovery of genes responsible for novel phenotypes. The DevelopmentalGenomics Core will facilitate a more complete characterization of the function of human genes involved indevelopmental disorders and will enhance the ability of investigators to translate their research findings toclinical application. Specific services will include: Clinical Study Coordination: Assistance with collection ofclinical 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; andTranslational Genomics: Development of clinical molecular genetic diagnostic assays that can beperformed in a CLIA-licensed clinical laboratory. This relieves the research laboratory of the demand forclinical testing while maintaining the researcher's access to samples for phenotype-genotype correlationstudy.
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