Gene Analysis Core

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PROJECT SUMMARY The overall goal of the Gene Analysis Core of the Digestive Health Center (DHC) is to provide DHC investigators with fully integrated services to catalyze research on genetics and genomics using advanced instrumentation, reliable protocols, and knowledge for experimental planning and execution. The Core pursues this goal with four complementary aims. In the First Aim “to develop an integrated service structure for studies on gene sequence and function,” the Core integrates a comprehensive portfolio of services into one operational unit with a shared leadership of laboratories that provide gene-based assays and expert bioinformaticians and protein quantification technologies. This structure facilitates consultation and service requests by DHC investigators, with well-defined processes for service request, monitoring of progress, and data sharing. In the Second Aim “To generate genomics data using cutting edge assays to assess gene sequence and function,” the Core makes available to DHC investigators streamlined. In the Third Aim “to provide bioinformatics consultation and analysis for genetics and genomics studies,” the Core gives members opportunities for the optimization of experimental design, technology selection, bioinformatics, and functional annotation of the large datasets produced by the Gene Sequence and Expression Laboratories. Bioinformaticians use refined workflows and computational approaches to fully integrate data from orthogonal technologies, develop improved metadata standards for application in digestive disease datasets at multiple levels of granularity, and provide new solutions for data access and exploration. Bioinformaticians personalize analytical pipelines to meet the investigators’ needs using powerful computing cluster environment and in a secured fashion by industry-quality firewall systems. And in the Fourth Aim to “enable the validation of gene expression at the protein level,” the Core offers investigators the opportunity to validate at the protein level the expression of gene and gene groups using complementary assays in body fluids, cell surface, and intracellular environment. The service portfolio managed by the Gene Analysis Core has been highly subscribed by DHC investigators and has been linked to a high scientific output in peer-reviewed original publications that are relevant to digestive disease.