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Our research involves the application of next-generation sequencing for translational research projects including gene discovery, diagnostic testing, genomic medicine in healthy adults, and newborn screening. We use a combination of wet-lab and computational approaches, and have several on-going studies in gene discovery, diagnostic testing, genomic medicine in healthy adults, and newborn screening. We participate in 4 large NIH U01 initiatives—NCGENES, ClinGen, GENESCREEN, and NCNEXUS. We collaborate extensively with the Reniassance Computing Institute and help administer a large genomic data repository. We also collaborate with many other groups at UNC interested in performing exome sequencing and assist in the storage and analysis of their whole exome/whole genome data. Through all of these collaborations, we assist in sequencing hundreds of patient genomes per year