Comparative Genomics and Bioinformatics Core

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Comparative Genomics And Bioinformatics Core SUMMARY/ABSTRACT The Comparative Genomics and Bioinformatics (CGB) Core will provide state-of-the-art comparative genomic and bioinformatic analyses, and data warehousing to support the overarching goal of the P01 to improve our understanding of endometriosis disease pathophysiology in women and provide a foundation for improving treatment. The scientific premise that evolutionarily conserved genomic features inform function is well- established. An innovative aspect of the Core is the use of comparative genomics in humans, monkeys and mice, including transcriptomics and epigenomics, to identify evolutionarily conserved pathways central to endometriosis pathophysiology. The CGB Core has 4 Specific Aims to support the overall goals of the P01: 1) Identify transcriptional pathways and networks associated with disease status in women (Projects 1&2), mice (Project 2), and rhesus macaques (Project 3); 2) Integrate transcriptome data with epigenome (chromatin) and metabolome data generated in the Projects to prioritize pathways and causal networks most likely to have regulatory roles in disease status; 3) Identify disease-associated genes, pathways, and causal networks that are conserved among the three species; and 4) Provide a data warehouse for organizing and sharing data generated in the CGB Core and the Projects, and comply with NIH data sharing requirements. The Core Leader Dr. Cox has extensive comparative genomic expertise that includes studies with marsupials, rodents, nonhuman primates, and humans. All methodologies, analysis tools, and data management practices proposed for the Core are routinely used and well-established in the Core Leader’s laboratory, supporting success of the CGB Core to achieve these aims. Successful completion of these aims will reveal molecular pathways and networks associated with disease status for each species and, by identifying those conserved among humans, mice and rhesus, will nominate regulators that are central to the disease process. Achieving these goals will contribute to a better understanding of the disease process which will inform diagnosis and treatment for long-lasting improvement in the lives of women suffering from endometriosis.