The BCM Human Genome Sequencing Center (HGSC) has developed a large scale, flexible DNA sequencing resource to solve major problems in human genetics and support clinical care. Technical excellence and innovation has allowed the use of multiple sequence platforms and the adaptation of the best sample resources and appropriate data models to match project requirements. In the first 18 months of the proposed timeline at least 1 petabase of DNA sequence will be generated, and 90% of capacity will be dedicated to cancer and human genetic studies. The remainder will be applied to comparative and metagenomics. All of this is made possible because of the HGSC's integrated high throughput data production pipeline that spans sample procurement and processing, sequence production, informatics, data analysis, and dissemination. The modular nature of this pipeline allows us to meet, or even exceed production expectations while at the same time provides flexibility to serve the diverse (and growing) needs of the genomics and biomedical research community. Overall one-half of the capacity will be dedicated to ongoing and emerging NHGRI programs with the remainder to a series of 11 innovative Center Initiated Projects (CIPs). The CIPs include solving the basis of selected common chronic human diseases, piloting a newborn screen and a national population-based health care model, deeply sampling human genetic diversity, identifying critical somatic mutations in rare and familiar cancers and the role of epigenomics in cancer therapy. For understanding common disease, we will develop future CIPs relevant to emerging priorities in human health such as Alzheimer?s disease. We will also provide a complete genome analysis of all the laboratory rhesus macaques in the USA, as well as study their microbiome. The virome in health and disease will be characterized and an educational program, based upon personal genome sequences will be delivered. The overall objectives, specific aims, and CIPs embodied in this proposal will transform biology through genomics and lead to a new phase of clinical applications.
| Poynton, Helen C; Hasenbein, Simone; Benoit, Joshua B et al. (2018) The Toxicogenome of Hyalella azteca: A Model for Sediment Ecotoxicology and Evolutionary Toxicology. Environ Sci Technol 52:6009-6022 |
| Malta, Tathiane M; Sokolov, Artem; Gentles, Andrew J et al. (2018) Machine Learning Identifies Stemness Features Associated with Oncogenic Dedifferentiation. Cell 173:338-354.e15 |
| Peng, Xinxin; Chen, Zhongyuan; Farshidfar, Farshad et al. (2018) Molecular Characterization and Clinical Relevance of Metabolic Expression Subtypes in Human Cancers. Cell Rep 23:255-269.e4 |
| Palesch, David; Bosinger, Steven E; Tharp, Gregory K et al. (2018) Sooty mangabey genome sequence provides insight into AIDS resistance in a natural SIV host. Nature 553:77-81 |
| Huang, Kuan-Lin; Mashl, R Jay; Wu, Yige et al. (2018) Pathogenic Germline Variants in 10,389 Adult Cancers. Cell 173:355-370.e14 |
| Ellrott, Kyle; Bailey, Matthew H; Saksena, Gordon et al. (2018) Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines. Cell Syst 6:271-281.e7 |
| Lumley, Thomas; Brody, Jennifer; Peloso, Gina et al. (2018) FastSKAT: Sequence kernel association tests for very large sets of markers. Genet Epidemiol 42:516-527 |
| Campbell, Joshua D; Yau, Christina; Bowlby, Reanne et al. (2018) Genomic, Pathway Network, and Immunologic Features Distinguishing Squamous Carcinomas. Cell Rep 23:194-212.e6 |
| Gao, Qingsong; Liang, Wen-Wei; Foltz, Steven M et al. (2018) Driver Fusions and Their Implications in the Development and Treatment of Human Cancers. Cell Rep 23:227-238.e3 |
| Thorsson, Vésteinn; Gibbs, David L; Brown, Scott D et al. (2018) The Immune Landscape of Cancer. Immunity 48:812-830.e14 |
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