PPT-Personalized genomics

Goal Input Genomic sequence WGS from family Pedigree amp affectedness Disease standard ontology needed Output Genesmutations relevant to the disease Read Mapping BAM prep GRCh37 k. selection, . regulation, epigenomics, . disease. Manolis Kellis. MIT Computer Science & Artificial Intelligence Laboratory. Broad Institute of MIT and Harvard. Recombination breakpoints. Family Inheritance. NGS analysis. Ravi Madduri. madduri@anl.gov. Joint work with Paul . Davé. , Lukasz . Lacinski. , Alex Rodriguez, . Dinanath. . Sulakhe. , Ryan Chard and Ian Foster. Globus Genomics is developed, operated, and supported by researchers, developers, and . Xian . Jin. , Qin Zheng and Lily Sun. . ICISO 2015, Toulouse . 2015-03-20. 1. Authors. PhD. Candidate of Shanghai University of Finance and . Ecnomics. Major in Management Science and Engineering. MBA and Software Engineering . Medicine . National survey of U.S. . adults. May 2018. Survey conducted by. Survey conducted . for. Table of Contents. Background. 3. Objectives and Methodology. 4. Executive Summary. 5. Key. Findings. selection, . regulation, epigenomics, . disease. Manolis Kellis. MIT Computer Science & Artificial Intelligence Laboratory. Broad Institute of MIT and Harvard. Goal: A systems-level understanding of genomes and gene regulation:. Overview and Capabilities: . . High Throughput Sequencing Facility (HTSG). Functional Genomics M. ammalian Genotyping Core (MGC). Corbin Jones. Faculty Director. Piotr . Meiczkowski . Technologies . Leming. Zhou, PhD. Assistant Professor. Department of Health Information Management . School of Health and Rehabilitation . Sciences. University of Pittsburgh. Human Genome Project. 1990 – 2003. Goals:. What is Structural Genomics ?. Is the process of high-. throughtput. determination of 3-D structures of Biological macromolecules. What is the Goal of Structural Genomics ?. Provision of enough structural templates to facilitate homology modeling of most proteins.. “. User facility. providing high-throughput DNA sequencing & analysis in support of DOE missions in alternative . energy. , . carbon cycling . & . bioremediation. .”. Opened in 1999. ~240 UC Employees. Genomics and Society Nature (2014) “ …disorders not readily explained by standard tests can sometimes be diagnosed through genome sequencing and analysis.” The Origin of “Genomics& . Carl Pray. 1. Can advances in biology transform Asian agriculture? Challenges are large. Food production . Productivity growth . Crises – . Biological -Africa Swine Fever, corn stalk borer, fall armyworm, wheat rust. What . is . Functional. . Genomics?. RNA . Transcription/Gene. . Expression. Measuring Gene. . Expression. Microarrays. High-throughput. . Sequencing. Transcriptional. . Regulation. Transcription. Ian Green. Clinical Engagement and Education Business Manager. Strategy. Work undertaken by Genome One (part of the . Garvan. Institute). Work underway. Completion date . –. 17. th. , March 2017. Ravi Madduri. madduri@anl.gov. Joint work with Paul . Davé. , Lukasz . Lacinski. , Alex Rodriguez, . Dinanath. . Sulakhe. , Ryan Chard and Ian Foster. Globus Genomics is developed, operated, and supported by researchers, developers, and .