Sequencing the Human Exome: Approaches, Methodologies, and Challenges Event Date: October 16, 2009 12:00 p.m. Eastern Time; 9:00 a.m. Pacific Time; 4 p.m. GMT Brought to you by the Science/AAAS Business Office     Real Player   Real Media Video (56k/150k)   Windows Media Player   Windows Media Video (56k/150k)     Sequence capture technology reduces the genome complexity by enriching a selective portion of the genome, targeting anywhere from 100 kb to 30 Mb of the human genome. When coupled to next generation sequencing, this technology readily facilitates the resequencing of candidate genes and regions previously identified from genomewide association studies. The ultimate goal is to identify possible genetic variants that can be further tested and validated as potentially disease-causing mutations. These technologies are particularly applicable to Mendelian disease studies, detection of genetic variants in cancer models, and population studies. In this webinar, the panelists will present their own data, defining the performance criteria necessary for using sequence capture in combination with next generation sequencing, such as percent of target sequence detected, uniformity of coverage, and depth of coverage for variants. During this webinar, you will: Learn about detailed experimental designs Gain insight into important performance criteria to evaluate these new technologies Review recent projects completed by experts in the field Have your questions answered live!   Speakers: Michael Dean, Ph.D. Center for Cancer Research, NIH Bethesda, MD Dr. Michael Dean obtained his Ph.D. from the Biochemistry Department at the Boston University School of Medicine. He performed his postdoctoral studies at the National Cancer Institute at the NIH, working on the MET oncogene and the cystic fibrosis gene. Dr. Dean is currently the Deputy Director of the Cancer and Inflammation Program and the Chief of the Human Genetics Section at the National Cancer Institute’s Frederick, Maryland, campus. His work focuses on the analysis of cancer as a complex disease including genome wide association studies and follow-up of associated loci, and next generation sequencing of tumors and cell lines. He is also collaborating with the Unidad Nacional Oncologia Pediatrica in Guatemala on the analysis of retinoblastoma and other childhood cancers. Dr. Dean is also an adjunct faculty member at Hood College in Maryland. Stephan Züchner, M.D. Miami Institute for Human Genomics Miami, FL Stephan Züchner, M.D., obtained his medical degree from the Medical School at the University of Aachen, Germany, where he also did a residency in Neurology and Neuropathology. Dr. Züchner then completed his postdoctoral studies at Duke University Medical Center in Durham, North Carolina, where he subsequently achieved Assistant Professor status. In 2007, Dr. Züchner moved to the University of Miami as one of the founding faculty for the new Miami Institute for Human Genomics. He is currently an Associate Professor in the Departments of Human Genetics and Neurology and Director of the MIHG Center for Human Molecular Genomics. Dr. Züchner is a neurologist and molecular biologist with extensive experience in the mapping of Mendelian diseases and cloning of causal genes. His current work focuses on molecular neurogenetics and psychiatric genetics. Pauline C. Ng, Ph.D. J Craig Venter Institute San Diego, CA Dr. Pauline Ng received her Bachelor's degree in biology from the California Institute of Technology in Pasadena and Ph.D. in bioengineering from University of Washington in Seattle. She is currently an Assistant Professor in the Human Genomic Medicine group at the J. Craig Venter Institute where she has characterized the complete set of coding variation from an individual’s exome. Dr. Ng also continues to develop the prediction algorithm, SIFT, which predicts if an amino acid substitution affects protein function and has been widely applied to nonsynonymous polymorphisms. She also has extensive expertise in next generation sequencing technologies and has performed a comparative analysis between the major platforms.   Moderator: Sean Sanders, Ph.D., Commercial Editor, Science/AAAS Sean Sanders did his undergraduate training at the University of Cape Town, South Africa, and his Ph.D. at the University of Cambridge, UK, supported by the Wellcome Trust. Following postdoctoral training at the National Institutes of Health and Georgetown University, Dr. Sanders joined TranXenoGen, a startup biotechnology company in Massachusetts working on avian transgenics. Pursuing his parallel passion for writing and editing, Dr. Sanders joined BioTechniques as an editor, before joining Science/AAAS in 2006. Currently Dr. Sanders is the Worldwide Commercial Editor for the journal Science and Program Director for Outreach.   ___________________________________________________________________________________________________   For the best experience we recommend you use Internet Explorer 6 (IE6) or higher on a Windows-based PC to view this webinar. Please ensure that you are using a computer with a stable internet connection and good bandwidth. To ensure the best possible performance of the webinar we recommend that you avoid using a dial-up connection. Note: please confirm the start time of the webinar in your time zone. A free time zone converter is available at www.timeanddate.com/worldclock/converter.html   Test Your System   Help   Download Real Player   Download Windows Media Player