PPT-3D Genome Workshop - Overview of ENCODE

Dan Gilchrist National Human Genome Research Institute October 18 2016 The ENCODE Project 3D Data Access Through the ENCODE Portal The ENCODE Encyclopedia Tools for Investigating Genetic Variants. 02-223 Personalized Medicine:. Understanding Your Own Genome. Fall 2014. Overview. Course website: . http://www.cs.cmu.edu/~sssykim/teaching/f14/f14.html. All lab reports and term paper should be submitted to blackboard by midnight on the due . www.plosbiology.org A User’s Guide to ENCODE &#x/MCI; 1 ;&#x/MCI; 1 ;AuthorSummarygoals, seven ENCODE Data Production Centers encompassing 27 institutions have been organized to focus o The Human Genome project sequenced “the human genome. ”. “the human genome” that we have labeled as such doesn’t actually . exist. What we call the human genome sequence is really just a . reference. February . 27 2013. Fundamental Goals. Improve comprehensiveness and accuracy of gene annotation. Define novel protein coding and . noncoding. gene products, including variants. Define . noncoding. regulatory elements, including both sequence and epigenetic features. integrated encyclopedia of DNA elements in the human . genome”. ENCODE Project Consortium. . Nature . 2012 Sep 6; 489:57-74.. Michael . M. Hoffman. University of Washington. 12 September 2012. Major results. 12/13/2013. Yao Fu. Gerstein lab. ‘Supervised’ enhancer prediction. Yip et al., . Genome Biology (2012). G. et . enhancer . list away to genes. DNase I. .... FAIRE. .... .... Gencode. genes. .... On the immortality of television sets: “function” in the human genome according to the evolution-free gospel of ENCODE. AKA:. why the ENCODE . project is full of it. by Matthew . Oberhardt. What is ENCODE?. The Human Genome project sequenced “the human genome. ”. “the human genome” that we have labeled as such doesn’t actually . exist. What we call the human genome sequence is really just a . reference. genomico. : implicaciones del proyecto ENCODE. 1. Rory Johnson. Bioinformatics and Genomics. Centre for Genomic Regulation. AEEH. 21 / 2 / 14. This talk:. Our view of the human genome today thanks to ENCODE. God. Eve. Noah. Bible “Scientists”. “Junk DNA”. H. umans are estimated to have approximately 20,000 protein-coding genes which account for only about 1.5% of DNA in the human genome. The primary goal of the encode project is to determine the role of the remaining component of the genome, much of which was traditionally regarded as "junk" (i.e. DNA that is not [used to make protein]).. (via UCSC Genome Browser). 02-223 Personalized Medicine:. Understanding Your Own Genome. Fall 2014. DNA. Double-stranded helix made up of the nucleotides A, C, G, and T. Sugar in its nucleotides is . from NHGRI’s . Planning . Workshop on the Future Opportunities . for . Genome Sequencing . & Beyond. Mark Gerstein & Rick Myers. Recommendations related to genome function. . Part 1: Workshop summary (Mark). HHMI Logistics. . Name badges must be worn at all times. Restrooms. No roaming through the building. Questions? – Ask . us. Refreshments . (keep to the schedule). Technology. Live Streaming. The microphones. cyto. )genetics in a diagnostic setting. Basic technical aspects such as conventional karyotyping, methods and principles in fluorescence . in situ . hybridization (FISH), micro-array genomic profiling, QPCR, gene sequencing and new technologies such as Optical Genome Mapping and Whole Genome sequencing will be presented. In addition to the various laboratory techniques, there will be presentations on quality assessment, ISCN nomenclature and genetic aberrations in different types of leukemia. The program includes two panel discussions (for live audience only) in which participants will have the opportunity to ask questions and present their own patient cases..