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ENCODE Enc yclopedia o f D NA E lements. GENCODE Gene Finding Workshop February 7, 2005 Sanger Institute, Hinxton UK. Challenge. Compile a comprehensive encyclopedia of all of the sequence features in the human genome. Approach:
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ENCODEEncyclopedia of DNA Elements GENCODE Gene Finding Workshop February 7, 2005 Sanger Institute, Hinxton UK
Challenge Compile a comprehensive encyclopedia of all of the sequence features in the human genome. Approach: • Apply lessons learned from the success of the Human Genome Project • Start with well-defined pilot project • Develop and test high-throughput technologies
Phased Approach to ENCODE Phase 1: Pilot Project using Existing Technologies Research Consortium focused on identification of known functional elements with existing technologies Phase 2: Technology Development Focus on less well-studied functional elements and novel technologies Phase 3:Expanded Pilot Project Solicit new applications (Currently being planned)
ENCODE Consortium Goals • Test and compare existing and new methods for exhaustive identification and verification of functional sequence elements • Identify gaps in ability to annotate genome • Set a clear path for scaling this effort to the entire human genome
ENCODE Consortium Goals • Iterative cycle of computational predictions and experimental validations • Improve computational methods of identifying functional elements • Integration of both experimental and computational data to expand the annotation of the human genome
Selection of ENCODE Targets • 30 Mb (1%) of the human genome • Pick multiple regions to sample different genome landscapes • Half are selected manually - targets with a lot of baseline information • Half are selected randomly • Select targets with different gene density and conservation
r112 r221 r121 r231 r113 m002 r212 5 4 3 r331 r131 1 2 m011 m010 m009 r334 r223 r123 r332 r114 m013 r323 m012 m001 m003 r222 r321 m014 r312 r232 11 8 9 10 7 12 6 m008 r111 r211 r213 r233 r311 r313 r122 r322 18 16 17 r132 15 14 13 r333 m004 m005 m007 r133 r324 20 21 22 Y 19 m006 X
DNase Hypersensitive Sites DNA Replication Epigenetic Genes and Transcripts Cis-regulatory elements (promoters, transcription factor binding sites) Long-range regulatory elements (enhancers, repressors/silencers, insulators)
ENCODE Future Planning • What technologies can efficiently scale to the whole genome? • Are there “Gold Standards” to determine specificity and sensitivity? • If not, what is a measure for “completeness” • Model Organism ENCODE • Drosophila, Worm, Yeast
Project Description Paper Published in 2004 The ENCODE (ENCylopedia of DNA Elements) Project. The ENCODE Consortium. Science, Vol. 306, 636-640, 22 October 2004