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Wednesday, April 23
7:30-8:15am Conference Registration and Morning Coffee
TECH EXPO
Explore available next-generation screening platforms as presented by sequencing leaders. An unparalleled opportunity to compare and contrast these next-generation sequencing platforms to best suit your research needs.
8:15 Chairperson’s Opening Remarks
Sponsored Seminars hosted by:
| 8:30 True Single Molecule Sequencing: Current Research and Our Path to the $1000 Genome |

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Patrice M. Milos, Ph.D., Vice President and Chief Scientific Officer, Helicos
Helicos has developed a novel genetic analysis platform to efficiently and accurately determine the direct sequence of individual DNA molecules. Simplicity in sample preparation, development of novel surfaces, chemistry to enable incorporation of single nucleotides into DNA strands and finally the visualization of fluorophore addition to monitor real-time sequencing by synthesis has been achieved. This platform will provide the opportunity for researchers to interrogate the genome on a new scale and provides a path to sequence individual genomes at a cost to make integration of genome knowledge and healthcare possible. To demonstrate the current power of the HelicosTM platform we will discuss the use of the True Single Molecule Sequencing Technology (tSMSTM) for candidate gene resequencing, RNA measurements and miRNA analyses. |
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9:15 Illuminating the Genome
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Abizar Lakdawalla, Ph.D., Senior Product Manager, Sequencing Applications, Illumina
The Illumina Genome Analyzer, based on the Solexa massively parallel sequencing-by-synthesis technology, is being used for a broad set of functional genomics applications including chromosomal re-arrangements, to single nucleotide variations, variation in DNA
methylation, whole transcriptome analysis, small RNA analysis, digital gene expression, DNA-protein, and DNA-RNA interaction analysis. Details on the current state of the technology as well as a summary of chromosomal resequencing studies, whole genome epigenetic changes, tissue-specific mRNA splice variatns and 5’-UTRs, microRNAs and DNA-protein interactions studies will be presented.
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| 10:00 454/Roche |

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10:45 Networking Coffee Break, Poster and Exhibit Viewing
11:30 Interactive Panel Discussion: The $1000 Genome Threshold
Moderator: Kevin Davies, Ph.D., Editor-in-Chief, BioIT World
The past 30 months have witnessed remarkable advances in next-generation sequencing throughput, accuracy, and results. More than 200 instruments have now been deployed in organizations around the world, and the range of questions and applications being addressed continues to astound. Together with rapid advances in consumer genomics, we are fast approaching the Holy Grail of the $1000 human genome sequence. This panel discussion will review the most recent technical advances and scientific applications of next-generation sequencing, as well as consider the practical, medical and ethical issues surrounding personalized genomics.
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12:30pm Luncheon Technology Workshop hosted by |

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Your Sequencing Machine Just Completed its Run. Now what?
Powerful “information throughput” enabling timely upstream analysis
Ron Ranauro, President and CEO, GenomeQuest, Inc.
With next-generation sequencing machines churning out data at a rate of 200 million to 1 billion bases per run, researchers are left with the daunting task of making sense of the data. In this workshop we will discuss a breakthrough technology that delivers compute power, algorithms, data management, and results analysis to manage and mine huge volumes of data, directly to your desktop. |
DATA ANALYSIS – WHAT DOES IT TAKE?
2:00 Chairperson’s Remarks
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Kick-Off Keynote Presentation
2:10 Biomedical Analysis and Applications of Large-Scale DNA Sequence Data
Nicholas J. Schork, Ph.D., Director of Research, Scripps Genomic Medicine and Professor, Molecular and Experimental Medicine, The Scripps Research Institute
This talk will focus on the analysis and potential applications of data generated by next-generation sequencing technologies, with a focus on two main themes: the analysis of individual DNA sequences in human association studies (including cancer and host-pathogen interaction studies) and an assessment of the unique nature of the human diplome. |
3:00 SolexaTools: An Open Source Sequencing Framework
Brian O’Connor, Ph.D., Post-Doctorate, Human Genetics, University of California – Los Angeles
The SolexaTools project was started to meet the computation infrastructure needs of scientists using the Solexa massively parallel sequencing platform. This open source project provides two key features for the community. First, a LIMS system for tracking sequencing runs (SolexaLIMS) and, second, a pipeline framework for organizing the analysis of data (SolexaPipeline). These tools allow scientists to automate most of the processing and report generation required by Solexa data. The software is freely available and has been written to allow for customization and community driven development. Both are important given the inherent flexibility of this new sequencing technology.
3:30 Genomics of System-Specific Model Species
Matthew Hudson, Ph.D., Assistant Professor, Crop Sciences, University of Illinois
Next-generation sequencing can be used to produce low-cost genomic resources for “system specific” eukaryotic models: plants and animals which are specifically suited to a particular scientific question. While complete genome sequencing using short reads alone is not yet feasible for higher eukaryotes, current technology can provide an aid to whole-genome sequencing for smaller genomes, and a route to gene-space sequencing of larger genomes. New and adapted sequence analysis methods are necessary to facilitate these genomics projects. Results will be presented on data analysis methods and biological insights from partial genome and transcriptome sequencing using short-read technology.
4:00 Networking Refreshment Break, Poster and Exhibit Viewing
NEXT-NEXT GENERATION SEQUENCING
4:30 SMRT (Single Molecule Real-Time) DNA Sequencing - a Transformative Method for
High-Throughput DNA Sequencing
Stephen Turner, Ph.D., Chief Scientific Officer, Research and Development, Pacific Biosciences
SMRT (Single Molecule Real-Time) DNA sequencing is a novel, high-throughput method for sequencing DNA. Though the majority of DNA sequence data collected to-date has been acquired through the use of DNA polymerase enzymes, the methods used squander the inherent power of the enzyme as a sequencing engine. Viewed as a sequencing engine, DNA polymerases can ‘read’ up to 1000 bases per second per molecule, do so over DNA lengths of 100,000 bases or more, replicate with high fidelity and consume only one molecule per base ‘sequenced.’ To harness this power, Pacific Biosciences has developed a method of eavesdropping on template-directed synthesis by DNA polymerase in real-time. We show proof-of-concept data that indicates this will be a high-throughput sequencing technology with long readlengths, limited ultimately by the processivity of the enzyme and fast cycle times dictated by the incorporation rate of the enzyme.
4:55 Base Pair Discrimination via Transmission Electron Microscope
William Glover, President, R&D, ZS Genetics
ZS Genetics (“ZSG”) is developing a Third Generation Sequencing platform to read DNA base pairs directly with a specialized Transmission Electron Microscope. Nucleotides modified with single heavy atoms provide a signal sufficient for discrimination by a sub-angstrom-resolution TEM. dsDNA, initially in the 8 kb to 12 kb range, will be linearized on a thin-membrane substrate. Both strands will be labeled and independently resolved, providing built-in error checking. Speeds for ZSG’s Beta system at the end of 2008 will be comparable to next-generation sequencing technologies and increase thereafter via automation and customization of TEM components.
5:20 Speaker to be Determined
5:45 Networking Reception, Poster and Exhibit Viewing
6:45 End of Day
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