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The Impact of CNVs on Genetic Diagnostic Testing 

Agilent Technologies

Fluidigm

RosettaBiosoftware

 

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TUESDAY, MARCH 17

7:30 am  Breakfast Presentation (Sponsorship Available)

8:15  Java and Jive Discussion Groups
Grab a cup of coffee and join a facilitated discussion group focused around specific themes.  This unique session allows conference participants to exchange ideas, experiences, and develop future collaborations around a focused topic.

9:00  Chairperson’s Remarks
Evan Eichler, Ph.D., Professor, Genome Sciences, University of Washington

KEYNOTE PRESENTATION
9:05  Array CGH as a Clinical Tool for Breast Cancer: FISHing the Whole Genome for Copy Number Changes

Shelly Gunn
Shelly Gunn, M.D., Ph.D., Medical Director, Combimatrix Molecular Diagnostics, Inc.
Treatment decisions for breast cancer patients currently rely on a combination of clinical pathologic risk factors and determination of HER2 gene copy number. The College of American Pathologists has recommended that HER2 be evaluated in all newly diagnosed breast cancer cases because amplification is an important prognostic marker for aggressive tumors which should respond to the drug trastuzumab (Herceptin). Current methodologies for determining HER2 gene status include FISH and immunohistochemical staining for the HER2 protein. However, these methods are inherently subjective, locus specific and problematic due to multiple preanalytic variables. Array CGH provides an objective, accurate, and robust alternative for determination of HER2 gene copy number status with simultaneous evaluation of the whole tumor genome in a single experiment.

 

DIAGNOSTICS – UTILIZING FUNCTIONALLY RELEVANT CNVs 

 

9:50  The Impact of CNVs on Genetic Diagnostic Testing
Charles Lee, Ph.D., Associate Professor, Pathology, Brigham and Women’s Hospital; Director, Cytogenetics, Harvard Cancer Center
Investigations over the past four years clearly demonstrate that the human genome harbors thousands of structural genomic variants. The largest category of currently-known structural genomic variants are copy number variants (CNVs), where segments of DNA sequences are either lost or gained within individual genomes.  The existence of CNVs in healthy individuals have made it a challenge to accurately interpret “pathogenic” CNVs detected in genetic diagnostic testing.  Strategies for determining “CNV pathogenicity” and new applications for CNVs in pathology will be presented.

10:20  Coffee Break, Poster and Exhibit Viewing

11:00  The Clinical Use of Microarray Analysis in the Cytogenetics Laboratory
Lisa G. Shaffer, Ph.D., FACMG, President and Chief Executive Officer, Signature Genomic Laboratories 
Microarray analysis has disrupted the traditional use of banding and FISH for the analysis of chromosomes for the detection of cytogenetic abnormalities. The wide-spread use of this new technology has uncovered genomic changes of unclear clinical significance, benign CNVs and clinically relevant cytogenetic abnormalities.  This presentation will review the experience in over 30,000 clinical cases and discuss the approaches to understanding the genomic changes seen in the laboratory.

11:30  Establishing Clinical Array-based CNV Analysis in a CLIA/CAp Environment
Ulrich Broeckel, M.D., Associate Professor, Pediatrics, Medical College of Wisconsin
Array based CNV platforms now offer an unprecedented platform for CNV analysis. With the growing knowledge about the clinical relevance of CNV, there is a substantial demand for CNV analysis in the clinical diagnostics setting. In this presentation we will describe our experience with the Affymetrix 6.0 SNP array to establish this platform for CLIA certified testing and discuss issues related to quality control and data analysis.

12:00  Close of Session

12:15 Luncheon Presentation (Sponsorship Available) or Lunch on Your Own

SEQUENCING TECH EXPO

Next-Generation Sequencing is alive, thriving, and driving discovery. As costs come down and ease increases, these new, massively parallel high-throughput sequencing platforms are infiltrating multiple aspects of traditional biological research. However, each next-generation sequencing platform best lends itself to specific sequencing goals. This Tech Expo showcases the next-generation sequencing platforms to help you make informed purchasing decisions. Sponsored Seminars Hosted by:


2:00 Chairperson’s Remarks

Kevin Davies, Ph.D., Editor-in-Chief, BioIT World

2:05 Applied Biosystems logoThe SOLiD™ 3 System - Taking Next-Generation Sequencing to the Next Level 

Michael Rhodes, Ph.D.,  Product Application Senior Manager, Genetic Analysis, High Throughput Discovery, Applied Biosystems

Michael Rhodes, Ph.D., Product Applications Senior Manager, Genetic Analysis, High Throughput Discovery, Applied Biosystems
The new SOLiD™ 3 System achieves new milestones in throughput in excess of 20 Gb of mate paired sequence data from a single run and 30-40 Gb of demonstrated throughput in Applied Biosystems R&D labs. Maintaining high accuracy, improvements in read length and unique mate-pair library strategies, the news system enables expanding applications from whole genome resequencing and SNP discovery to miRNA profiling. This presentation will review various applications that the new system capabilities enable and discuss an example of whole genome transcript profiling in single cells and whole genome resequencing for SNP and structural rearrangement discovery.


Helicos logo2:35 Enabling True Biology with Helicos™ Single Molecule Sequencing

Patrice M. Milos, Ph.D., VP & CSO, Helicos BioSciences Corporation

Helicos True Single Molecule Sequencing (tSMS)™ provides a unique view of genome biology through the direct sequencing of cellular nucleic acids in an unbiased manner providing both quantitation and sequence information. Using a simple DNA sample preparation which requires no ligation or PCR amplification genomic DNA is sheared, tailed with polyA and readied for hybridization to a flow cell surface containing oligo dT for initiating the sequencing by synthesis reactions. To demonstrate the fidelity and scale of the HelicosTM Genetic Analysis System three bacterial genomes were sequenced, each of distinctly different genomic contents in single flow cell channels of the available 50 channels. We have extended our research to include a variety of genomic targets including candidate gene regions, yeast and C. elegans, all with similar accuracy and coverage. The ability of our single molecule sequencing platform to provide quantitative measurements of genome biology include research efforts in small RNA measurements, assessment of copy number variation of human samples and a simple method for quantitative assessment of the transcriptome, digital gene expression – all without the requirement of ligation or amplification – a hallmark for measuring the biology of cells.


3:05 Refreshment Break, Poster and Exhibit Viewing


Illumina logo3:30 The Illumina Genome Analyzer - Transforming Systems Biology

Abizar Lakdawalla, Ph.D., Senior Product Manager, Sequencing
Applications, Illumina

The Genome Analyzer next-generation sequencing system has transformed our understanding of genome variations, epigenomics, transcriptomics, and the interaction of proteins with DNA and RNA. A comprehensive description of the Genome Analyzer system will be presented with effective approaches to address broad systems biology questions. Strategies and tools derived from sequencing multiple human genomes, large numbers of transcriptomes, and extensive ChIP-Seq samples will be described to maximize the data and sample throughput with the simple and easy-to-use Genome Analyzer workflow.


Roche 454 logo4:15 Moving Next Generation Sequencing into the Clinical Research Market
Timothy Harkins, Ph.D., Director, 454 Sequencing Roche Applied Science, Roche, Inc
The Genome Sequencer FLX is now generating the longest reads within the next gen market with over 1 million unique sequencing reads that are 400 to 500 base-pairs in length. With a fast instrument run time of 10 hours and the ability to quickly analyze the sequencing data, projects involving 1,000’s of samples are able to be processed readily. The projects that will be presented include:
1) Sequencing HIV to detect low frequency drug resistant mutations
2) HLA sequencing – the most known polymorphic regions within the human genome
3) Using NimbleGen Sequence-Capture arrays to sequence the whole human exome
4) Detecting novel pathogens in complex environmental samples

4:45 Interactive Panel Discussion with Sequencing Leaders

Moderator; Kevin Davies, Ph.D., Editor-in-Chief, BioIT World

The term “next-generation” has become the“now generation.” As the genome unit price of these next-gen platforms continues to tumble, excitement is growing about the scientific and commercial potential of third-generation sequencing systems, from single-molecule methods to nanopores to ‘nanoball’ service models. Here, leaders from established and emerging next-gen platform providers trade insights on the latest scientific and technological advances, and answer your questions.xplore available next generation screening platforms presented by sequencing leaders. An unparalleled opportunity to compare and contrast next generation sequencing platforms that best suit your research needs.

5:30  Close of Meeting 

Scientific Advisory Committee
Evan Eichler, Ph.D., University of Washington
Charles Lee, Ph.D., Brigham and Women’s Hospital
Steven W. Scherer, Ph.D., Hospital for Sick Children