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2013 Applying Next Generation Sequencing Brochure.pdf

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Cover<br />

Conference-at-a-Glance<br />

Short Courses/Plenary Keynote<br />

<strong>Sequencing</strong> Strategies for Success<br />

Final Agenda<br />

August 19-21, <strong>2013</strong> | Omni Providence Hotel | Providence, RI<br />

Cambridge Healthtech Institute’s<br />

NG X <strong>Applying</strong> <strong>Next</strong>-<strong>Generation</strong><br />

<strong>Sequencing</strong><br />

Dynamics of the Microbiome<br />

on Health and Disease<br />

Single-Cell <strong>Sequencing</strong><br />

<strong>Sequencing</strong> Data Analysis<br />

and Interpretation<br />

Sponsor & Exhibit Opportunities<br />

Hotel & Travel Information<br />

Registration Information<br />

Click Here to<br />

Register Online!<br />

Healthtech.com/<strong>Sequencing</strong><br />

Register by<br />

July 12<br />

and Save up<br />

to $250<br />

August 19-20<br />

August 20-21<br />

Eighth Annual<br />

<strong>Sequencing</strong> Strategies<br />

for Success<br />

Inaugural<br />

Dynamics of the Microbiome<br />

on Health and Disease<br />

Sixth Annual<br />

<strong>Sequencing</strong> Data Analysis<br />

and Interpretation<br />

Inaugural<br />

Single-Cell <strong>Sequencing</strong><br />

Cambridge Healthtech Institute<br />

250 First Avenue, Suite 300<br />

Needham, MA 02494<br />

www.healthtech.com<br />

Corporate Sponsors: Corporate Support Sponsor: Healthtech.com/<strong>Sequencing</strong>


Cover<br />

Conference-at-a-Glance<br />

Short Courses/Plenary Keynote<br />

<strong>Sequencing</strong> Strategies for Success<br />

Conference-at-a-Glance<br />

Dynamics of the Microbiome<br />

on Health and Disease<br />

Monday, August 19 morning<br />

Pre-Conference Short Courses*<br />

Single-Cell <strong>Sequencing</strong><br />

Monday, August 19 afternoon<br />

<strong>Sequencing</strong> Strategies for Success<br />

Dynamics of the Microbiome on Health<br />

and Disease<br />

<strong>Sequencing</strong> Data Analysis<br />

and Interpretation<br />

Monday, August 19 evening<br />

Evening Networking Reception<br />

Sponsor & Exhibit Opportunities<br />

Hotel & Travel Information<br />

Tuesday, August 20 morning<br />

<strong>Sequencing</strong> Strategies for Success<br />

Dynamics of the Microbiome on Health<br />

and Disease<br />

Registration Information<br />

Click Here to<br />

Register Online!<br />

Healthtech.com/<strong>Sequencing</strong><br />

Register by<br />

July 12<br />

and Save up<br />

to $250<br />

Tuesday, August 20 afternoon<br />

Tuesday, August 20 evening<br />

Wednesday, August 21 morning<br />

Wednesday, August 21 afternoon<br />

Single-Cell <strong>Sequencing</strong><br />

Single-Cell <strong>Sequencing</strong><br />

Plenary Keynote Session<br />

Dinner Short Courses*<br />

<strong>Sequencing</strong> Data Analysis and<br />

Interpretation<br />

<strong>Sequencing</strong> Data Analysis and<br />

Interpretation<br />

*Separate Registration Required<br />

Cambridge Healthtech Institute<br />

250 First Avenue, Suite 300<br />

Needham, MA 02494<br />

www.healthtech.com<br />

2


Cover<br />

Conference-at-a-Glance<br />

Short Courses/Plenary Keynote<br />

<strong>Sequencing</strong> Strategies for Success<br />

Dynamics of the Microbiome<br />

on Health and Disease<br />

Single-Cell <strong>Sequencing</strong><br />

Short Courses*<br />

Monday, August 19, 9:00 AM-12:00 pm<br />

SC1: Mapping Genomes in 3D<br />

Genomes are organized into 3-dimensional (3D) conformation in vivo through interactions<br />

with protein factors. In addition, DNA elements separated by long genomic distances are<br />

known to functionally interact. However, the details of these 3D structures and their role in<br />

gene transcription are largely unknown. This course is designed to provide an overview of<br />

sequencing strategies and analysis for probing the 3D structure of genomes.<br />

Jennifer E. Phillips-Cremins, Ph.D., Research Scientist, Job Dekker Laboratory, Program in<br />

Systems Biology, University of Massachusetts Medical School<br />

Yijun Ruan, Ph.D., Professor and Director for Genome Sciences, Jackson Laboratory for<br />

Genomic Medicine, The Jackson Laboratory<br />

Chia-Lin Wei, Ph.D., Group Lead, <strong>Sequencing</strong> Technologies, DOE Joint Genome Institute<br />

John-David Herlihy, Ph.D., Product Manager, Covaris, Inc.<br />

Alexander Seitz, M.D., CEO, Lexogen<br />

Michael Vishnevetsky, Ph.D., Vice President, WaferGen Biosystems, Inc.<br />

Tuesday, August 20, 6:00-9:00 pm<br />

SC3: Assembly and Alignment<br />

The most important first step in understanding next-generation sequencing data is the initial<br />

alignment or assembly. This course is designed to provide an overview of alignment and<br />

assembly algorithms, and comparisons for various applications.<br />

Gabe Rudy, Vice President, Product Development, Golden Helix and Author, “A Hitchhiker’s<br />

Guide to <strong>Next</strong> <strong>Generation</strong> <strong>Sequencing</strong>”<br />

<strong>Sequencing</strong> Data Analysis<br />

and Interpretation<br />

Sponsor & Exhibit Opportunities<br />

Hotel & Travel Information<br />

SC2: Sample Prep<br />

The emergence of next-generation sequencing technologies has revolutionized genomic<br />

research. This dramatic advancement, however, still involves complicated and labor-intensive<br />

workflows for upstream sample preparation, library construction, and template amplification.<br />

Instructors share their solutions to prepare for sequencing runs (including the specific<br />

requirements of sequencing platforms) by addressing customizability, compatibility, and<br />

cost effectiveness.<br />

Stacey Broomall, Biologist, R&T, U.S. Army, Edgewood Chemical Biological Center<br />

*Separate Registration Required<br />

Registration Information<br />

Plenary Keynote Session<br />

Click Here to<br />

Register Online!<br />

Healthtech.com/<strong>Sequencing</strong><br />

Register by<br />

July 12<br />

and Save up<br />

to $250<br />

Jeffery A. Schloss, Ph.D.,<br />

Director, Division of<br />

Genome Sciences, National<br />

Human Genome Research<br />

Institute, National Institutes<br />

of Health<br />

Dr. Schloss, in addition to his role at NIH,<br />

manages a grants program to develop<br />

technologies with which to sequence human<br />

genomes for $1,000 and coordinates the Centers<br />

of Excellence in Genomic Science program.<br />

He helped formulate and then led or served on<br />

interdisciplinary initiatives, including the NIH<br />

Bioengineering Consortium (BECON), the Trans-<br />

NIH Nano Task Force and the U.S. interagency<br />

National Nanotechnology Initiative.<br />

David Galas, Ph.D.,<br />

Principal Scientist,<br />

Pacific Northwest<br />

Diabetes<br />

Research Institute<br />

Before joining Pacific Northwest<br />

Diabetes Research Institute, Dr. Galas was<br />

Professor and Senior Vice President at the<br />

Institute for Systems Biology, Chancellor and<br />

Norris Professor of Applied Life Science at<br />

the Keck Graduate Institute and Professor and<br />

Chairman of Molecular Biology at the University<br />

of Southern California. Involved in translating<br />

science into diagnostics and therapeutics in<br />

several biotechnology companies, he researches<br />

human genetics of complex diseases and the<br />

development and application of new technologies<br />

and computational methods. He has served on<br />

the NRC Board on Life Science, among other<br />

groups, and is a lifetime Associate of the<br />

National Academy of Sciences.<br />

Sherman Weissman,<br />

Ph.D., Sterling Professor<br />

of Genetics and Medicine,<br />

Yale University School<br />

of Medicine<br />

Dr. Weissman has long<br />

contributed to studies of the molecular biology<br />

of higher cells, focusing on the globin and MHC<br />

loci. Early accomplishments include identification<br />

of sequences for transcription termination<br />

and initiation for E. coli RNA polymerase and<br />

the sequencing of the SV40 virus. His lab has<br />

worked extensively on cDNA technology and<br />

has been developing methods for genome-scale<br />

analysis of individual and small numbers of cells.<br />

Widely experienced in genomic technology, Dr.<br />

Weissman has co-directed the Yale Center for<br />

Genomics and Proteomics, worked to develop<br />

technical approaches that can be applied to<br />

large-scale analysis, and participated in the<br />

NIHGR ENCODE project since its inception.<br />

Yaniv Erlich, Ph.D.,<br />

Principal Investigator,<br />

Whitehead Fellow,<br />

Whitehead Institute for<br />

Biomedical Research<br />

Dr. Erlich earned his Ph.D.<br />

from the Watson School of Biological Sciences<br />

at Cold Spring Harbor Laboratory in 2010 and<br />

has received the Harold M. Weintraub Award,<br />

the IEEE/ACM-CS HPC Award, Goldberg-Lindsay<br />

Fellowship and Wolf Foundation Scholarship<br />

for Excellence in Exact Sciences. His research<br />

interests lie in computational human genetics<br />

and he was selected to be part of the 2010<br />

Tomorrow’s PIs team by Genome Technology.<br />

Cambridge Healthtech Institute<br />

250 First Avenue, Suite 300<br />

Needham, MA 02494<br />

www.healthtech.com<br />

3


Cover<br />

Conference-at-a-Glance<br />

Short Courses/Plenary Keynote<br />

<strong>Sequencing</strong> Strategies for Success<br />

Dynamics of the Microbiome<br />

on Health and Disease<br />

Single-Cell <strong>Sequencing</strong><br />

<strong>Sequencing</strong> Data Analysis<br />

and Interpretation<br />

Sponsor & Exhibit Opportunities<br />

Hotel & Travel Information<br />

Registration Information<br />

Click Here to<br />

Register Online!<br />

Healthtech.com/<strong>Sequencing</strong><br />

Register by<br />

July 12<br />

and Save up<br />

to $250<br />

Cambridge Healthtech Institute<br />

250 First Avenue, Suite 300<br />

Needham, MA 02494<br />

www.healthtech.com<br />

Eighth Annual<br />

August 19-20, <strong>2013</strong><br />

NG X <strong>Sequencing</strong> Strategies<br />

for Success Delivering Genomes at Exponential Rates<br />

As prices continue to drop and technology continues to improve, the purchase of a next-generation sequencing (NGS) platform is<br />

now a reality for most research laboratories. Once you have purchased a platform, however, how do you maximize the greatest<br />

potential for your investment? Realizing this potential requires efficient workflow strategies, careful experimental design,<br />

comprehensive targeted enrichment technologies, data analysis, management, and integration, in addition to maintaining your<br />

platform and people management all at maximum production. The central theme at CHI’s <strong>Sequencing</strong> Strategies for Success<br />

conference is efficient utilization of your NGS platform. Sessions will focus on common bottlenecks, case studies, real-world<br />

experiences and solutions from experienced NGS users.<br />

Monday, August 19<br />

8:30 am Short Course Registration and Morning Coffee<br />

9:00-12:00 pm Short Courses* (see page 3 for details)<br />

SC1: Mapping Genomes in 3D<br />

SC2: Sample Prep<br />

1:00 Main Conference Registration<br />

<strong>Sequencing</strong> Centers<br />

2:00 Chairperson’s Opening Remarks<br />

Lisa D. White, Ph.D., Associate Professor, Molecular and Human Genetics, Baylor College<br />

of Medicine<br />

2:10 <strong>Sequencing</strong>: Wonderful Adventure or Terrible Tragedy?<br />

Lisa D. White, Ph.D., Associate Professor, Molecular and Human Genetics, Baylor College<br />

of Medicine<br />

<strong>Applying</strong> next-generation sequencing (NGS) to clinical diagnostics promises to increase the<br />

rate of diagnoses, and as more correlations with phenotype are drawn, there is the promise of<br />

biomarker detection for prognosis and therapeutics. Taking NGS to the next step from a basic<br />

research procedure in a non-certified molecular lab to providing clinical sequencing requires a<br />

host of different procedures and a different laboratory culture than that found in basic research.<br />

The experience of launching NGS in a laboratory can run the gamut of wonderful adventure to<br />

terrible tragedy depending on preparedness, resources and support. This talk will cover some of<br />

the issues required to make the transition into an NGS CLIA-/CAP-certified laboratory.<br />

4<br />

2:40 Translational Science: From Basic Research to Genomic Medicine in an<br />

Academic Core Laboratory – Lessons Learned<br />

Nicholas P. Ambulos, Jr., Ph.D., Associate Professor, Microbiology and Immunology; Executive<br />

Director, School of Medicine Core Facilities; Director, Genomics Core Facility, University of<br />

Maryland School of Medicine<br />

<strong>Next</strong>-generation sequencing technology continues to improve and become more costeffective.<br />

Academic core laboratories have played a significant role in making this<br />

technology readily available to basic research laboratories. As a result, this technology<br />

is rapidly becoming the diagnostic tool of choice for many clinicians. The challenge we<br />

now face is how these academic core laboratories can provide comprehensive support to<br />

basic research, translational studies and clinical diagnostics and play a role in educating<br />

healthcare professionals.<br />

3:10 An Overview of the New York Genome Center<br />

Kevin V. Shianna, Ph.D., Senior Vice President, <strong>Sequencing</strong> Operations, New York<br />

Genome Center<br />

The NYGC initiated its sequencing operations in early 2012 and is building out to be one of<br />

the largest genome centers in North America. An overview of our experience to date will be<br />

presented along with future goals and challenges.<br />

3:40 Refreshment Break<br />

4:00 Combining Forces: Using All NGS Platforms to Advance Cancer<br />

Research at CGR<br />

Joseph Boland, Director, Research and Development, Cancer Genomics Research Laboratory,<br />

Stay Connected<br />

#NGx13<br />

>>


Cover<br />

Conference-at-a-Glance<br />

Short Courses/Plenary Keynote<br />

1000 verified). These are added to the sample when<br />

it is first received and can be detected with a simple PCR and sequencing from any stage of<br />

the process. Sequence reads derived from this spike-in are generated along with the standard<br />

sequencing run and are used to confirm sample identity and determine cross-contamination<br />

levels. Successful spiking directly into blood and tissue samples prior to DNA extraction has<br />

been demonstrated. This methodology has been implemented in our targeted clinical diagnostic<br />

pipeline and has also been successfully validated for whole-genome sequencing. It is a very<br />

inexpensive, flexible and platform-agnostic solution to a pressing need.<br />

10:05 Coffee Break in the Exhibit Hall with Poster Viewing<br />

11:00 Using Multiplex ChIP-Seq to Explore Centromere Evolution in<br />

Budding Yeast<br />

Philippe Lefrancois, Ph.D., Faculty of Medicine, University of Montreal<br />

>>


Cover<br />

Conference-at-a-Glance<br />

Short Courses/Plenary Keynote<br />

<strong>Sequencing</strong> Strategies for Success<br />

Dynamics of the Microbiome<br />

on Health and Disease<br />

Single-Cell <strong>Sequencing</strong><br />

<strong>Sequencing</strong> Data Analysis<br />

and Interpretation<br />

Sponsor & Exhibit Opportunities<br />

Hotel & Travel Information<br />

Registration Information<br />

Click Here to<br />

Register Online!<br />

Healthtech.com/<strong>Sequencing</strong><br />

Register by<br />

July 12<br />

and Save up<br />

to $250<br />


Cover<br />

Inaugural<br />

August 19-20, <strong>2013</strong><br />

Conference-at-a-Glance<br />

Short Courses/Plenary Keynote<br />

<strong>Sequencing</strong> Strategies for Success<br />

Dynamics of the Microbiome<br />

on Health and Disease<br />

Single-Cell <strong>Sequencing</strong><br />

<strong>Sequencing</strong> Data Analysis<br />

and Interpretation<br />

Sponsor & Exhibit Opportunities<br />

NG X Dynamics of the Microbiome<br />

on Health and Disease<br />

Communities, Composition, and Computation<br />

Advances in next-generation sequencing and computation have elucidated the impact of human genomic variation; however, the<br />

impact of this variation is largely unexplored in the human microbiome. Now clinical and environmental researchers have the<br />

high-resolution tools to explore the emergent science of microbial communities and the ecosystems they inhabit. CHI’s Dynamics<br />

of the Microbiome on Health and Disease conference focuses on understanding the role of the microbiome to offer new insights<br />

into disease processes and discovery of new therapeutic strategies.<br />

Monday, August 19<br />

8:30 am Short Course Registration and Morning Coffee<br />

database. Our results show several new potential bacterial agents that may be associated with<br />

different diseases with unknown etiologies. We are currently in the process of translating these<br />

methods to the clinic where these approaches can immediately impact human health.<br />

Hotel & Travel Information<br />

Registration Information<br />

Click Here to<br />

Register Online!<br />

Healthtech.com/<strong>Sequencing</strong><br />

Register by<br />

July 12<br />

and Save up<br />

to $250<br />

Cambridge Healthtech Institute<br />

250 First Avenue, Suite 300<br />

Needham, MA 02494<br />

www.healthtech.com<br />

9:00-12:00 pm Short Courses* (see page 3 for details)<br />

SC1: Mapping Genomes in 3D<br />

SC2: Sample Prep<br />

1:00 Main Conference Registration<br />

Communities and Composition<br />

2:00 Chairperson’s Opening Remarks<br />

Emma Allen-Vercoe, Ph.D., Assistant Professor, Molecular and Cellular Biology, University<br />

of Guelph<br />

»»<br />

Featured Presentation<br />

2:10 Metagenomic Platforms for Diagnostic, Microbial Composition and<br />

Etiologic Agent Discovery Applications<br />

Joseph Petrosino, Ph.D., Assistant Professor, Molecular Virology and Microbiology; Director,<br />

Alkek Center for Metagenomics and Microbiome Research, Baylor College of Medicine<br />

Metagenomics strategies for etiologic agent discovery and diagnostic detection have multiple<br />

advantages over past methods: they are highly sensitive; they are able to detect sub-PFU levels of<br />

viruses in clinical samples; there is no requirement for propagation of the suspected agent in the<br />

laboratory; and there is no need for prior knowledge of the agent to be detected. For suspected<br />

bacterial agents we are using 16S rRNA gene and whole-genome shotgun surveys of diverse human<br />

samples to identify potential agents and antibiotic resistance profiles. For suspected viral agents<br />

we are sequencing randomly primed cDNA libraries and querying these data against a custom viral<br />

7<br />

2:40 Archaea and Fungi of the Human Gut Microbiome<br />

Christian Hoffmann, Research Scientist, Frederic D. Bushman Laboratory, Microbiology,<br />

Perelman School of Medicine, University of Pennsylvania<br />

We investigate associations of diet with fungal and archaeal populations in the gut<br />

microbiome, as well as interdomain relationships between bacteria, archaea and fungi in a<br />

cohort of 96 individuals. Diet relationships with microbial taxa were investigated regarding<br />

usual and recent dietary intake.<br />

3:10 Microbial Ecosystems Therapeutics: A New Paradigm in Medicine?<br />

Emma Allen-Vercoe, Ph.D., Assistant Professor, Molecular and Cellular Biology, University<br />

of Guelph<br />

It is now clearly recognized that the human gut microbial ecosystem is a critical factor in the<br />

maintenance of host health, and that disturbances in this ecosystem, leading to enduring<br />

imbalance (dysbiosis) are associated with an ever increasing number of disorders (for example,<br />

IBD, IBS, diabetes, asthma, autism). With this in mind, is it possible to harness the microbial<br />

Alumni Discount SAVE 20%<br />

Cambridge Healthtech Institute (CHI) appreciates your past participation at our events. Through<br />

loyalty like yours, CHI has been able to build this event into a must-attend for senior-level<br />

decision makers. As a result of the great loyalty you have shown us, we are pleased to extend<br />

to you the exclusive opportunity to save an additional 20% off the registration rate. Just check<br />

off the box marked Alumni Discount on the registration form to receive the discount!<br />

>>


Cover<br />

Conference-at-a-Glance<br />

Short Courses/Plenary Keynote<br />

<strong>Sequencing</strong> Strategies for Success<br />

Dynamics of the Microbiome<br />

on Health and Disease<br />

Single-Cell <strong>Sequencing</strong><br />

<strong>Sequencing</strong> Data Analysis<br />

and Interpretation<br />

Sponsor & Exhibit Opportunities<br />

Hotel & Travel Information<br />

Registration Information<br />

Click Here to<br />

Register Online!<br />

Healthtech.com/<strong>Sequencing</strong><br />

Register by<br />

July 12<br />

and Save up<br />

to $250<br />

Cambridge Healthtech Institute<br />

250 First Avenue, Suite 300<br />

Needham, MA 02494<br />

www.healthtech.com<br />

>


Cover<br />

Conference-at-a-Glance<br />

Short Courses/Plenary Keynote<br />

<strong>Sequencing</strong> Strategies for Success<br />

Dynamics of the Microbiome<br />

on Health and Disease<br />

Single-Cell <strong>Sequencing</strong><br />

<strong>Sequencing</strong> Data Analysis<br />

and Interpretation<br />

Sponsor & Exhibit Opportunities<br />

Hotel & Travel Information<br />

Registration Information<br />

Click Here to<br />

Register Online!<br />

Healthtech.com/<strong>Sequencing</strong><br />

Register by<br />

July 12<br />

and Save up<br />

to $250<br />


Cover<br />

Conference-at-a-Glance<br />

Short Courses/Plenary Keynote<br />

<strong>Sequencing</strong> Strategies for Success<br />

Dynamics of the Microbiome<br />

on Health and Disease<br />

Single-Cell <strong>Sequencing</strong><br />

<strong>Sequencing</strong> Data Analysis<br />

and Interpretation<br />

Sponsor & Exhibit Opportunities<br />

Hotel & Travel Information<br />

Registration Information<br />

Click Here to<br />

Register Online!<br />

Healthtech.com/<strong>Sequencing</strong><br />

Register by<br />

July 12<br />

and Save up<br />

to $250<br />

Cambridge Healthtech Institute<br />

250 First Avenue, Suite 300<br />

Needham, MA 02494<br />

www.healthtech.com<br />

Inaugural<br />

NG X Single-Cell <strong>Sequencing</strong><br />

Meeting the Challenge One Cell at a Time<br />

August 20-21, <strong>2013</strong><br />

Over the past decade, NGS technologies have moved at a rapid pace, dramatically reducing costs, and making genome sequencing<br />

more routine. What was once unthinkable is now possible. However, most genomes are still sequenced from DNA extracted from<br />

multiple cells, which misses differences between cells that could be crucial in controlling gene expression, cell behavior, and drug<br />

response. Still, challenges for single-cell sequencing remain, including cell isolation, DNA amplification, and bioinformatics. As the<br />

techniques are being refined, subtle differences between cells, such as the tiny genomic rearrangements, will emerge. CHI’s Single-<br />

Cell <strong>Sequencing</strong> conference focuses on the links between cell variation in tissues and organ function and further elucidates the origins<br />

of diseases.<br />

Tuesday, August 20<br />

12:00 pm Main Conference Registration<br />

Sponsored by<br />

12:30 From Reads to Variants: Ten-Fold Reduction in Time<br />

and Cost with Improved Accuracy<br />

Rupert Yip, Ph.D., Director, Product Marketing, Bina Technologies<br />

Alignment and variant calling of raw NGS reads has been plagued by expensive HPC<br />

hardware and the bioinformatics personnel to support and maintain home-grown, opensource<br />

secondary analysis solutions. Such solutions can take up to weeks and $1000s per<br />

analysis. We present a genomic analysis platform that reduces, by ten-fold, the time and<br />

cost for secondary analysis while improving accuracy compared to standard pipelines. Our<br />

innovative model reduces costs by ten-fold while preventing hardware obsolescence.<br />

Tuesday, August 20<br />

»»<br />

Plenary Keynote Session<br />

2:00 Chairperson’s Opening Remarks<br />

Toby Bloom, Ph.D., Deputy Scientific Director, Informatics, New York Genome Center<br />

2:10 A Revolution in DNA <strong>Sequencing</strong> Technologies: Challenges<br />

and Opportunities<br />

Jeffery A. Schloss, Ph.D., Director, Division of Genome Sciences, National Human Genome<br />

Research Institute, National Institutes of Health<br />

The initial sequencing of the human genome spurred an appetite for much more human<br />

10<br />

sequence information to better understand the contributions of human sequence variation to<br />

health and disease. However, despite dramatic reductions during the Human Genome Project,<br />

the cost of sequencing was clearly too high to collect the very large numbers of human<br />

and numerous other organism genome sequences needed to achieve that understanding.<br />

In 2004, NHGRI launched parallel programs to reduce the cost of sequencing a mammalian<br />

genome initially by two (in five years), and eventually by four orders of magnitude (in ten<br />

years). This presentation will summarize the technologies that are in high-throughput use<br />

to produce stunning amounts of sequence and related data and novel biological insights,<br />

and will emphasize technologies currently emerging and on the horizon that may provide<br />

human genome sequence data with the nature, quality, cost and turnaround time needed for<br />

applications in research and medicine.<br />

2:50 RNA is Everywhere: Characterizing the Spectra and Flux of RNA in<br />

Mammalian Circulation<br />

David Galas, Ph.D., Principal Scientist, Pacific Northwest Diabetes Research Institute<br />

The discovery of foreign RNA in blood and tissues of humans and mice raises many<br />

questions, including its origins, the mechanisms of its transport and stability and what, if any,<br />

functions it has. I will discuss what we know about circulating exRNA in human plasma and<br />

the use of NGS in the exploration of this new area of investigation in biology and medicine.<br />

3:30 Refreshment Break in the Exhibit Hall with Poster Viewing<br />

4:15 Genomics and the Single Cell<br />

Sherman Weissman, Ph.D., Sterling Professor of Genetics and Medicine, Yale University<br />

School of Medicine<br />

Studies of single cells are being approached by widely different methods, principally either<br />

florescence microscopy including super-high resolution methods, cloning and expansion<br />

>>


Cover<br />

Conference-at-a-Glance<br />

Short Courses/Plenary Keynote<br />

<strong>Sequencing</strong> Strategies for Success<br />

Dynamics of the Microbiome<br />

on Health and Disease<br />

Single-Cell <strong>Sequencing</strong><br />

<strong>Sequencing</strong> Data Analysis<br />

and Interpretation<br />

Sponsor & Exhibit Opportunities<br />

Hotel & Travel Information<br />

Registration Information<br />

Click Here to<br />

Register Online!<br />

Healthtech.com/<strong>Sequencing</strong><br />

Register by<br />

July 12<br />

and Save up<br />

to $250<br />

Cambridge Healthtech Institute<br />

250 First Avenue, Suite 300<br />

Needham, MA 02494<br />

www.healthtech.com<br />

>


Cover<br />

Conference-at-a-Glance<br />

Short Courses/Plenary Keynote<br />

<strong>Sequencing</strong> Strategies for Success<br />

Dynamics of the Microbiome<br />

on Health and Disease<br />

Single-Cell <strong>Sequencing</strong><br />

<strong>Sequencing</strong> Data Analysis<br />

and Interpretation<br />

Sponsor & Exhibit Opportunities<br />

Hotel & Travel Information<br />

Registration Information<br />

Click Here to<br />

Register Online!<br />

Healthtech.com/<strong>Sequencing</strong><br />

Register by<br />

July 12<br />

and Save up<br />

to $250<br />

90% coverage and enabling the<br />

detection of copy number variations and newly acquired single nucleotide variations with<br />

no false positives. Adapting MALBAC to transcriptome sequencing provides both improved<br />

technical reproducibility and increased sensitivity over existing methods and simultaneously<br />

sequencing the genome and transcriptome from the same cell allows us to probe the relation<br />

between genotype and phenotype in heterogeneous populations.<br />

3:05 Refreshment Break in the Exhibit Hall, Last Chance for Poster Viewing<br />

3:35 You Need More Power: Designing Cost-Effective Experiments for<br />

Measuring Differential Gene Expression Using RNA-Seq<br />

Michele Busby, Ph.D., Computational Biologist, Broad Institute; former Research Scientist,<br />

Biology, Gabor T. Marth Laboratory, Boston College<br />

RNA-Seq is a powerful tool for detecting differential gene expression, but only realizes<br />

its full potential when experiments are optimally designed. We will demonstrate how our<br />

computational tool Scotty can be used to design an experiment that contains an adequate<br />

number of samples sequenced to a sufficient depth to achieve experimental goals. We will<br />

further discuss how the performance of different RNA-Seq protocols can dramatically affect<br />

the power of an experiment and demonstrate computational techniques for assessing the<br />

performance of a protocol.<br />

4:05 Deconvolution of Heterogeneous Tissue Samples Based on<br />

RNA-Seq Data<br />

Ting Gong, Ph.D., Assistant Professor, Molecular Carcinogenesis, University of Texas MD<br />

Anderson Cancer Center<br />

The promising biomedical applications of NGS have spurred the development of new<br />

statistical methods to capitalize on the wealth of information contained in RNA-Seq datasets.<br />

However, for heterogeneous tissues, measurements of gene expression through RNA-Seq<br />

data can be confounded by the presence of multiple cell types present in each sample.<br />

Here, we present a statistical pipeline for deconvolution of heterogeneous tissues based on<br />

RNA-Seq data.<br />

4:35 Panel Discussion with Afternoon Speakers<br />

Moderator: Jan Vijg, Ph.D., Professor and Chair, Genetics, Albert Einstein College of Medicine<br />

Panelists:<br />

Christine Vogel, Ph.D., Assistant Professor, Center for Genomics and Systems Biology, New<br />

York University<br />

Alec Chapman, Research Scientist, X. Sunney Xie Laboratory, Chemistry and Chemical<br />

Biology, Harvard University<br />

Michele Busby, Ph.D., Computational Biologist, Broad Institute; former Research Scientist,<br />

Biology, Gabor T. Marth Laboratory, Boston College<br />

Ting Gong, Ph.D., Assistant Professor, Molecular Carcinogenesis, University of Texas MD<br />

Anderson Cancer Center<br />

Andrey Shabalin, Ph.D., Research Scientist, Edwin J.C.G. van den Oord Laboratory, Center for<br />

Biomarker Research and Personalized Medicine, Pharmacotherapy and Outcomes Science,<br />

Virginia Commonwealth University<br />

Christina Schweikert, Ph.D., Division of Computer Science, Mathematics and Science, St.<br />

John’s University<br />

5:00 Close of Single-Cell <strong>Sequencing</strong> Conference<br />

Cambridge Healthtech Institute<br />

250 First Avenue, Suite 300<br />

Needham, MA 02494<br />

www.healthtech.com<br />

12


Cover<br />

Conference-at-a-Glance<br />

Short Courses/Plenary Keynote<br />

<strong>Sequencing</strong> Strategies for Success<br />

Dynamics of the Microbiome<br />

on Health and Disease<br />

Single-Cell <strong>Sequencing</strong><br />

<strong>Sequencing</strong> Data Analysis<br />

and Interpretation<br />

Sponsor & Exhibit Opportunities<br />

Hotel & Travel Information<br />

Registration Information<br />

Click Here to<br />

Register Online!<br />

Healthtech.com/<strong>Sequencing</strong><br />

Register by<br />

July 12<br />

and Save up<br />

to $250<br />

Cambridge Healthtech Institute<br />

250 First Avenue, Suite 300<br />

Needham, MA 02494<br />

www.healthtech.com<br />

Sixth Annual<br />

August 20-21, <strong>2013</strong><br />

NG X <strong>Sequencing</strong> Data Analysis<br />

and Interpretation Progress in the Pipeline<br />

<strong>Sequencing</strong> a genome is only the beginning. Several layers of analysis are necessary to convert raw sequence data into an understanding<br />

of functional biology. First, error sources in the original raw data from multiple platforms and diverse applications must be accounted for.<br />

Then, as computational methods for assembly, alignment, and variation detection continue to advance, a broad range of genetic analysis<br />

applications including comparative genomics, high-throughput polymorphism detection, analysis of coding and non-coding RNAs, and<br />

identifying mutant genes in disease pathways can be addressed. CHI’s <strong>Sequencing</strong> Data Analysis and Interpretation conference combines<br />

unique perspectives from a variety of researchers, engineers, biostatisticians, and software developers involved in NGS data analysis.<br />

Tuesday, August 20<br />

12:00 pm Main Conference Registration<br />

Sponsored by<br />

12:30 From Reads to Variants: Ten-Fold Reduction in Time<br />

and Cost with Improved Accuracy<br />

Rupert Yip, Ph.D., Director, Product Marketing, Bina Technologies<br />

Alignment and variant calling of raw NGS reads has been plagued by expensive HPC<br />

hardware and the bioinformatics personnel to support and maintain home-grown, opensource<br />

secondary analysis solutions. Such solutions can take up to weeks and $1000s per<br />

analysis. We present a genomic analysis platform that reduces, by ten-fold, the time and<br />

cost for secondary analysis while improving accuracy compared to standard pipelines. Our<br />

innovative model reduces costs by ten-fold while preventing hardware obsolescence.<br />

Tuesday, August 20<br />

»»<br />

Plenary Keynote Session<br />

2:00 Chairperson’s Opening Remarks<br />

Toby Bloom, Ph.D., Deputy Scientific Director, Informatics, New York Genome Center<br />

2:10 A Revolution in DNA <strong>Sequencing</strong> Technologies: Challenges<br />

and Opportunities<br />

Jeffery A. Schloss, Ph.D., Director, Division of Genome Sciences, National Human Genome<br />

Research Institute, National Institutes of Health<br />

The initial sequencing of the human genome spurred an appetite for much more human<br />

sequence information to better understand the contributions of human sequence variation to<br />

health and disease. However, despite dramatic reductions during the Human Genome Project,<br />

13<br />

the cost of sequencing was clearly too high to collect the very large numbers of human<br />

and numerous other organism genome sequences needed to achieve that understanding.<br />

In 2004, NHGRI launched parallel programs to reduce the cost of sequencing a mammalian<br />

genome initially by two (in five years), and eventually by four orders of magnitude (in ten<br />

years). This presentation will summarize the technologies that are in high-throughput use<br />

to produce stunning amounts of sequence and related data and novel biological insights,<br />

and will emphasize technologies currently emerging and on the horizon that may provide<br />

human genome sequence data with the nature, quality, cost and turnaround time needed for<br />

applications in research and medicine.<br />

PRESENT YOUR RESEARCH<br />

Gain further exposure by presenting your work in the poster<br />

sessions. To secure a poster board and inclusion in the conference<br />

materials, your abstract must be submitted, approved and your<br />

registration paid in full by July 12, <strong>2013</strong>.<br />

Reasons you should present your research poster at this conference:<br />

• Your poster will be exposed to our international delegation.<br />

• Receive $50 off your registration.<br />

• Your poster abstract will be published in our conference materials.<br />

• Your research will be seen by leaders from top pharmaceutical, biotech,<br />

academic and government institutes.<br />

>>


Cover<br />

Conference-at-a-Glance<br />

Short Courses/Plenary Keynote<br />

<strong>Sequencing</strong> Strategies for Success<br />

Dynamics of the Microbiome<br />

on Health and Disease<br />

Single-Cell <strong>Sequencing</strong><br />

<strong>Sequencing</strong> Data Analysis<br />

and Interpretation<br />

Sponsor & Exhibit Opportunities<br />

Hotel & Travel Information<br />

Registration Information<br />

Click Here to<br />

Register Online!<br />

Healthtech.com/<strong>Sequencing</strong><br />

Register by<br />

July 12<br />

and Save up<br />

to $250<br />

Cambridge Healthtech Institute<br />

250 First Avenue, Suite 300<br />

Needham, MA 02494<br />

www.healthtech.com<br />

>


Cover<br />

Conference-at-a-Glance<br />

Short Courses/Plenary Keynote<br />

<strong>Sequencing</strong> Strategies for Success<br />

Dynamics of the Microbiome<br />

on Health and Disease<br />

Single-Cell <strong>Sequencing</strong><br />

<strong>Sequencing</strong> Data Analysis<br />

and Interpretation<br />

Sponsor & Exhibit Opportunities<br />

Hotel & Travel Information<br />

Registration Information<br />

Click Here to<br />

Register Online!<br />

Healthtech.com/<strong>Sequencing</strong><br />

Register by<br />

July 12<br />

and Save up<br />

to $250<br />


Cover<br />

Conference-at-a-Glance<br />

Short Courses/Plenary Keynote<br />

<strong>Sequencing</strong> Strategies for Success<br />

Dynamics of the Microbiome<br />

on Health and Disease<br />

Single-Cell <strong>Sequencing</strong><br />

<strong>Sequencing</strong> Data Analysis<br />

and Interpretation<br />

Sponsor & Exhibit Opportunities<br />

Hotel & Travel Information<br />

Registration Information<br />

Click Here to<br />

Register Online!<br />

Healthtech.com/<strong>Sequencing</strong><br />

Register by<br />

July 12<br />

and Save up<br />

to $250<br />

Sponsorship, Exhibit, &<br />

Lead <strong>Generation</strong> Opportunities<br />

CHI offers comprehensive sponsorship packages which include presentation opportunities, exhibit<br />

space and branding, as well as the use of the pre and post-show delegate lists. Customizable<br />

sponsorship packages allow you to achieve your objectives before, during, and long after the<br />

event. Signing on early will allow you to maximize exposure to hard-to-reach decision makers<br />

Agenda Presentations<br />

Showcase your solutions to a guaranteed, highly-targeted audience. Package includes a 15 or<br />

30-minute podium presentation within the scientific agenda, exhibit space, on-site branding and<br />

access to cooperative marketing efforts by CHI.<br />

Breakfast & Luncheon Presentations<br />

Opportunity includes a 30-minute podium presentation. Boxed lunches are delivered into the<br />

main session room, which guarantees audience attendance and participation. A limited number<br />

of presentations are available for sponsorship and they will sell out quickly. Sign on early to<br />

secure your talk!<br />

Invitation-Only VIP Dinner/Hospitality Suite<br />

Sponsors will select their top prospects from the conference pre-registration list for an evening<br />

of networking at the hotel or at a choice local venue. CHI will extend invitations and deliver<br />

prospects. Evening will be customized according to sponsor’s objectives i.e.:<br />

• Purely social<br />

• Focus group<br />

• Reception style<br />

• Plated dinner with specific conversation focus<br />

Exhibit<br />

Exhibitors will enjoy facilitated networking opportunities with high-level conference delegates.<br />

Speak face-to-face with prospective clients and showcase your latest product, service, or solution.<br />

*Inquire about additional branding opportunities!<br />

Sponsoring Organization<br />

Official Sponsoring Publication<br />

Lead Sponsoring Publications<br />

Sponsoring Publications<br />

FierceBiotech<br />

THE BIOTECH INDUSTRY’S DAILY MONITOR<br />

Looking for additional ways to drive leads to your<br />

sales team?<br />

CHI can help!<br />

We offer clients numerous options for custom lead generation programs to address<br />

their marketing and sales needs, including:<br />

Custom Lead <strong>Generation</strong> Programs:<br />

• Targeted campaign promotion to unparalleled database of 800,000+ individuals<br />

in the life sciences<br />

• Experienced marketing team promotes campaign, increasing awareness and leads<br />

Live Webinars:<br />

• Assistance in procuring speakers<br />

• Experienced moderators<br />

• Dedicated operations team to coordinate all efforts<br />

Whitepapers:<br />

• Industry recognized authors, with vast editorial experience, available to help write<br />

your white paper<br />

CHI also offers market surveys, podcasts, and more!<br />

To customize your participation at this<br />

event, please contact:<br />

Jay Mulhern<br />

Business Development Manager<br />

781-972-1359<br />

jmulhern@healthtech.com<br />

Web Partners<br />

Cambridge Healthtech Institute<br />

250 First Avenue, Suite 300<br />

Needham, MA 02494<br />

www.healthtech.com<br />

16


Cover<br />

Conference-at-a-Glance<br />

Short Courses/Plenary Keynote<br />

<strong>Sequencing</strong> Strategies for Success<br />

Dynamics of the Microbiome<br />

on Health and Disease<br />

Single-Cell <strong>Sequencing</strong><br />

<strong>Sequencing</strong> Data Analysis<br />

and Interpretation<br />

Sponsor & Exhibit Opportunities<br />

Hotel & Travel Information<br />

Registration Information<br />

Click Here to<br />

Register Online!<br />

Healthtech.com/<strong>Sequencing</strong><br />

Register by<br />

July 12<br />

and Save up<br />

to $250<br />

Hotel & Travel<br />

Information<br />

Conference Hotel:<br />

Omni Providence Hotel<br />

One West Exchange Street<br />

Providence, RI 02903<br />

Phone: 401-598-8000<br />

Discounted Room Rate: $165 s/d<br />

Discounted Reseveration Cut-off Date: July 19, <strong>2013</strong><br />

Please visit our conference website to make your reservation online or you may call the hotel<br />

directly. You will need to identify yourself as a Cambridge Healthtech Institute conference attendee<br />

to receive the discounted room rate with the host hotel. Reservations made after the cut-off date or<br />

after the group room block has been filled (whichever comes first) will be accepted on a space and<br />

rate-availability basis. Rooms are limited, so please book early.<br />

Why Stay at the Omni Providence?<br />

The Omni Providence was awarded the prestigious “Highest in Hotel Guest Satisfaction among<br />

Upper-Upscale Hotel Chains” award by JD Power and Associates for 2012. In addition to being<br />

attached to the upscale Providence Place Mall, it is within walking distance to some of the city’s best<br />

historic attractions, gourmet restaurants, shopping and entertainment. The hotel features an indoor<br />

pool and complimentary wireless internet in all guest rooms.<br />

We realize you have many choices when making your travel arrangements. Please understand that<br />

reserving your room in the CHI room block at the conference hotel allows you to take full advantage<br />

of the conference sessions, events and networking opportunities, and ensures that our staff will be<br />

available to help should you have any issues with your accommodations.<br />

Flight Discounts:<br />

Special discounts have been established with American Airlines for this conference.<br />

• Call American Airlines 1-800-433-1790 and use Conference code 8283BJ.<br />

• Go online www.aa.com/group and enter Conference code 8283BJ in promotion discount box.<br />

• Contact our dedicated travel agent Rona Meizler at 1-617-559-3735 or<br />

rona.meizler@protravelinc.com.<br />

Car Rental Discounts:<br />

Special discounts have been established with Hertz for this conference.<br />

Please use one of the following methods:<br />

• Call Hertz 1-800-654-3131 and use our Hertz Convention Number (CV): 04KL0004.<br />

• Go online www.hertz.com and use our Hertz Convention Number (CV): 04KL0004.<br />

Cambridge Healthtech Institute<br />

250 First Avenue, Suite 300<br />

Needham, MA 02494<br />

www.healthtech.com<br />

17


Cover<br />

Conference-at-a-Glance<br />

Short Courses/Plenary Keynote<br />

<strong>Sequencing</strong> Strategies for Success<br />

How to Register: Healthtech.com/<strong>Sequencing</strong><br />

reg@healthtech.com • P: 781.972.5400 or Toll-free in the U.S. 888.999.6288<br />

Please use keycode DTD P when registering<br />

short courses<br />

Commercial<br />

Academic, Government, Hospital-affiliated<br />

One short course $695 $395<br />

Two short courses $995 $695<br />

Receive a FREE eNewsletter by signing up<br />

at chimediagroup.com<br />

The latest industry news, commentary<br />

and highlights from Bio-IT World<br />

Innovative management in clinical trials<br />

Dynamics of the Microbiome<br />

on Health and Disease<br />

Single-Cell <strong>Sequencing</strong><br />

<strong>Sequencing</strong> Data Analysis<br />

and Interpretation<br />

Sponsor & Exhibit Opportunities<br />

Hotel & Travel Information<br />

Registration Information<br />

Click Here to<br />

Register Online!<br />

Healthtech.com/<strong>Sequencing</strong><br />

Register by<br />

July 12<br />

and Save up<br />

to $250<br />

Cambridge Healthtech Institute<br />

250 First Avenue, Suite 300<br />

Needham, MA 02494<br />

www.healthtech.com<br />

Monday, August 19 Tuesday, August 20<br />

SC1: Mapping Genomes in 3D<br />

SC3: Assembly and Alignment<br />

SC2: Sample Prep<br />

SC4: Cancer Genetics and Epigenetics<br />

Conference Pricing<br />

BASIC PACKAGE (Includes access to 1 conference, excludes short courses)<br />

Advance Registration Discount until July 12, <strong>2013</strong> $1495 $695<br />

Registrations after July 12, <strong>2013</strong>, and on-site $1745 $775<br />

STANDARD PACKAGE (Includes access to 2 conferences, excludes short courses)<br />

Advance Registration Discount until July 12, <strong>2013</strong> $2145 $1045<br />

Registrations after July 12, <strong>2013</strong>, and on-site $2345 $1095<br />

August 19-20, <strong>2013</strong> August 20-21, <strong>2013</strong><br />

<strong>Sequencing</strong> Strategies for Success<br />

Single-Cell <strong>Sequencing</strong><br />

Dynamics of the Microbiome on Health and Disease<br />

<strong>Sequencing</strong> Data Analysis and Interpretation<br />

Conference Discounts<br />

Poster Submission – Discount ($50 Off)<br />

Poster abstracts are due by July 12, <strong>2013</strong>. Once your registration has been fully processed, we will send an email containing a<br />

unique link allowing you to submit your poster abstract. If you do not receive your link within 5 business days, please contact<br />

jring@healthtech.com. *CHI reserves the right to publish your poster title and abstract in various marketing materials and products.<br />

Alumni Discount SAVE 20%: We appreciate your past participation at our events. Through loyalty like yours, this event has become a must-attend<br />

for senior level decision makers. As a result of your great loyalty, we are pleased to extend this exclusive opportunity to save an additional 20% off<br />

the registration rate. Simply select the “Alumni Discount” option on the online registration form to take advantage of this special offer.<br />

NGS Leaders Discounts: Members of the NGS Leaders community will receive a $50 discount off the conference registration.<br />

REGISTER 3 - 4th IS FREE: Individuals must register for the same conference or conference combination and submit completed registration form<br />

together for discount to apply. Please reproduce this registration form as needed.<br />

Group Discounts are Available! Special rates are available for multiple attendees from the same organization. For more information on group<br />

discounts contact David Cunningham at 781-972-5472.<br />

*Alumni, NGS Leaders, Twitter, LinkedIn, Facebook or any other promotional discounts cannot be combined. Discounts not applicable on Event Short Courses.<br />

If you are unable to attend but would like to purchase the NG X <strong>Applying</strong> <strong>Next</strong>-<strong>Generation</strong><strong>Sequencing</strong> CD for $750 (plus shipping),<br />

please visit Healthtech.com/sequencing. Massachusetts delivery will include sales tax.<br />

A series of diverse reports designed to<br />

keep life science professionals informed<br />

of the salient trends in pharmaceutical<br />

technology, business, clinical development,<br />

and therapeutic disease markets.<br />

For a detailed list of reports, visit<br />

InsightPharmaReports.com, or contact Rose<br />

LaRaia, rlaraia@healthtech.com, +1-781-<br />

972-5444.<br />

Barnett is a recognized leader in clinical<br />

education, training, and reference guides<br />

for life science professionals involved in<br />

the drug development process. For more<br />

information, visit barnettinternational.com.<br />

Cambridge Healthtech Associates<br />

(CHA) leverages its extensive network<br />

and unique collaborative model in<br />

consulting, technology evaluations<br />

and community-based communication<br />

services to help clients in the life<br />

sciences industry commercialize and<br />

penetrate the marketplace to increase<br />

revenue. Visit www.chacorporate.com.<br />

Additional registration details<br />

Each registration includes all conference<br />

sessions, posters and exhibits, food<br />

functions, and access to the conference<br />

proceedings link.<br />

Handicapped Equal Access: In accordance<br />

with the ADA, Cambridge Healthtech<br />

Institute is pleased to arrange special<br />

accommodations for attendees with<br />

special needs. All requests for such<br />

assistance must be submitted in writing<br />

to CHI at least 30 days prior to the start<br />

of the meeting.<br />

To view our Substitutions/<br />

Cancellations Policy, go to<br />

http://www.healthtech.com/regdetails<br />

Video and or audio recording of any kind<br />

is prohibited onsite at all CHI events.

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