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Please click here to download the following podcasts: 

Canonical Genes, Pseudogenes & ncRNA 

Made in Manhattan: The Rapid Growth of the New York Genome Center 

In the Wake of the Flood 

Using VAAST to Identify Causative Mutations 

Taking NGS into the Clinic 

1000 Genomes Project: Cancer, Genetic Variation, and Drug Response 

Mapping Genomes in 3D 

The Human Microbiome Project: Next-Generation Sequencing and Analysis of the Indigenous Microbiota 

Building a Genome Sequencing Center: Managing and Mining Two Years of NGS Data 

Next-Generation Sequencing Data Analysis - Day 1

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Monday, August 13

8:00 am Short Course Registration

8:30-11:30 Short Courses

1:00 pm Conference Registration


Plenary Session: Successful Sequencing Centers  

2:00 Chairperson’s Opening Remarks

Kevin Davies, Ph.D., Editor-in-Chief, Bio-IT World

2:10 New York Genome Center
Making the Technology Work:  A Collaborative Ecosystem for Improved Patient Outcomes

Nancy-KelleyNancy J. Kelley, J.D., M.P.P., Founding Executive Director, New York Genome Center - Download Podcast 

In order to achieve our ultimate goals of improved patient outcomes and the delivery of personalized medicine, we must create a collaborative framework around innovative sequencing technology that will drive success.  Drawing on her experience with the creation and launch of the New York Genome Center, Ms. Kelley will share insights on creating the framework necessary for unleashing innovative technology to deliver on the promise of personalized medicine.

2:40 Washington University
Dealing with Terabase-Scale Sequencing Projects

George-WeinstockGeorge Weinstock, Ph.D., Associate Director, The Genome Institute, Washington University

As human genetics, cancer genomics, and metagenomics all move toward use of next-generation sequencing as a primary data source, project scales have rapidly reached the terabase level. This increased data density involves new challenges at the bench and the computer. Examples of such projects will be given as well as innovations in methodology to take advantage of the expanded sequencing capability.

3:10 The Broad Institute
High-Throughput Sample Preparation and Sequencing at the Broad Institute: Challenges & Opportunities

Sheila-FisherSheila Fisher, Assistant Director, Technology Development, Genome Sequencing Platform, The Broad Institute

The Broad Institute processes more than 40,000 samples per year for sequencing across a variety of technology platforms.  Here, we present an overview of the pipelines and process improvements as well as the infrastructure developed to manage the unique challenges of different sequencing applications at scale.

3:40 Refreshment Break

4:00 Cold Spring Harbor
Next-Generation Sequencing in Case Control and Family Studies of Disease

Richard-McCombieW. Richard McCombie, Ph.D., Resource Head, Cancer Center; Professor, Cold Spring Harbor Laboratory

I will explain the various concepts of NGS and how the change in the technology has changed the way we can do biology and soon change the way medicine is carried out. In particular, I will discuss how we use both exome sequencing and whole genome sequencing on different populations in order to understand the genetic variation that underlies major psychiatric disorders. The exome sequencing approaches let us study large case control populations where we need to look at thousands of individuals to determine the genetic variation that makes them susceptible to psychiatric disorders. In addition we are extensively involved in whole genome sequencing where we query every nucleotide of the genome of multiple members of affected families.

4:30 Yale University
Recent Advancements at the Yale Center for Genome Analysis

Shrikant Mane, Ph.D., Senior Research Scientist, Genetics; Senior Deputy Director, MBB Keck Biotech Services; Director, Microarray Resource, Yale University


5:00 J. Craig Venter Institute
Human Genomes – Lessons from Africa

Vanessa-HayesVanessa M. Hayes, Ph.D., Professor, Genomic Medicine, J. Craig Venter Institute

Current genome information is heavily biased towards recently diverged populations outside of Africa, where Africans are largely excluded from studies based on large scale DNA analysis. Our research focus has been to obtain a better understanding of the indigenous peoples of Southern Africa. The ability to define the evolutionary history of modern humans, and in parallel the evolution of human adaptation and disease, has been dramatically advanced by the ability to contrast and compare patterns of DNA sequence variation between different contemporary populations.

5:30 Welcome Reception in the Exhibit Hall with Poster Viewing

6:30 Close of Day


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