Thursday, March 21
7:30 am Genome in a Bottle Workshop Registration
8:30 Genome in a Bottle Workshop
NIST has recently convened the Genome in a Bottle Consortium to develop the reference materials, reference methods, and reference data needed to support confidence in human whole genome variant calls. The work of this consortium will enable translation of sequencing to clinical applications through a community standards development effort.
The consortium will host a morning session to present its work plan, progress at NIST in developing whole-genome reference materials, and updates from each of four working groups: (1) Reference Material (RM) Selection and Design; (2) Measurements for Reference Material Characterization; (3) Bioinformatics, Data Integration and Data Representation; (4) Performance Metrics and Figures of Merit.
Presenters Include:
Marc Salit, Ph.D., Leader, Multiplexed Biomolecular Science Group, NIST Chemical Science and Technology Laboratory
Justin Zook, Ph.D., Multiplexed Biomolecular Science Group, NIST Chemical Science and Technology Laboratory
Justin Johnson, Director, Bioinformatics, EdgeBio
Andrew Grupe, Ph.D., Senior Director Pharmacogenomics, Celera/Quest Diagnostics
Stephen Sherry, Ph.D., Chief, Reference Collections Sections, Information Engineering, National Center for Biotechnology
Michael Eberle, Ph.D., Associate Director, Bioinformatics, Illumina
An open discussion with the working group chairs and consortium hosts from NIST will follow the presentations.
Click Here for a Detailed Agenda
12:00 pm Enjoy Lunch on Your Own
1:00 Conference Registration
1:30 Chairperson’s Opening Remarks
» 1:40 FEATURED PRESENTATION
Profiling and NGS in Cancer: Challenges and Applications to Targets, Models, and Resistance
Paul Rejto, Ph.D., Director, Computational Biology, Oncology Research Unit, Pfizer, Inc.
Tumor heterogeneity and differential drug response can be addressed in preclinical drug discovery by the application of NGS. Lessons learned from practical examples where molecular characterization has enabled and accelerated cancer drug discovery programs will be discussed including target identification, model selection, and predictive biomarkers for patient segmentation.
2:15 Impact of Next-Generation Sequencing on Oncology Drug Discovery and Early Clinical Development
Oleg Iartchouk, Ph.D., Lead Scientist and Lab Head, Applied Genomics, Translational and Experimental Medicine, Sanofi
I will describe NGS applications used by our group for target discovery and validation. In addition, several examples of NGS utilization for early clinical projects will be presented.
2:50 Uncovering Genetic Interactions in Tumor Cell Lines: A Workflow-Based Approach for NGS Analysis
Benjamin J. Adamczyk, Ph.D., Scientific Account Manager, Genedata USA, Inc.
Next generation sequencing technologies can generate large volumes of genome, transcriptome, and epigenome data, which can be a challenge to analyze, interpret, and manage. Here we use the Genedata Expressionist® for Genomic Profiling enterprise platform to analyze across these data types and uncover key differences between breast cancer cell lines.
3:05 Refreshment Break in the Exhibit Hall with Poster Viewing
» 3:45 FEATURED PRESENTATION
Devising Methods for Intuitively Handling Huge Data Sets to Simplify Biomarker Discovery
Dongliang Ge, Ph.D., Director, Bioinformatics, Gilead Sciences, Inc.
Using next-generation sequencing technologies for biomarker and drug target discovery has been increasingly important in the pharmaceutical industry. This process involves management and analysis of a large amount of data. How do we efficiently manage these data at different levels of precision to ensure a seamless data flow? How do we annotate and present these data to make it more comprehensible and deliverable? Where are the current bottlenecks in this industrialized process and how can we tackle them?
4:15 Stratification of Clinical Trial Subjects Using Biomarkers Developed by Next-Generation Sequencing
Brian Dougherty, Ph.D., Lead, Translational Genomics, Oncology, AstraZeneca
The presentation will review the applications of NGS for biomarker development and subject stratification, translating this information in effective clinical trial design and management, as well as the advantages and disadvantages of outsourcing versus internal NGS.
4:45 From Theory to Practice: Our First Thousand Samples
Seth D. Crosby, M.D., Director, Alliances and Partnerships, Department of Genetics, Washington University School of Medicine
Having run nearly 1000 clinical samples for physicians and trials through our NGS lab, we have learned much concerning what a CAP/CLIA certified facility must allocate for preparation, validation, analysis and communication.
5:30 Welcome Reception in the Exhibit Hall with Poster Viewing
6:30 Close of Day