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FRIDAY, FEBRUARY 27
INTEGRATING GENOMIC DATA
8:30 Chairperson’s Remarks
8:35 The Genomic Data Pipeline: Collecting, Cleaning, Analyzing, Integrating, Sharing
Jeanette Papp, Ph.D., Associate Professor, Human Genetics, University of California, Los Angeles
A tour of the Genomic Information Superhighway - from historical perspective to current challenges and solutions, with a glimpse into the future. I will cover the evolution of genomic data management and integration systems and outline some of our own solutions in data collection and management, data merging and integration, statistical and network analysis, and data sharing. List why this paper should be considered?: I can give a comprehensive perspective on the history, current state of the art, and future challenges of genomic data integration. My group has been involved in genomic analysis from the early days of the Human Genome Project. We developed some of the earliest statistical genetics methods and software, built some early genetic LIMS/databases to hold genetic data when data sets numbered in the thousands of data points, and have evolved those systems over the years to accommodate whole genome association data and next generation sequencing data of tens of millions of data points. We are now extending our web-based data systems that integrate multiple data types, querying tools, analysis methods, and data sharing capabilities.
9:05 Surviving the Data Deluge: Informatics for Next Generation Sequencing
Toby Bloom, Ph.D, Director of Informatics, Genome Sequencing Platform, The Broad Institute
9:35 Integrating Public Genomics Data into Pharmaceutical R&D
Hans-Martin Will, Ph.D., Senior Director, Genomics R&D, Rosetta Biosoftware
Over the past few years, more and more comprehensive genomics data sets have been generated by academic and publicly-funded consortia and made accessible-notable examples are the Framingham Heart Study and the data released by the Wellcome Trust Case Control Consortium. This abundance of data is creating a new reality for pharmaceutical R&D, whereby a large number of data sets relevant to internal R&D projects are generated from publicly-funded, academic and governmental organizations. With this insight, many organizations are in the process of devising strategies for making best use of these data, and implementing approaches for effectively bringing the data sets in-house and integrating them into the context of their on-going scientific research efforts. In this talk, we will discuss the various types of challenges pharmaceutical R&D organizations are facing when bringing in public data sets. Starting with mundane data formatting problems, unknown data quality and varying taxonomies, we will conclude our discussion with a brief survey of approaches and opportunities for mining these data.
10:05 Search Strategies for Correlating Combined Public and Internal Large-Scale Studies
Ilya Kupershmidt, Cofounder and Vice President Products, NextBio
NextBio specializes in the discovery and testing of hypotheses within the growing body of the world’s high-throughput data. To enable real time search NextBio pre-computes billions of findings within highly heterogeneous data. These findings are based on the global meta-analysis across thousands of genomic, genotyping and other large-scale “omics” studies. |
Sponsored by
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10:20 Coffee Break
11:00 Platform for the FDA Genetic
Data Submission and Review Process
Weida Tong, Ph.D., Director, Center for Toxicoinformatics,
National Center for Toxicological Research, U.S. Food and Drug
Administration
Rapidly developing technologies for genetic analysis are driving
the emergence of the new research fields of personalized
medicine and targeted therapeutics. In order to guide effective
development and regulation of pharmacogenomics and medical
devices resulting from this research, the expertise, tools, and
processes for utilizing genetic data are needed in the FDA. To
this end, the FDA’s Critical Path Initiative created the
Voluntary eXploratory Data Submission (VXDS) mechanism to
provide a collaborative environment in which the research
community, sponsors and the FDA can work together on data
management, analysis and interpretation outside normal
regulatory interactions. With the increasing number of
submissions based on genetic data, a parallel informatics
platform has been conceived. This talk will introduce this new
initiative, SNPTrack, being undertaken by the NCTR/FDA in
collaboration with Rosetta Biosoftware, for development of FDA
regulatory capability for analyzing VXDS and formal submissions
of genotyping data. The goal is a system which enables FDA
reviewers to reconstruct sponsor analysis of genetic variation
data, explore alternative analysis methodologies and respond to
the sponsor with the agency’s understanding and
recommendations. It is envisioned that the outcome of this
initiative will drive adoption of industry best practices and
standards for formal data submissions.
11:30 Speaker to be Announced
12:00 pm Luncheon Presentation (Sponsorship Available) or Lunch on Your Own
DATA INTEGRATION AND MANAGEMENT FOR EARLY AND LATE CHEMISTRY
1:00 Chairperson’s Remarks
1:05 Lilly’s Transition from Paper to Electronic Lab Notebooks
Keith DeVries, Ph.D., Director, Chemical Product, R&D, Eli Lilly and Company, Lilly Research Labs
Lilly began evaluating electronic lab notebooks in 2003. By 2005, the Process Chemistry group had fully implemented a paper-less system.
The planned deployment of a single electronic lab notebook solution across the entire company will be described, as well as various challenges related to quality and legal concerns and end-user uptake.
The benefits to Lilly derived from a shift from paper to electronic lab notebooks will be shared, in addition to our recent efforts to transition our third party partners to electronic lab notebooks.
1:35 Integration of Chemical Genomics and Structural Biology Informatics: Novel Insights into the Kinase Gene Family?
Stephan Schürer, Ph.D., Department of Pharmacology, Miller School of Medicine & Center for Computational Science, University of Miami
We developed integrated data analysis pipelines to quantify similarity relationships among the protein kinase complement of the human genome (the “kinome”) from different perspectives: domain sequences, small molecule kinase activity data, and structure-based physicochemical properties of the ATP binding sites. While we gain insight into differences and synergies of chemogenomics- and structural biology-informatics based approaches to identify and utilize gene-family-wide similarity relationships we also investigate the differences of active and inactive kinase conformations in the same context. Integrating large chemical genomics data sets and high-quality experimental and modeled structures covering almost the entire Kinome we developed discovery pipelines allowing receptor-site information and small molecule activity data from entire target families to be used in the rational design of compounds with desirable selectivity profiles.
2:05 Techniques for Effective Integrated Access to Large Compound-oriented Drug Discovery Databases
Michael, Lajiness, Ph.D., Research Scientist, Structural and Computational Sciences, Eli Lilly & Company
2:35 Closing Remarks and Wrap-up: Integrated R&D Informatics
Moderator: Joseph A. Cerro, President & Founder, Schooner Group LLC
3:05 Close of Conference
Overview
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