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An Introduction to Genomics and SAS Scientific Discovery Solutions Dr Karen M Miller Product Manager Bioinformatics Copyright © 2003, SAS Institute Inc. All rights reserved. Copyright © 2003 SAS Institute Inc All rights reserved SAS EMEA 16.06.0311 Overview ! SAS Life Sciences ! Genomics at SAS ! Introduction to Scientific Discovery Solutions Copyright © 2003, SAS Institute Inc. All rights reserved. 2 SAS Core Competencies Copyright © 2003, SAS Institute Inc. All rights reserved. 3 SAS Core Competencies Copyright © 2003, SAS Institute Inc. All rights reserved. 4 SAS Biomedical Intelligent Enterprise CONTINUOUS VALIDATION DISCOVERY DEVELOPMENT SAS Research Data Management SAS Drug Development Patent expiration: 20 years SALES & MANUFACTURING MARKETING SAS Process Intelligence IntelliVisor for Pharma Customer Relationship Management for Pharma SAS Microarray Solution COLLABORATIVE PROCESS ADMINISTRATION Strategic Performance Management Supplier Relationship Management Human Capital Management Patent Discovery Service IT Management Financial Management Risk Management SAS uniquely equipped to deliver integrated solutions that span the entire Life Sciences enterprise Copyright © 2003, SAS Institute Inc. All rights reserved. 5 SAS Understands Life Sciences ! Stable, global company ! 26 years of experience in Life Sciences ! More than 1000 pharma/biotech customers worldwide ! Dedicated resources in R&D, marketing, and sales ! FDA standard for e-submission Copyright © 2003, SAS Institute Inc. All rights reserved. 6 Scientific Discovery Organisation at SAS ! Created from a merger of individuals from our longstanding pharma, statistics, and data mining groups ! Experts in statistics, computer science, and molecular science and benefits from the years of SAS know-how and skill across multiple industries and technologies ! Collaborations with public, commercial, and federal institutions Copyright © 2003, SAS Institute Inc. All rights reserved. 7 The Need in Scientific Discovery ! Data Volumes ! Data Visualisation ! Data Analysis ! Data Regulation Copyright © 2003, SAS Institute Inc. All rights reserved. 8 The Pains in Scientific Discovery ! Cost/ ROI ! Time/ROI ! Regulatory Compliance Copyright © 2003, SAS Institute Inc. All rights reserved. 9 The Pains in Scientific Discovery Cost to Develop Drug Copyright © 2003, SAS Institute Inc. All rights reserved. (PhRMA 2002 Pharmaceutical industry Profile) 10 The Pains in Scientific Discovery Time: approx 14.5 years Drug discovery (6-12 yrs) Traditional linear process Identify drug target Lead discovery Lead Optimization Target validation Drug development (4-6 yrs) Pre-Clinical Development studies Drug development (3 yrs) Moving to concurrent processes Drug discovery (3-5 yrs) Identify drug target Process Goal: Identify failures early Lead discovery Lead Optimization Development Pre-Clinical studies Target validation Copyright © 2003, SAS Institute Inc. All rights reserved. 11 The Pains in Scientific Discovery ! Regulatory Compliance • Major Bottleneck • New drug launches are erratic: 2001< 25, 2002< 35 Copyright © 2003, SAS Institute Inc. All rights reserved. 12 Overview ! SAS Life Sciences ! Genomics at SAS ! Introduction to Scientific Discovery Solutions Copyright © 2003, SAS Institute Inc. All rights reserved. 13 Scientific Discovery and the Central Dogma Transcriptomics Proteomics Copyright © 2003, SAS Institute Inc. All rights reserved. 14 Computer Science Statistics & Mining SAS Genomics Genetics Transcriptomics DNA RNA Sequencers Microarrays Proteomics Proteins Mass Spectrometers Microtechnological Breakthroughs Copyright©©2003, 2002 , SAS Inc. AllAll rights reserved. Copyright SASInstitute Institute Inc. rights reserved. 15 Genetic Marker Data Copyright © 2003, SAS Institute Inc. All rights reserved. 16 SAS/Genetics: Simplifying Marker Analyses ! Analysts can: • Study genetic markers individually • Examine the relationship between two or more markers • Find associations between markers and traits using case-control or family data Copyright © 2003, SAS Institute Inc. All rights reserved. 17 SAS /Genetics Copyright © 2003, SAS Institute Inc. All rights reserved. 18 Computer Science Statistics & Mining SAS Genomics Genetics Transcriptomics DNA RNA Sequencers Microarrays Proteomics Proteins Mass Spectrometers Microtechnological Breakthroughs Copyright©©2003, 2002 , SAS Inc. AllAll rights reserved. Copyright SASInstitute Institute Inc. rights reserved. 19 Scientific Discovery Process: Standardizing innovation Design experiment Experimental Design Run experiment Generate hypothesis Engines AP Library Sharing and Accessibility Refine analysis Analyze Data Visualization Share analysis Security Copyright © 2003, SAS Institute Inc. All rights reserved. Compare with known data Analytical Processes (AP) Centralized repository 20 SAS Scientific Discovery Solutions: Optimizing Knowledge Exchange Statisticians Biologists Toxicologists Geneticists Managers Directors Executives Anticipate issues Identify synergies Improve success Warehousing Analytics Visualization SAS Scientific Discovery Project 1 Geneticists Copyright © 2003, SAS Institute Inc. All rights reserved. Project 2 Protein Scientists Project 3 Chemists Toxicologists 21 SAS Scientific Discovery Solutions Data engines Future solutions Data models Visual’n Analysis SAS Microarray Solution Cohesive solutions for discovery research Extendable with other SAS technologies & solutions Copyright © 2003, SAS Institute Inc. All rights reserved. Client Server Proteomics Genetic Markers HTS SAS Research Data Management SAS Research Data ManagementJMP Java Application Enterprise Miner SAS Technologies (WA) Text Miner SAS/Genetics 22 SAS MicroArray Solution: Bringing Sound Statistical Methods to Array Analyses ! Identify related genes with confidence ! Achieve repeatability ! Standardize across chips, experiments, lab ! Promote knowledge sharing-statistician and biologist ! Facilitate innovation and evolution Copyright © 2003, SAS Institute Inc. All rights reserved. 23 SAS MicroArray Solution: Analytical Processes Copyright © 2003, SAS Institute Inc. All rights reserved. 24 SAS MicroArray Solution: Search Copyright © 2003, SAS Institute Inc. All rights reserved. 25 SAS MicroArray Solution: Analysis Copyright © 2003, SAS Institute Inc. All rights reserved. 26 SAS MicroArray Solution: Analysis Copyright © 2003, SAS Institute Inc. All rights reserved. 27 SAS Publications in MicroArray Analysis Drosophila Example from Gibson Lab at NC State Jin et al. (2001) Nature Genetics 29: 389-395 http://statgen.ncsu.edu/ggibson/Pubs.htm Copyright © 2003, SAS Institute Inc. All rights reserved. 28 SAS and FDA http://biz.yahoo.com/prnews/030505/chm001_1.html Copyright © 2003, SAS Institute Inc. All rights reserved. 29 SAS and FDA ! Used by several FDA centers, including CBER, CDRH, CDER, CFSAN, CVM and NCTR ! FDA use of SAS: • Data mining for vaccine safety surveillance • Creating a toxicology research repository • Analyzing chronic disease data to stop the spread of diseases and biological disasters • Accessing and analyzing structured and non-structured data ! Since 1999 the FDA has specified the use of SAS file format for datasets used in electronic regulatory submissions to the FDA Copyright © 2003, SAS Institute Inc. All rights reserved. 30 In Conclusion: SAS Scientific Discovery Solutions Empower You To: ! Fail early fail cheap, to increase efficiency & minimize risk ! Perform proactive research instead of reactive to sustain competitive edge ! Promote multidisciplinary view of research programs to minimize time to market ! Improve compliance within discovery to reduce regulatory issues downstream Copyright © 2003, SAS Institute Inc. All rights reserved. 31 SUGI 28: Paper 259-28 Copyright © 2003, SAS Institute Inc. All rights reserved. 32 Live Demo of RDM and the SAS Microarray Solution tomorrow! Thank you! Copyright © 2003, SAS Institute Inc. All rights reserved. 33 Copyright © 2003, SAS Institute Inc. All rights Copyright © 2003, SAS Institute Inc. All rights reserved. reserved. 34