An Introduction to Genomics and SAS Scientific Discovery Solutions

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1 An Introduction to Genomics and SAS Scientific Discovery Solutions Dr Karen M Miller Product Manager Bioinformatics SAS EMEA Copyright 2003, SAS Institute Inc. All rights reserved. 1

2 Overview! SAS Life Sciences! Genomics at SAS! Introduction to Scientific Discovery Solutions Copyright 2003, SAS Institute Inc. All rights reserved. 2

3 SAS Core Competencies Copyright 2003, SAS Institute Inc. All rights reserved. 3

4 SAS Core Competencies Copyright 2003, SAS Institute Inc. All rights reserved. 4

5 SAS Biomedical Intelligent Enterprise CONTINUOUS VALIDATION Patent expiration: 20 years SALES & DISCOVERY DEVELOPMENT MANUFACTURING MARKETING SAS Research Data Management SAS Drug Development SAS Process Intelligence IntelliVisor for Pharma SAS Microarray Solution COLLABORATIVE PROCESS Customer Relationship Management for Pharma Strategic Performance Management Supplier Relationship Management Human Capital Management Patent Discovery Service ADMINISTRATION 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

6 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

7 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

8 The Need in Scientific Discovery! Data Volumes! Data Visualisation! Data Analysis! Data Regulation Copyright 2003, SAS Institute Inc. All rights reserved. 8

9 The Pains in Scientific Discovery! Cost/ ROI! Time/ROI! Regulatory Compliance Copyright 2003, SAS Institute Inc. All rights reserved. 9

10 The Pains in Scientific Discovery Cost to Develop Drug (PhRMA 2002 Pharmaceutical industry Profile) Copyright 2003, SAS Institute Inc. All rights reserved. 10

11 The Pains in Scientific Discovery Time: approx 14.5 years Traditional linear process Identify drug target Lead discovery Lead Optimization Drug discovery (6-12 yrs) Target validation Drug development (4-6 yrs) Pre-Clinical studies Development Moving to concurrent processes Drug development (3 yrs) Drug discovery (3-5 yrs) Identify drug target Process Goal: Identify failures early Lead discovery Target validation Lead Optimization Pre-Clinical studies Development Copyright 2003, SAS Institute Inc. All rights reserved. 11

12 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

13 Overview! SAS Life Sciences! Genomics at SAS! Introduction to Scientific Discovery Solutions Copyright 2003, SAS Institute Inc. All rights reserved. 13

14 Scientific Discovery and the Central Dogma Transcriptomics Proteomics Copyright 2003, SAS Institute Inc. All rights reserved. 14

15 Computer Science Statistics & Mining SAS Genomics Genetics DNA Sequencers Transcriptomics RNA Microarrays Microtechnological Breakthroughs Proteomics Proteins Mass Spectrometers Copyright 2003, 2002, SAS Institute Inc. Inc. All All rights rights reserved. reserved. 15

16 Genetic Marker Data Copyright 2003, SAS Institute Inc. All rights reserved. 16

17 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

18 SAS /Genetics Copyright 2003, SAS Institute Inc. All rights reserved. 18

19 Computer Science Statistics & Mining SAS Genomics Genetics DNA Sequencers Transcriptomics RNA Microarrays Microtechnological Breakthroughs Proteomics Proteins Mass Spectrometers Copyright 2003, 2002, SAS Institute Inc. Inc. All All rights rights reserved. reserved. 19

20 Scientific Discovery Process: Standardizing innovation Design experiment Experimental Design Generate hypothesis Run experiment Engines AP Library Refine analysis Sharing and Accessibility Analyze Data Visualization Security Share analysis Compare with known data Centralized repository Analytical Processes (AP) Copyright 2003, SAS Institute Inc. All rights reserved. 20

21 SAS Scientific Discovery Solutions: Optimizing Knowledge Exchange Statisticians Biologists Toxicologists Geneticists Anticipate issues Identify synergies Improve success SAS Scientific Discovery Warehousing Analytics Visualization Managers Directors Executives Project 1 Project 2 Project 3 Geneticists Protein Scientists Chemists Toxicologists Copyright 2003, SAS Institute Inc. All rights reserved. 21

22 SAS Scientific Discovery Solutions Data engines Data models Visual n Future solutions Analysis SAS Microarray Solution Proteomics Genetic Markers HTS Cohesive solutions for discovery research Client Server SAS Research Data Management SAS Research Data Management Java Application SAS Technologies (WA) Extendable with other SAS technologies & solutions Enterprise Miner Text Miner SAS/Genetics JMP Copyright 2003, SAS Institute Inc. All rights reserved. 22

23 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

24 SAS MicroArray Solution: Analytical Processes Copyright 2003, SAS Institute Inc. All rights reserved. 24

25 SAS MicroArray Solution: Search Copyright 2003, SAS Institute Inc. All rights reserved. 25

26 SAS MicroArray Solution: Analysis Copyright 2003, SAS Institute Inc. All rights reserved. 26

27 SAS MicroArray Solution: Analysis Copyright 2003, SAS Institute Inc. All rights reserved. 27

28 SAS Publications in MicroArray Analysis Drosophila Example from Gibson Lab at NC State Jin et al. (2001) Nature Genetics 29: Copyright 2003, SAS Institute Inc. All rights reserved. 28

29 SAS and FDA Copyright 2003, SAS Institute Inc. All rights reserved. 29

30 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

31 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

32 SUGI 28: Paper Copyright 2003, SAS Institute Inc. All rights reserved. 32

33 Live Demo of RDM and the SAS Microarray Solution tomorrow! Thank you! Copyright 2003, SAS Institute Inc. All rights reserved. 33

34 Copyright 2003, 2003, SAS Institute SAS Institute Inc. All rights Inc. reserved. All rights reserved. 34

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