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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
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8
The Pains in Scientific Discovery
! Cost/ ROI
! Time/ROI
! Regulatory Compliance
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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
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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
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24
SAS MicroArray Solution: Search
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25
SAS MicroArray Solution: Analysis
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26
SAS MicroArray Solution: Analysis
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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
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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