Pharmacogenomics

1. Front Matter

   Pages i-x

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2. History and Overview

   1. Front Matter

      Pages 1-1

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   2. Pharmacogenomics

      • Werner Kalow

      Pages 3-15

3. Functional Analysis of Gene Variation

   1. Front Matter

      Pages 17-17

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   2. Transfection Assays With Allele-Specific Constructs

      • Hideto Jinno, Nobumitsu Hanioka, Toshiko Tanaka-Kagawa, Yoshiro Saito, Jun-ichi Sawada, Shogo Ozawa

      Pages 19-29

   3. Snapshot of the Allele-Specific Variation in Human Gene Expression

      • Hai Yan

      Pages 31-38

   4. Genome-Wide Analysis of Allele-Specific Gene Expression Using Oligo Microarrays

      • Maxwell P. Lee

      Pages 39-47

   5. HaploChIP

      • Julian Charles Knight

      Pages 49-60

4. Genotyping Techniques

   1. Front Matter

      Pages 61-61

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   2. Aspects Influencing Genotyping Method Selection

      • Peter Imle

      Pages 63-72

   3. Denaturing High-Performance Liquid Chromatography for Mutation Detection and Genotyping

      • Donna Lee Fackenthal, Pei Xian Chen, Soma Das

      Pages 73-96

   4. Pyrosequencing of Clinically Relevant Polymorphisms

      • Sharon Marsh, Cristi R. King, Adam A. Garsa, Howard L. McLeod

      Pages 97-114

   5. Kinetic Fluorescence-Quenching Detection Assay for Allele Frequency Estimation

      • Ming Xiao, Pui-Yan Kwok

      Pages 115-123

   6. Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry

      • Matthias Wjst, Dirk van den Boom

      Pages 125-137

   7. Fluorescence-Based Fragment Size Analysis

      • Peter Imle

      Pages 139-146

   8. Single-Nucleotide Polymorphism Genotyping in DNA Pools

      • Ian Craig, Emma Meaburn, Lee Butcher, Linzy Hill, Robert Plomin

      Pages 147-164

   9. TaqMan Genotyping of Insertion/Deletion Polymorphisms

      • Renato Robledo, William R. Beggs, Patrick K. Bender

      Pages 165-176

5. Management of Pharmacogenomic Information

   1. Front Matter

      Pages 177-177

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   2. PharmGKB

      • Caroline F. Thorn, Teri E. Klein, Russ B. Altman

      Pages 179-191

   3. Systems for the Management of Pharmacogenomic Information

      • Alexander Sturn, Michael Maurer, Robert Molidor, Zlatko Trajanoski

      Pages 193-208

Expert researchers and physician/clinicians describe in detail the newest and most commonly used technologies today in this rapidly advancing field. The authors provide readily reproducible methods for assessing the functional consequences of a certain polymorphism, evaluate the variety of genotyping platforms currently available, and discuss the management of pharmacogenomic information. Highlights include techniques for making a snapshot of the allele-specific variation in human gene expression, genome wide analysis of allele-specific expression using oligo microarrays, in vivo assays with HaploChIP, SNP genotyping in DNA pools, and PharmGKB, the pharmacogenetics and pharmacogenomics knowledge base. The methodologies for genotyping include denaturing high-performance liquid chromarography, pyrosequencing, kinetic-fluorescence detection, mass spectrometry, and TaqMan assay for insertion/deletions.

• Allele
• DNA
• SNP
• gene expression
• genes
• genetics
• genomics
• microarray
• research

• Committee on Clinical Pharmacology and Pharmacogenomics, Section of Hematology/Oncology, Department of Medicine, University of Chicago, Chicago

  Federico Innocenti

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