Part I: Introduction to Pharmacogenomics
1. Pharmacogenomics: Historical Perspective and Current Status
Rosane Charlab and Lei Zhang
Part II: Techniques for Interrogating Variation in Human Genes and Genomes
2. Denaturing High-Performance Liquid Chromatography for Mutation Detection and Genotyping
Donna Lee Fackenthal, Pei Xian Chen, Ted Howe, and Soma Das
3. Clinical SNP Detection by the SmartAmp Method
Toshihisa Ishikawa and Yoshihide Hayashizaki
4. MALDI-TOF Mass Spectrometry
Dirk van den Boom, Matthias Wjst, and Robin Everts
5. TaqMan(R) Drug Metabolism Genotyping Assays for the Detection of Human Polymorphisms Involved in Drug Metabolism
Toinette Hartshorne
6. Pyrosequencing of Clinically Relevant Polymorphisms
Cristi R. King and Sharon Marsh
7. Pharmacogenetics Using Luminex(R) xMAP(R) Technology: Method for Developing a Custom Multiplex Single Nucleotide Polymorphism Mutation Assay
Gonnie Spierings and Sherry A. Dunbar
8. Use of Linkage Analysis, Genome-Wide Association Studies, and Next-Generation Sequencing in the Identification of Disease-Causing Mutations
Eric Londin, Priyanka Yadav, Saul Surrey, Larry J. Kricka, and Paolo Fortina
9. The GoldenGate Genotyping Assay: Custom Design, Processing, and Data Analysis
Anna González-Neira
10. Genome-Wide Gene Expression Profiling, Genotyping, and Copy Number Analyses of Acute Myeloid Leukemia Using Affymetrix GeneChips
Mathijs A. Sanders and Peter J.M. Valk
11. Epigenetic Techniques in Pharmacogenetics
Sandra G. Heil
12. Plasmid Derived External Quality Controls for Genetic Testing
Tahar van der Straaten and Henk-Jan Guchelaar
Part III: Functional Assessment of Genetic Variation: In Vitro and In Vivo Methods
13. Allelic Imbalance Assays to Quantify Allele-Specific Gene Expression and Transcription Factor Binding
Francesca Luca and Anna Di Rienzo
14. SCAN: A Systems Biology Approach to Pharmacogenomic Discovery
Eric R. Gamazon, R. Stephanie Huang, and Nancy J. Cox
15. Methods to Examine the Impact of Nonsynonymous SNPs on Protein Degradation and Function of Human ABC Transporter
Toshihisa Ishikawa, Kanako Wakabayashi-Nakao, and Hiroshi Nakagawa
16. In Vitro Identification of Cytochrome P450 Enzymes Responsible for Drug Metabolism
Zhengyin Yan and Gary W. Caldwell
17. In Vitro and In Vivo Mouse Models for Pharmacogenetic Studies
Amber Frick, Oscar Suzuki, Natasha Butz, Emmanuel Chan, and Tim Wiltshire
18. The Hydrodynamic Tail Vein Assay as a Tool for the Study of Liver Promoters and Enhancers
Mee J. Kim and Nadav Ahituv
Part IV: Tools for Translation and Implementation of Pharmacogenetic Markers
19. A Guide to the Current Web-Based Resources in Pharmacogenomics
Dylan M. Glubb, Steven W. Paugh, Ron H.N. van Schaik, and Federico Innocenti
20. PharmGKB: The Pharmacogenomics Knowledge Base
Caroline F. Thorn, Teri E. Klein, and Russ B. Altman
21. Genetic Databases in Pharmacogenomics: The Frequency of Inherited Disorders Database (FINDbase)
Marianthi Georgitsi and George P. Patrinos
22. Development of Predictive Models for Estimating Warfarin Maintenance Dose Based on Genetic and Clinical Factors
Lu Yang and Mark W. Linder
23. Evidence Based Drug Dosing and Pharmacotherapeutic Recommendations Per Genotype