Pharmacogenomics : methods and protocols

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Pharmacogenomics : methods and protocols

edited by Federico Innocenti, Ron H.N. van Schaik

(Methods in molecular biology / John M. Walker, series editor, v. 1015)(Springer protocols)

Humana Press, c2013

2nd ed

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Includes bibliographical references and index

Description and Table of Contents

Description

Understanding an individual's genetic makeup is the key to creating personalized drugs with greater efficacy and safety, and pharmacogenomics aims to study the complex genetic basis of inter-patient variability in response to drug therapy. Based upon the success of its first edition, the second edition of Pharmacogenomics: Methods And Protocols aims to continue providing readers with high-quality content on the most innovative and commonly adopted technologies in the field of pharmacogenomics as presented by experts in the field. Broken into several sections, this detailed volume examines techniques for interrogating variation in human genes and genomes, functional assessment of genetic variation, both in vitro and in vivo, as well as tools for translation and implementation of pharmacogenetic markers. Written in the highly successful Methods in Molecular Biology (TM) series format, chapters include introductions to the respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and key tips on troubleshooting and avoiding known pitfalls. Comprehensive and thoroughly updated, Pharmacogenomics: Methods And Protocols, Second Edition serves as an essential reference and an invaluable source on the latest information in this field.

Table of Contents

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 Gonzalez-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 Vera H.M. Deneer and Ron H.N. van Schaik on behalf of the Dutch Pharmacogenetics Working Group

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