Pharmacogenomics: Methods and Protocols Book

Part I. History and Overview

Pharmacogenomics: Historical Perspective and Current Status

Werner Kalow

Part II. Functional Analysis of Gene Variation

Transfection Assays With Allele-Specific Constructs: Functional Analysis of UDP-Glucuronosyltransferase Variants

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

Snapshot of the Allele-Specific Variation in Human Gene Expression

Hai Yan

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

Maxwell P. Lee

HaploChIP: An In Vivo Assay

Julian Charles Knight

Part III. Genotyping Techniques

Aspects Influencing Genotyping Method Selection

Peter Imle

Denaturing High-Performance Liquid Chromatography for Mutation Detection and Genotyping

Donna Lee Fackenthal, Pei Xian Chen, and Soma Das

Pyrosequencing of Clinically Relevant Polymorphisms

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

Kinetic Fluorescence-Quenching Detection Assay for Allele Frequency Estimation

Ming Xiao and Pui-Yan Kwok

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

Matthias Wjst and Dirk van den Boom

Fluorescence-Based Fragment Size Analysis

Peter Imle

Single-Nucleotide Polymorphism Genotyping in DNA Pools

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

TaqMan Genotyping of Insertion/Deletion Polymorphisms

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

Part IV. Management of Pharmacogenomic Information

PharmGKB: The Pharmacogenetics and Pharmacogenomics Knowledge Base

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

Systems for the Management of Pharmacogenomic Information

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

Index