Overview

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.

Full Product Details

Author:   Federico Innocenti
Publisher:   Humana Press Inc.
Imprint:   Humana Press Inc.
Edition:   Softcover reprint of hardcover 1st ed. 2005
Volume:   311
Dimensions:   Width: 15.20cm , Height: 1.20cm , Length: 22.90cm
Weight:   0.395kg
ISBN:  

9781617375712

ISBN 10:   1617375713
Pages:   214
Publication Date:   19 November 2010
Audience:   Professional and scholarly ,  Professional & Vocational
Format:   Paperback
Publisher's Status:   Active
Availability:   Manufactured on demand  
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Table of Contents

History and Overview.- Pharmacogenomics.- Functional Analysis of Gene Variation.- Transfection Assays With Allele-Specific Constructs.- Snapshot of the Allele-Specific Variation in Human Gene Expression.- Genome-Wide Analysis of Allele-Specific Gene Expression Using Oligo Microarrays.- HaploChIP.- Genotyping Techniques.- Aspects Influencing Genotyping Method Selection.- Denaturing High-Performance Liquid Chromatography for Mutation Detection and Genotyping.- Pyrosequencing of Clinically Relevant Polymorphisms.- Kinetic Fluorescence-Quenching Detection Assay for Allele Frequency Estimation.- Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry.- Fluorescence-Based Fragment Size Analysis.- Single-Nucleotide Polymorphism Genotyping in DNA Pools.- TaqMan Genotyping of Insertion/Deletion Polymorphisms.- Management of Pharmacogenomic Information.- PharmGKB.- Systems for the Management of Pharmacogenomic Information.

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