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9780470140192

Essentials of Medical Genomics

by ; ;
  • ISBN13:

    9780470140192

  • ISBN10:

    0470140194

  • Edition: 2nd
  • Format: Hardcover
  • Copyright: 2008-10-13
  • Publisher: Wiley-Blackwell
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Summary

Six new chapters on vital topics of interest such as multilocus SNP genotyping (SNP chips), RNAi, ChIP-chip, and genomic tiling arrays New edition responds to reviewers' and users' desire for greater coverage-now the most useful handbook on the market! Practical, concise summary of everything about genomics and emerging technologies a busy physician or medical student should know Covers concepts and techniques that are in use in medicine now, as well as those on the cutting-edge of science relevant to medicine, from bioinformatics to DNA diagnostics and proteomics NEW: Includes chapter-end exercises, enhancing the utility of the new edition as a textbook NEW: PowerPoint slides of images available at instructor website

Author Biography

STUART M. BROWN, PhD, is on the faculty of the New York University School of Medicine, where he is Associate Professor and Director of the Bioinfor-matics Core Facility and Director of the graduate Bioinformatics course.

Table of Contents

Prefacep. xi
Introduction to Molecular Geneticsp. 1
The Principles of Inheritancep. 3
Genes Are Made of DNAp. 10
DNA Structurep. 12
The Central Dogmap. 18
Referencesp. 29
Molecular Biology Technologyp. 31
Cut, Copy, and Pastep. 31
Restriction Enzymesp. 31
DNA Cloning Is Copyingp. 33
PCR Is Cloning without the Bacteriap. 37
DNA Sequencingp. 40
Referencesp. 50
Genome Databasesp. 53
Genome Sequencingp. 53
Entrezp. 55
BLASTp. 58
Genome Annotationp. 59
Genome Browserp. 62
Human Genetic Diseasesp. 66
A System for Naming Genesp. 68
Model Organisms (Comparative Genomics)p. 69
Sequencing Other Genomesp. 74
Referencesp. 77
Bioinformatics Toolsp. 79
Patterns and Toolsp. 79
Sequence Comparisonp. 82
Multiple Alignmentp. 86
Pattern Findingp. 88
Phylogeneticsp. 94
Biotechnology Exercisep. 97
Referencesp. 101
Human Genetic Variationp. 103
Mutationp. 103
Single-Nucleotide Polymorphismsp. 107
Linkagep. 110
Multigene Diseasesp. 112
Genetic Testingp. 112
SNP Chipsp. 114
The HapMap Projectp. 115
Research Uses of SNP Markersp. 119
Ethnicity and Genome Diversityp. 120
Referencesp. 124
Genetic Testing for the Practitionerp. 127
Clinical Applications of Genetic Testingp. 128
Methods of Genetic Testingp. 131
Adequacy of Genetic Testingp. 136
Informed Consentp. 137
Genetic Counselingp. 137
Clinical Vignettesp. 138
Referencesp. 140
Gene Therapyp. 143
Historical Perspectivep. 143
Strategies of Gene Therapyp. 144
DNA Elements for Gene Expressionp. 145
Gene Delivery Systemsp. 146
Targeting Gene Deliveryp. 160
Formative Years and Initial Clinical Approachesp. 167
The Problemsp. 175
The Futurep. 177
Referencesp. 177
Microarraysp. 179
Spotting Versus Synthesis on the Chipp. 182
Other Types of Arraysp. 187
Differential Gene Expressionp. 188
Error and Reliabilityp. 195
Evolutionary Perspectivesp. 197
Referencesp. 198
Analysis of Microarray Datap. 201
Experimental Designp. 202
Data Analysis Workflowp. 205
Functional Analysisp. 215
Validationp. 218
Referencesp. 220
Pharmacogenomics and Toxicogenomicsp. 223
Pharmacogenomicsp. 223
Environmental Chemicalsp. 229
Toxicogenomics for Drug Developmentp. 231
Referencesp. 235
Clinical Research Informaticsp. 237
Clinical Databasesp. 237
Clinical Trials Managementp. 240
Data Standards and Ontologiesp. 242
Tissue Banksp. 246
Application to Medical Practicep. 248
Referencesp. 249
RNA Interference and MicroRNAsp. 251
Antisense RNAp. 252
RNA Interferencep. 253
Ribozymesp. 268
Referencesp. 268
Alternative Splicingp. 271
Exon Arraysp. 280
Medical Applications of Alternative Splicingp. 282
Referencesp. 285
Genome Tiling Chipsp. 287
Genome Chipsp. 287
Resequencing Chipsp. 288
Whole-Genome Transcription Profilingp. 289
ChIP-Chipp. 293
ArrayCGHp. 295
Referencesp. 298
Cancer Genomicsp. 301
Understanding Cancer Genomicsp. 301
Copy Number Mutationsp. 304
Gene Expression Signaturesp. 309
Cancer Genome Atlasp. 313
Referencesp. 316
Proteomicsp. 319
Protein Modificationsp. 320
Quantitative Approachesp. 321
Biomarkersp. 325
Protein Databasesp. 330
Protein-Protein Interactionsp. 331
DNA-Binding Proteinsp. 334
Structural Proteomicsp. 335
Drug Targetsp. 337
Referencesp. 337
Consumer Genomics and Genealogyp. 339
Genealogyp. 339
Nutrigenomicsp. 347
Privacy Concernsp. 352
Referencesp. 353
The Ethics of Medical Genomicsp. 355
Eugenicsp. 356
Human Genome Diversity Project and Population Geneticsp. 360
Genetic Discriminationp. 366
Impact on Physicians and Researchersp. 369
Clinical Researchp. 374
Referencesp. 376
Genetic Testing: Scientific Background for Policymakersp. 379
Glossaryp. 397
Indexp. 419
Table of Contents provided by Ingram. All Rights Reserved.

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