Essentials of Medical Genomics

, by Brown, Stuart M.; Hay, John G.; Ostrer, Harry

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ISBN: 9780470140192 | 0470140194
Cover: Hardcover
Copyright: 10/13/2008

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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

Preface	p. xi
Introduction to Molecular Genetics	p. 1
The Principles of Inheritance	p. 3
Genes Are Made of DNA	p. 10
DNA Structure	p. 12
The Central Dogma	p. 18
References	p. 29
Molecular Biology Technology	p. 31
Cut, Copy, and Paste	p. 31
Restriction Enzymes	p. 31
DNA Cloning Is Copying	p. 33
PCR Is Cloning without the Bacteria	p. 37
DNA Sequencing	p. 40
References	p. 50
Genome Databases	p. 53
Genome Sequencing	p. 53
Entrez	p. 55
BLAST	p. 58
Genome Annotation	p. 59
Genome Browser	p. 62
Human Genetic Diseases	p. 66
A System for Naming Genes	p. 68
Model Organisms (Comparative Genomics)	p. 69
Sequencing Other Genomes	p. 74
References	p. 77
Bioinformatics Tools	p. 79
Patterns and Tools	p. 79
Sequence Comparison	p. 82
Multiple Alignment	p. 86
Pattern Finding	p. 88
Phylogenetics	p. 94
Biotechnology Exercise	p. 97
References	p. 101
Human Genetic Variation	p. 103
Mutation	p. 103
Single-Nucleotide Polymorphisms	p. 107
Linkage	p. 110
Multigene Diseases	p. 112
Genetic Testing	p. 112
SNP Chips	p. 114
The HapMap Project	p. 115
Research Uses of SNP Markers	p. 119
Ethnicity and Genome Diversity	p. 120
References	p. 124
Genetic Testing for the Practitioner	p. 127
Clinical Applications of Genetic Testing	p. 128
Methods of Genetic Testing	p. 131
Adequacy of Genetic Testing	p. 136
Informed Consent	p. 137
Genetic Counseling	p. 137
Clinical Vignettes	p. 138
References	p. 140
Gene Therapy	p. 143
Historical Perspective	p. 143
Strategies of Gene Therapy	p. 144
DNA Elements for Gene Expression	p. 145
Gene Delivery Systems	p. 146
Targeting Gene Delivery	p. 160
Formative Years and Initial Clinical Approaches	p. 167
The Problems	p. 175
The Future	p. 177
References	p. 177
Microarrays	p. 179
Spotting Versus Synthesis on the Chip	p. 182
Other Types of Arrays	p. 187
Differential Gene Expression	p. 188
Error and Reliability	p. 195
Evolutionary Perspectives	p. 197
References	p. 198
Analysis of Microarray Data	p. 201
Experimental Design	p. 202
Data Analysis Workflow	p. 205
Functional Analysis	p. 215
Validation	p. 218
References	p. 220
Pharmacogenomics and Toxicogenomics	p. 223
Pharmacogenomics	p. 223
Environmental Chemicals	p. 229
Toxicogenomics for Drug Development	p. 231
References	p. 235
Clinical Research Informatics	p. 237
Clinical Databases	p. 237
Clinical Trials Management	p. 240
Data Standards and Ontologies	p. 242
Tissue Banks	p. 246
Application to Medical Practice	p. 248
References	p. 249
RNA Interference and MicroRNAs	p. 251
Antisense RNA	p. 252
RNA Interference	p. 253
Ribozymes	p. 268
References	p. 268
Alternative Splicing	p. 271
Exon Arrays	p. 280
Medical Applications of Alternative Splicing	p. 282
References	p. 285
Genome Tiling Chips	p. 287
Genome Chips	p. 287
Resequencing Chips	p. 288
Whole-Genome Transcription Profiling	p. 289
ChIP-Chip	p. 293
ArrayCGH	p. 295
References	p. 298
Cancer Genomics	p. 301
Understanding Cancer Genomics	p. 301
Copy Number Mutations	p. 304
Gene Expression Signatures	p. 309
Cancer Genome Atlas	p. 313
References	p. 316
Proteomics	p. 319
Protein Modifications	p. 320
Quantitative Approaches	p. 321
Biomarkers	p. 325
Protein Databases	p. 330
Protein-Protein Interactions	p. 331
DNA-Binding Proteins	p. 334
Structural Proteomics	p. 335
Drug Targets	p. 337
References	p. 337
Consumer Genomics and Genealogy	p. 339
Genealogy	p. 339
Nutrigenomics	p. 347
Privacy Concerns	p. 352
References	p. 353
The Ethics of Medical Genomics	p. 355
Eugenics	p. 356
Human Genome Diversity Project and Population Genetics	p. 360
Genetic Discrimination	p. 366
Impact on Physicians and Researchers	p. 369
Clinical Research	p. 374
References	p. 376
Genetic Testing: Scientific Background for Policymakers	p. 379
Glossary	p. 397
Index	p. 419
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Essentials of Medical Genomics

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