An up–to–date edition of the groundbreaking classic
Medical genomics is rapidly moving into mainstream medicine, with new and emerging technologies such as molecular genetic diagnostic tests and gene therapy having an unprecedented impact in clinical practice. Consequently, there is an urgent need for physicians and medical students to understand these developments and their evolving roles in the post–genomics era. This book fills that important need with a practical, comprehensive introduction to genomics with a focus on its impact on medical research and practice.
This valuable new edition has been thoroughly and meticulously updated and expanded to include the most exciting and up–to–the–minute topics in biomedical research, including all–new chapters on multilocus SNP genotyping (SNP chips), RNAi, ChIP–chip, and genomic tiling arrays. It also includes thoroughly revised coverage of topics from the previous edition, including molecular biology, biotechnology, genome databases, bioinformatics tools, human genetic variation, genetic testing, gene therapy, microarray and related gene expression technology, analysis of microarray data, pharmacogenomics and toxico–genomics, clinical research informatics, alternative splicing, cancer genomics, proteomics, consumer genomics, and genetic data privacy and ethics.
Covering concepts and techniques that are currently in use, as well as those on the cutting–edge of science, Essentials of Medical Genomics, Second Edition gives physicians and medical students everything they need to know about genomics and emerging technologies. Now 50% more comprehensive than the previous edition, and complemented with useful exercises and an appendix, this Second Edition is truly the most useful handbook available.
1 Introduction to Molecular Genetics.
The Principles of Inheritance.
Genes Are Made of DNA.
The Central Dogma.
2 Molecular Biology Technology.
Cut, Copy, and Paste.
DNA Cloning Is Copying.
PCR Is Cloning without the Bacteria.
3 Genome Databases.
Human Genetic Diseases.
A System for Naming Genes.
Model Organisms (Comparative Genomics).
Sequencing Other Genomes.
4 Bioinformatics Tools.
Patterns and Tools.
5 Human Genetic Variation.
The HapMap Project.
Research Uses of SNP Markers.
Ethnicity and Genome Diversity.
6 Genetic Testing for the Practitioner (Harry Ostrer).
Clinical Applications of Genetic Testing.
Methods of Genetic Testing.
Adequacy of Genetic Testing.
7 Gene Therapy (John G. Hay).
Strategies of Gene Therapy.
DNA Elements for Gene Expression.
Gene Delivery Systems.
Targeting Gene Delivery.
Formative Years and Initial Clinical Approaches.
Spotting versus Synthesis on the Chip.
Other Types of Arrays.
Differential Gene Expression.
Error and Reliability.
9 Analysis of Microarray Data.
Data Analysis Workflow.
10 Pharmacogenomics and Toxicogenomics.
Toxicogenomics for Drug Development.
11 Clinical Research Informatics.
Clinical Trials Management.
Data Standards and Ontologies.
Application to Medical Practice.
12 RNA Interference and MicroRNAs.
13 Alternative Splicing.
Medical Applications of Alternative Splicing.
14 Genome Tiling Chips.
Whole–Genome Transcription Profilig.
15 Cancer Genomics.
Understanding Cancer Genomics.
Copy Number Mutations.
Gene Expression Signatures.
Cancer Genome Atlas.
Protein Protein Interactions.
17 Consumer Genomics and Genealogy.
18 The Ethics of Medical Genomics.
Human Genome Diversity Project and Population Genetics.
Impact on Physicians and Researchers.
Appendix: Genetic Testing: Scientific Background for Policymakers (Amanda K. Sarata).