Essentials of Medical Genomics, 2nd Edition

by Stuart M. Brown (NYU School of Medicine, New York, New York, USA); John G. Hay; Harry Ostrer

• ISBN13: 9780470334492
• ISBN10: 0470334495
• Format: eBook
• Copyright: 2008-12-01
• Publisher: Wiley-Blackwell

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

Table of Contents

Preface

Introduction to Molecular Genetics

The Principles of Inheritance

Genes Are Made of DNA

DNA Structure

The Central Dogma

References

Molecular Biology Technology

Cut, Copy, and Paste

Restriction Enzymes

DNA Cloning Is Copying

PCR Is Cloning without the Bacteria

DNA Sequencing

References

Genome Databases

Genome Sequencing

Entrez

BLAST

Genome Annotation

Genome Browser

Human Genetic Diseases

A System for Naming Genes

Model Organisms (Comparative Genomics)

Sequencing Other Genomes

References

Bioinformatics Tools

Patterns and Tools

Sequence Comparison

Multiple Alignment

Pattern Finding

Phylogenetics

Biotechnology Exercise

References

Human Genetic Variation

Mutation

Single-Nucleotide Polymorphisms

Linkage

Multigene Diseases

Genetic Testing

SNP Chips

The HapMap Project

Research Uses of SNP Markers

Ethnicity and Genome Diversity

References

Genetic Testing for the Practitioner (Harry Ostrer)

Clinical Applications of Genetic Testing

Methods of Genetic Testing

Adequacy of Genetic Testing

Informed Consent

Genetic Counseling

Clinical Vignettes

References

Gene Therapy

Historical Perspective

Strategies of Gene Therapy

DNA Elements for Gene Expression

Gene Delivery Systems

Targeting Gene Delivery

Formative Years and Initial Clinical Approaches

The Problems

The Future

References

Microarrays

Spotting versus Synthesis on the Chip

Other Types of Arrays

Differential Gene Expression

Error and Reliability

Evolutionary Perspectives

References

Analysis of Microarray Data

Experimental Design

Data Analysis Workflow

Functional Analysis

Validation

References

Pharmacogenomics and Toxicogenomics

Pharmacogenomics

Environmental Chemicals

Toxicogenomics for Drug Development

References

Clinical Research Informatics

Clinical Databases

Clinical Trials Management

Data Standards and Ontologies

Tissue Banks

Application to Medical Practice

References

RNA Interference and MicroRNAs

Antisense RNA

RNA Interference

Ribozymes

References

Alternative Splicing

Exon Arrays

Medical Applications of Alternative Splicing

References

Genome Tiling Chips

Genome Chips

Resequencing Chips

Whole-Genome Transcription Profilig

ChIP-chip

ArrayCGH

References

Cancer Genomics

Understanding Cancer Genomics

Copy Number Mutations

Gene Expression Signatures

Cancer Genome Atlas

References

Proteomics

Protein Modifications

Quantitative Approaches

Biomarkers

Protein Databases

Protein-Protein Interactions

DNA-Binding Proteins

Structural Proteomics

Drug Targets

References

Consumer Genomics and Genealogy

Genealogy

Nutrigenomics

Privacy Concerns

References

The Ethics of Medical Genomics

Eugenics

Human Genome Diversity Project and Population Genetics

Genetic Discrimination

Impact on Physicians and Researchers

Clinical Research

References

Appendix: Genetic Testi<$$$>

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