Essentials of Medical Genomics (eBook)

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.

Preface.

1 Introduction to Molecular Genetics.

The Principles of Inheritance.

Genes Are Made of DNA.

DNA Structure.

The Central Dogma.

References.

2 Molecular Biology Technology.

Cut, Copy, and Paste.

Restriction Enzymes.

DNA Cloning Is Copying.

PCR Is Cloning without the Bacteria.

DNA Sequencing.

References.

3 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.

4 Bioinformatics Tools.

Patterns and Tools.

Sequence Comparison.

Multiple Alignment.

Pattern Finding.

Phylogenetics.

Biotechnology Exercise.

References.

5 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.

6 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.

7 Gene Therapy (John G. Hay).

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.

8 Microarrays.

Spotting versus Synthesis on the Chip.

Other Types of Arrays.

Differential Gene Expression.

Error and Reliability.

Evolutionary Perspectives.

References.

9 Analysis of Microarray Data.

Experimental Design.

Data Analysis Workflow.

Functional Analysis.

Validation.

References.

10 Pharmacogenomics and Toxicogenomics.

Pharmacogenomics.

Environmental Chemicals.

Toxicogenomics for Drug Development.

References.

11 Clinical Research Informatics.

Clinical Databases.

Clinical Trials Management.

Data Standards and Ontologies.

Tissue Banks.

Application to Medical Practice.

References.

12 RNA Interference and MicroRNAs.

Antisense RNA.

RNA Interference.

Ribozymes.

References.

13 Alternative Splicing.

Exon Arrays.

Medical Applications of Alternative Splicing.

References.

14 Genome Tiling Chips.

Genome Chips.

Resequencing Chips.

Whole-Genome Transcription Profilig.

ChIP-chip.

ArrayCGH.

References.

15 Cancer Genomics.

Understanding Cancer Genomics.

Copy Number Mutations.

Gene Expression Signatures.

Cancer Genome Atlas.

References.

16 Proteomics.

Protein Modifications.

Quantitative Approaches.

Biomarkers.

Protein Databases.

Protein-Protein Interactions.

DNA-Binding Proteins.

Structural Proteomics.

Drug Targets.

References.

17 Consumer Genomics and Genealogy.

Genealogy.

Nutrigenomics.

Privacy Concerns.

References.

18 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 Testing: Scientific Background for Policymakers (Amanda K. Sarata).

Glossary.

Index.