Essentials of Medical Genomics -- Contents -- 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 -- Clinical Applications of Genetic Testing -- Methods of Genetic Testing -- Adequacy of Genetic Testing -- Informed Consent -- Genetic Counseling -- Clinical Vignettes -- References -- 7 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 -- 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 Profiling -- 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 -- Glossary -- Index.