Medical and Health Genomics

1st Edition - June 20, 2016
Editors: Dhavendra Kumar, Stylianos Antonarakis
Language: English
Hardback ISBN:
9 7 8 - 0 - 1 2 - 4 2 0 1 9 6 - 5
eBook ISBN:
9 7 8 - 0 - 1 2 - 7 9 9 9 2 2 - 7

Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technolog… Read more

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Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management.

Medical and Health Genomics
Dedication
List of Contributors
Foreword
Preface
Chapter 1. The Human Genome
- Introduction
- Hereditary Factors, Genes, Genetics, and Genomics
- Structure and Organization of Nucleic Acids
- Human Genome Variation and Human Disease
- The Mitochondrial Genome
- Functional Genomics, Transcriptomics, and Proteomics
- Translational Human Genomics
- Human Genomics for Socioeconomic Development
- Conclusions
Chapter 2. Genomic Technologies in Medicine and Health: Past, Present, and Future
- Introduction
- Sequencing Technologies
- Computational and Information Technologies
- Applications of Genomic Technologies
- The Microbiome and Human Health
- The 1000 Genomes Project and Structural Variations in the Human Genomes
- Noninvasive Prenatal Testing by Sequencing of Cell-Free Fetal DNA in the Maternal Blood
- Prenatal Diagnosis by Whole Genome Sequencing of “Jumping Libraries”
- Postnatal Diagnosis
- Genome Sequencing in Newborn Healthcare
- Genome Sequencing in Other Research Areas
- The Cancer Genome Atlas and Cancer Genomics
- Cancer Diagnosis
- Precision Medicine
- Policy and Regulatory Issues
- Genomic Education
Chapter 3. Genomic Databases, Access Review, and Data Access Committees
- Introduction
- Underlying Principles, Policies, and Guidelines
- Examples of Controlled-Access Databases and Pertinent Data Access Committees
- Ethical and Legal Challenges
- Conclusion
Chapter 4. Diagnostic Genomics and Clinical Bioinformatics
- Introduction
- The UK100K Genomes Project: Large-Scale Implementation of Whole Genome Sequencing
- Conclusion
Chapter 5. Epigenetics and Epigenomics in Human Health and Disease
- Introduction
- Epigenotype and Regulation of Gene Expression
- Epigenotypes and Human Disease
- Epigenetic Mechanisms in Cancer
- Conclusion
Chapter 6. Mitochondrial Genomics: Emerging Paradigms and Challenges
- Introduction
- Nongenetic Diagnostics for Mitochondrial Dysfunction
- Genome Data Deluge
- DNA Testing, Next Generation Sequencing, and Mitochondrial Disease Diagnosis
- Next Generation Sequencing
- Next Generation Sequencing–Based Diagnostic Assay Design for Mitochondrial Disorders
- Translational Advancements
- Semantic Data Standards for Community Collaboration
- The Road Ahead
- Conclusions
Chapter 7. The Significance of Metabolomics in Human Health
- Introduction
- Metabolomics in Human Diseases
- Biomarker Detection
- Group Discrimination (Diagnosis)
- Inborn Metabolic Disorders
- Cancer Metabolomics
- Biomarkers for Psychiatric Diseases
- Metabolomics in Environmental and Public Health
- Human Nutrition
- Intestinal Metabolome
- Conclusions
Chapter 8. Microbial Genomics: Diagnosis, Prevention, and Treatment
- Background
- Control and Prevention
- Treatment and Diagnostics
Chapter 9. A Metagenomic Insight Into the Human Microbiome: Its Implications in Health and Disease
- Outline of the Chapter
- Introduction
- Human-Associated Microflora
- Alterations in the Healthy Human Microbiome: Association With Diseases
- The Oral Microbiome
- The Skin Microbiome
- The Gut Microbiome
- Novel Therapeutic Strategies Based on the Human-Associated Microbiome
- Conclusion
- Glossary
- List of Acronyms and Abbreviations
Chapter 10. Pharmacogenetics and Pharmacogenomics
- Introduction
- Pharmacogenomic Information in Drug Labeling
- Pharmacogenetic Study Design
- Conclusions
Chapter 11. Medical and Health Aspects of Genetics and Genomics
- Introduction
- Chromosomal Disorders
- Mendelian (Single-Gene) Disorders
- Polygenic or Multifactorial Disorders
- Mitochondrial Genetic Disorders
- Genomic Disorders
- Disease Spectrum, Biological Pathways, and Genotypes
- Summary
Chapter 12. Content and Variation of the Human Genome
- Introduction: “The Genome Anatomy”
- Special Genomic Structures Containing Selected Repeats
Chapter 13. Spectrum of Genetic Diseases and Management
- Introduction
- Molecular Approach to Genetic Disease Nosology
- From Marfan Syndrome to Fibrillinopathies
- The Emergence of RASopathies
- Making a Diagnosis of a Genetic Disorder in the Era of Molecular Pathways
- Conclusion
Chapter 14. Genomic Analysis in Clinical Practice: What Are the Challenges?
- Introduction
- Consent for Genome Testing in Clinical Practice
- Incidental Findings
- The Data Interpretation Problem
- Conclusions
Chapter 15. Genomic Perspective of Genetic Counseling
- Introduction
- Ethos and Principles of Genetic Counseling
- Elements of Genetic Counseling
- Counseling Issues
- Case Study
- Practicalities of Counseling for Genomic Tests
- Conclusion
Chapter 16. Genetics and Genomics of Reproductive Medicine and Health
- Introduction
- Female Infertility
- Male Factor Infertility
- Genetic Factors in In Vitro Fertilization
- Recent Advances in Prenatal Diagnosis
- Summary
Chapter 17. Stratified and Precision Medicine
- Introduction
- Molecular, Genetic, and Genomic Revolutions in Medicine
- Personalized Medicine
- Stratified Medicine
- Summary
Chapter 18. Teaching and Training Medicine in Genomic Era
- Introduction
- Integration of Genomics into Medical Practice
- Genomics and the Medical Education Landscape
- Approaches to Medical Genomics Education
- Conclusions and Final Comments
Chapter 19. Genomics, New Drug Development, and Precision Medicines
- Introduction
- Applying Genomics to Drug Discovery
- Applying Pharmacogenetics to Drug Development
- Predicting Safety
- Summary
Chapter 20. Cancer Genetics and Genomics
- Introduction
- Inherited Cancers: Germ Line and Somatic
- Genetic Testing in Cancer Predisposition Syndromes
- Inherited Cancer Genes
- Genetic Testing and Mainstreaming
- Conclusion
Chapter 21. The Provision of Medical and Health Genetics and Genomics in the Developing World
- Introduction
- Public Health Programs in Genetics and Genomics
- Medical Services Incorporating Genetics and Genomics
- Summary
Chapter 22. Genomic Applications in Forensic Medicine
- Introduction
- The Basics of Next Generation Sequencing
- Single Molecule Sequencing
- Next Generation Sequencing Solutions in Forensic Genetics
- Concluding Remarks
Chapter 23. Public and Population Health Genomics
- Introduction
- Breast Cancer
- Colorectal Cancer
- Crohn Disease
- Alzheimer Dementia
- Cystic Fibrosis
- Cross-Cutting Issues of Population Genomics
- Summary
Glossary: Medical and Health Genomics
Index

Life Sciences

Physical Sciences & Engineering

Social Sciences & Humanities

Health

Medical and Health Genomics

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Dhavendra Kumar

Stylianos Antonarakis

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