Medical and Health Genomics

 
 
Academic Press
  • 1. Auflage
  • |
  • erschienen am 4. Juni 2016
  • |
  • 358 Seiten
 
E-Book | ePUB mit Adobe DRM | Systemvoraussetzungen
E-Book | PDF mit Adobe DRM | Systemvoraussetzungen
978-0-12-799922-7 (ISBN)
 

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.


  • Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management
  • Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study
  • Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management
  • Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems
  • Englisch
  • Saint Louis
  • |
  • USA
Elsevier Science
  • 7,99 MB
978-0-12-799922-7 (9780127999227)
0127999221 (0127999221)
weitere Ausgaben werden ermittelt
  • Front Cover
  • Medical and Health Genomics
  • Dedication
  • Medical and Health Genomics
  • Copyright
  • Contents
  • List of Contributors
  • Foreword
  • Preface
  • GENOMIC MEDICINE AND HEALTHCARE
  • 1 - The Human Genome
  • INTRODUCTION
  • HEREDITARY FACTORS, GENES, GENETICS, AND GENOMICS
  • STRUCTURE AND ORGANIZATION OF NUCLEIC ACIDS
  • HUMAN GENOME VARIATION AND HUMAN DISEASE
  • Measuring Genetic and Genomic Variation
  • Genome Variation and Human Disease
  • THE MITOCHONDRIAL GENOME
  • FUNCTIONAL GENOMICS, TRANSCRIPTOMICS, AND PROTEOMICS
  • TRANSLATIONAL HUMAN GENOMICS
  • HUMAN GENOMICS FOR SOCIOECONOMIC DEVELOPMENT
  • CONCLUSIONS
  • REFERENCES
  • 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 Pediatric Microbiome
  • The Microbiome and Oral Health
  • The Microbiome and Gastrointestinal 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
  • Development of Targeted Therapeutics for Genetic?Disorders
  • Development of Targeted Therapeutics for Cancers
  • Genomic Profiling and Counseling
  • The Precision Medicine Initiative
  • POLICY AND REGULATORY ISSUES
  • GENOMIC EDUCATION
  • REFERENCES
  • 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
  • European Genome-phenome Archive
  • Database of Genotypes and Phenotypes
  • ETHICAL AND LEGAL CHALLENGES
  • Consent
  • Oversight Mechanisms on Downstream?Uses and Enforceability
  • Data Producers and Data Users' Interests?and Benefits
  • CONCLUSION
  • ACKNOWLEDGMENTS
  • REFERENCES
  • 4 - Diagnostic Genomics and Clinical Bioinformatics
  • INTRODUCTION
  • Current Clinical Practice: Diagnosis
  • Chromosomal Microarrays
  • Single Gene Testing
  • Gene Panel Testing
  • Exome Sequencing
  • Whole Genome Sequencing
  • Diagnostic Testing Strategy
  • Inherited Cardiac Conditions
  • Hypertrophic Cardiomyopathy
  • Aortopathies
  • Intellectual Disability
  • Deciphering Developmental Disorders
  • THE UK100K GENOMES PROJECT: LARGE-SCALE IMPLEMENTATION OF WHOLE GENOME SEQUENCING
  • Clinical Bioinformatics
  • Clinical Phenotyping
  • Bioinformatics Pipelines
  • Reference Genome
  • Interpretation of DNA Sequence Variants
  • Protein-Altering Variants
  • Variants Causing Aberrant Messenger RNA Splicing
  • Nucleotide Conservation
  • Inheritance and Mutation Type
  • Segregation Analysis
  • Mutational Mechanism and Variant Spectrum
  • De Novo Mutations
  • Functional Evidence
  • Databases and Literature
  • Literature Databases
  • Online Mendelian Inheritance in Man
  • Incidental Findings
  • Data Sharing
  • CONCLUSION
  • REFERENCES
  • 5 - Epigenetics and Epigenomics in Human Health and Disease
  • INTRODUCTION
  • EPIGENOTYPE AND REGULATION OF GENE EXPRESSION
  • EPIGENOTYPES AND HUMAN DISEASE
  • Trinucleotide Repeats and Human Disease
  • Friedreich Ataxia
  • Frataxin Gene Repression in Friedreich Ataxia
  • Myotonic Dystrophy
  • Fragile X Syndrome
  • Facioscapulohumeral Dystrophy
  • Immunodeficiency, Centromeric Region Instability, and Facial Anomalies Syndrome: Genetic Mutations Causing Methylation
  • Rett Syndrome
  • a-Thalassemia X-Linked Mental Retardation Syndrome
  • EPIGENETIC MECHANISMS IN CANCER
  • CONCLUSION
  • ACKNOWLEDGMENT
  • REFERENCES
  • 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
  • REFERENCES
  • 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
  • ACKNOWLEDGMENT
  • REFERENCES
  • 8 - Microbial Genomics: Diagnosis, Prevention, and Treatment
  • BACKGROUND
  • CONTROL AND PREVENTION
  • TREATMENT AND DIAGNOSTICS
  • REFERENCES
  • 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
  • Diseases Associated With Variation in the Gut Microbial Community
  • Inflammatory Bowel Disease
  • Obesity
  • Type 2 Diabetes Mellitus
  • Major Depressive Disorder
  • Cardiovascular Diseases
  • Other Diseases
  • NOVEL THERAPEUTIC STRATEGIES BASED ON THE HUMAN-ASSOCIATED MICROBIOME
  • CONCLUSION
  • GLOSSARY
  • LIST OF ACRONYMS AND ABBREVIATIONS
  • REFERENCES
  • 10 - Pharmacogenetics and Pharmacogenomics
  • INTRODUCTION
  • PHARMACOGENOMIC INFORMATION IN DRUG LABELING
  • Pharmacogenetic Guidelines
  • PHARMACOGENETIC STUDY DESIGN
  • Clinical Areas
  • Cardiology
  • Oral Anticoagulants
  • Antiplatelet Agents
  • Lipid-Lowering Drugs
  • Antihypertensive Agents
  • ß-Blockers
  • Antiarrhythmics
  • Oncology
  • Germline DNA Mutations
  • Somatic DNA Mutations
  • Infection and Inflammation
  • Rheumatology
  • Inflammatory Bowel Disease
  • Immune-Mediated Adverse Drug Reactions
  • Psychiatry
  • CONCLUSIONS
  • REFERENCES
  • 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
  • Disorders of Genomic Imprinting: Epigenetic Diseases
  • Disorders of the Genome Architecture
  • Disorders With Trinucleotide (Triplet) Repeats
  • Complex Genomic Diseases
  • DISEASE SPECTRUM, BIOLOGICAL PATHWAYS, AND GENOTYPES
  • SUMMARY
  • REFERENCES
  • 12 - Content and Variation of the Human Genome
  • INTRODUCTION: "THE GENOME ANATOMY"
  • Protein-Coding Genes
  • Size of Protein-Coding Genes
  • Noncoding, RNA-Only Genes
  • Ribosomal RNA (rRNA) Genes ~650-900
  • Transfer RNA ~500 (49 Types)
  • Small Nuclear RNA ~1912
  • Small Nucleolar RNA ~978
  • Micro RNAs 3828
  • Long Noncoding RNAs 14,470
  • Other Noncoding RNAs
  • Regions of Transcription Regulation
  • Conserved Elements Not Included in the Previous Categories
  • Repetitive Elements
  • Segmental Duplications
  • SPECIAL GENOMIC STRUCTURES CONTAINING SELECTED REPEATS
  • Human Centromeres
  • Human Telomeres
  • Short Arms of Human Acrocentric Chromosomes
  • Mitochondrial Genome
  • Genomic Variability
  • Single Nucleotide Polymorphisms
  • Short Sequence Repeats
  • Insertion/Deletion Polymorphisms
  • Copy Number Variants
  • Inversions
  • Mixed Polymorphisms
  • Genome Variation as a Laboratory Tool to Understand the Genome
  • REFERENCES
  • 13 - Spectrum of Genetic Diseases and Management
  • INTRODUCTION
  • MOLECULAR APPROACH TO GENETIC DISEASE NOSOLOGY
  • FROM MARFAN SYNDROME TO FIBRILLINOPATHIES
  • Diagnosis of Marfan Syndrome
  • Differential Diagnosis
  • Management of Marfan Syndrome
  • Treatment
  • THE EMERGENCE OF RASOPATHIES
  • Malignancy Risk in RASopathies
  • MAKING A DIAGNOSIS OF A GENETIC DISORDER IN THE ERA OF?MOLECULAR PATHWAYS
  • CONCLUSION
  • REFERENCES
  • 14 - Genomic Analysis in Clinical Practice: What Are the Challenges?
  • INTRODUCTION
  • CONSENT FOR GENOME TESTING IN CLINICAL PRACTICE
  • INCIDENTAL FINDINGS
  • Management of Incidental Findings
  • Uncertainties About for Whom the Result has Clinical?Utility, and When
  • Uncertainties About the Clinical Validity of a Test
  • Uncertain Incidental Findings
  • THE DATA INTERPRETATION PROBLEM
  • What Constitutes a Result in Genomic Medicine?
  • Diagnostic Versus Population Screening
  • CONCLUSIONS
  • REFERENCES
  • 15 - Genomic Perspective of Genetic Counseling
  • INTRODUCTION
  • ETHOS AND PRINCIPLES OF GENETIC COUNSELING
  • ELEMENTS OF GENETIC COUNSELING
  • COUNSELING ISSUES
  • Uncertainty
  • Confidentiality and Privacy of Genomic Data
  • Data Sharing and the Undiagnosed Patient
  • Reanalyzing Stored Genomic Data
  • Sharing Genomic Data for Advancement of Knowledge
  • Secondary Findings
  • Family Communication
  • The "Healthy Genome"
  • CASE STUDY
  • PRACTICALITIES OF COUNSELING FOR GENOMIC TESTS
  • Genetic Information Is Key
  • Patient Autonomy Must Be Supported
  • Patient Emotions Make a Difference
  • Relationship Is Integral to Genetic Counseling
  • CONCLUSION
  • ACKNOWLEDGMENT
  • REFERENCES
  • 16 - Genetics and Genomics of Reproductive Medicine and Health
  • INTRODUCTION
  • FEMALE INFERTILITY
  • Congenital Anomalies of the Reproductive Tract
  • Disorders of Abnormal Ovulation
  • Premature Ovarian Failure
  • Genetics of Premature Ovarian Failure
  • Familial Premature Ovarian Failure
  • Fragile X Syndrome Type A and FMR1
  • Autosomal Abnormalities in Premature Ovarian Failure
  • Polycystic Ovarian Syndrome
  • Disorders of the Endometrium
  • Endometriosis
  • MALE FACTOR INFERTILITY
  • Congenital Anomalies of the Male Reproductive Tract
  • Molecular Genetics of Male Factor Infertility
  • Epigenetics and Epigenomics in Male Factor Infertility
  • Mitochondrial Genes in Male Factor Infertility
  • New Genomic Applications in Male Factor Infertility
  • GENETIC FACTORS IN IN VITRO FERTILIZATION
  • Preimplantation Genetic Testing and Screening
  • Preimplantation Genetic Diagnosis
  • RECENT ADVANCES IN PRENATAL DIAGNOSIS
  • Aneuploidy (Trisomy 21) Pregnancy
  • Cell-Free Fetal DNA
  • SUMMARY
  • REFERENCES
  • 17 - Stratified and Precision Medicine
  • INTRODUCTION
  • MOLECULAR, GENETIC, AND GENOMIC REVOLUTIONS IN MEDICINE
  • PERSONALIZED MEDICINE
  • STRATIFIED MEDICINE
  • Challenges for Stratified Medicine
  • The Future of Stratified Medicine
  • SUMMARY
  • REFERENCES
  • 18 - Teaching and Training Medicine in Genomic Era
  • INTRODUCTION
  • INTEGRATION OF GENOMICS INTO MEDICAL PRACTICE
  • The Practice of Genomic Medicine
  • Prevention
  • Diagnosis
  • Therapy
  • The Roles of the Geneticist and Nongeneticist Health Providers
  • Competencies Required in Genomic Medicine
  • GENOMICS AND THE MEDICAL EDUCATION LANDSCAPE
  • Premedical Education
  • Medical School
  • Residency Education
  • Postgraduate Education
  • APPROACHES TO MEDICAL GENOMICS EDUCATION
  • Medical School
  • Residency Education
  • Continuing Medical Education
  • CONCLUSIONS AND FINAL COMMENTS
  • REFERENCES
  • 19 - Genomics, New Drug Development, and Precision Medicines
  • INTRODUCTION
  • The Drug Discovery and Development Process
  • Preclinical Testing
  • Clinical Development
  • Phase I
  • Phase II
  • Phase III
  • Phase IV
  • APPLYING GENOMICS TO DRUG DISCOVERY
  • Choosing the Best Drug Targets
  • Complex Trait Genetics
  • Single Gene Disorders/Traits
  • Drug-Specific Targets Approach
  • Effect of Genetic Variation on Compound Screening
  • APPLYING PHARMACOGENETICS TO DRUG DEVELOPMENT
  • Pharmacodynamic Variability
  • Pharmacokinetic Variability
  • PREDICTING SAFETY
  • Predicting Type B Adverse Events
  • Predicting Type A Adverse Events
  • Individualized Therapy: An Integrated Response
  • Improving Disease Classification: Stratified Medicines
  • Adverse Drug Reactions
  • SUMMARY
  • REFERENCES
  • 20 - Cancer Genetics and Genomics
  • INTRODUCTION
  • INHERITED CANCERS: GERM LINE AND SOMATIC
  • Oncogenes, Tumor Suppressor Genes, and the Identification?of Cancer Predisposition Genes
  • Identifying Cancer Predisposition Genes
  • High, Medium, and Smaller Risks
  • GENETIC TESTING IN CANCER PREDISPOSITION SYNDROMES
  • Risk Information as Therapy
  • Cancer Surveillance
  • Prophylactic Surgery
  • Pharmacological Management
  • INHERITED CANCER GENES
  • Phenotypic Effects of Mutations in Cancer?Predisposition Genes
  • Genotype-Phenotype Correlation
  • GENETIC TESTING AND MAINSTREAMING
  • Genetic Testing and Next Generation Sequencing
  • Reasons for Nondetection of Causative Genetic Changes Through Clinical Testing
  • CONCLUSION
  • REFERENCES
  • 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
  • REFERENCES
  • 22 - Genomic Applications in Forensic Medicine
  • INTRODUCTION
  • THE BASICS OF NEXT GENERATION SEQUENCING
  • SINGLE MOLECULE SEQUENCING
  • NEXT GENERATION SEQUENCING SOLUTIONS IN FORENSIC?GENETICS
  • Short Tandem Repeat Sequencing
  • The First Commercial Next Generation Sequencing Kits for Forensic Genetics
  • New Frontiers in Forensic Genetics
  • CONCLUDING REMARKS
  • ACKNOWLEDGMENT
  • REFERENCES
  • 23 - Public and Population Health Genomics
  • INTRODUCTION
  • BREAST CANCER
  • COLORECTAL CANCER
  • Bronchial Asthma
  • CROHN DISEASE
  • ALZHEIMER DEMENTIA
  • CYSTIC FIBROSIS
  • CROSS-CUTTING ISSUES OF POPULATION GENOMICS
  • SUMMARY
  • REFERENCES
  • Glossary: Medical and Health Genomics1
  • ACRONYMS AND ABBREVIATIONS
  • TERMS AND PHRASES
  • Index
  • A
  • B
  • C
  • D
  • E
  • F
  • G
  • H
  • I
  • J
  • K
  • L
  • M
  • N
  • O
  • P
  • Q
  • R
  • S
  • T
  • U
  • V
  • W
  • X
  • Y
  • Z
  • Back Cover

Dateiformat: EPUB
Kopierschutz: Adobe-DRM (Digital Rights Management)

Systemvoraussetzungen:

Computer (Windows; MacOS X; Linux): Installieren Sie bereits vor dem Download die kostenlose Software Adobe Digital Editions (siehe E-Book Hilfe).

Tablet/Smartphone (Android; iOS): Installieren Sie bereits vor dem Download die kostenlose App Adobe Digital Editions (siehe E-Book Hilfe).

E-Book-Reader: Bookeen, Kobo, Pocketbook, Sony, Tolino u.v.a.m. (nicht Kindle)

Das Dateiformat EPUB ist sehr gut für Romane und Sachbücher geeignet - also für "fließenden" Text ohne komplexes Layout. Bei E-Readern oder Smartphones passt sich der Zeilen- und Seitenumbruch automatisch den kleinen Displays an. Mit Adobe-DRM wird hier ein "harter" Kopierschutz verwendet. Wenn die notwendigen Voraussetzungen nicht vorliegen, können Sie das E-Book leider nicht öffnen. Daher müssen Sie bereits vor dem Download Ihre Lese-Hardware vorbereiten.

Weitere Informationen finden Sie in unserer E-Book Hilfe.


Dateiformat: PDF
Kopierschutz: Adobe-DRM (Digital Rights Management)

Systemvoraussetzungen:

Computer (Windows; MacOS X; Linux): Installieren Sie bereits vor dem Download die kostenlose Software Adobe Digital Editions (siehe E-Book Hilfe).

Tablet/Smartphone (Android; iOS): Installieren Sie bereits vor dem Download die kostenlose App Adobe Digital Editions (siehe E-Book Hilfe).

E-Book-Reader: Bookeen, Kobo, Pocketbook, Sony, Tolino u.v.a.m. (nicht Kindle)

Das Dateiformat PDF zeigt auf jeder Hardware eine Buchseite stets identisch an. Daher ist eine PDF auch für ein komplexes Layout geeignet, wie es bei Lehr- und Fachbüchern verwendet wird (Bilder, Tabellen, Spalten, Fußnoten). Bei kleinen Displays von E-Readern oder Smartphones sind PDF leider eher nervig, weil zu viel Scrollen notwendig ist. Mit Adobe-DRM wird hier ein "harter" Kopierschutz verwendet. Wenn die notwendigen Voraussetzungen nicht vorliegen, können Sie das E-Book leider nicht öffnen. Daher müssen Sie bereits vor dem Download Ihre Lese-Hardware vorbereiten.

Weitere Informationen finden Sie in unserer E-Book Hilfe.


Download (sofort verfügbar)

77,29 €
inkl. 19% MwSt.
Download / Einzel-Lizenz
ePUB mit Adobe DRM
siehe Systemvoraussetzungen
PDF mit Adobe DRM
siehe Systemvoraussetzungen
Hinweis: Die Auswahl des von Ihnen gewünschten Dateiformats und des Kopierschutzes erfolgt erst im System des E-Book Anbieters
E-Book bestellen

Unsere Web-Seiten verwenden Cookies. Mit der Nutzung dieser Web-Seiten erklären Sie sich damit einverstanden. Mehr Informationen finden Sie in unserem Datenschutzhinweis. Ok