Genome plasticity in health and disease /

Detalles Bibliográficos
Clasificación:Libro Electrónico
Otros Autores: Forero, Diego A. (Editor ), Patrinos, George P. (Editor )
Formato: Electrónico eBook
Idioma:Inglés
Publicado: London, United Kingdom : Academic Press is an imprint of Elsevier, 2020.
Colección:Translational and applied genomics series.
Temas:
Genomics.
Genomics
G�enomique.
Acceso en línea:Texto completo
Tabla de Contenidos:
  • Front Cover
  • Genome Plasticity in Health and Disease
  • Genome Plasticity in Health and Disease
  • Copyright
  • Contents
  • Contributors
  • 1
  • Impact of genome plasticity on health and disease
  • 1. Introduction
  • 2. Plasticity of the human genome
  • 3. Plasticity of the human genome and diseases
  • 4. Conclusions
  • Acknowledgments
  • References
  • 1
  • Plasticity of the human genome
  • 2
  • Overview of the human genome
  • 1. Introduction
  • 1.1 Early history (1910-1971): Discovery of DNA
  • 1.2 Rise of knowledge about DNA: 1950-1968
  • 1.3 DNA sequencing: 1977 to the present
  • 2. The human genome
  • 2.1 Intervening sequences in the human genome
  • 2.2 Noncoding sequences in human genes
  • 2.3 Chromosomal organization
  • 2.4 Tools used in genetics and genomics
  • 2.5 DNA sequencing as a potent tool for the study of human genomes
  • 3. Human genomics and the future of healthcare
  • 3.1 Genomic medicine, precision medicine, and systems medicine
  • 3.2 Relevance of the study of human genomics in clinical practice
  • 4. Conclusion
  • References
  • 3
  • Methods for epigenomic analyses: DNA methylation
  • 1. Epigenetics
  • 2. DNA methylation
  • 3. DNA treatment prior to DNA methylation analysis
  • 3.1 Fragmentation with restriction endonucleases
  • 3.2 Affinity enrichment
  • 3.3 Bisulfite conversion
  • 4. Methods for analysis of DNA methylation
  • 4.1 Global DNA methylation profiling
  • 4.2 Locus-specific assays
  • 4.3 Genome-wide DNA methylation mapping
  • 4.3.1 Microarray-based methods
  • 4.3.2 NGS-based methods
  • 5. Challenges
  • 6. Conclusions
  • References
  • 4
  • Genomic databases
  • 1. Introduction
  • 2. Reference genomes, genes, and annotations
  • 3. Searching genomic databases
  • 3.1 Genome browsers
  • 3.2 Karyotype bands and chromosomal coordinates
  • 3.3 Sequences and motifs
  • 3.4 Multiple and complex genomic database searches
  • 3.5 Application programming interfaces
  • 4. Genomic variations
  • 5. Perspectives
  • Acknowledgments
  • Conflict of interest statement
  • References
  • 5
  • Genomic variability: germline, somatic, and de novo variants
  • 1. Introduction
  • 2. Overview of germline variation and genetic architecture
  • 3. De novo mutations
  • 4. Somatic mosaicism
  • 5. Conclusions
  • References
  • 6
  • Founder variations in isolated populations
  • 1. What is a population isolate?
  • 2. Founder effects and linkage disequilibrium
  • 3. Genetic risk variant detection in isolated populations
  • 3.1 Identification of founder variations using linkage disequilibrium
  • 3.2 Validity of findings from isolated populations
  • 4. Mendelian disorders in isolated populations
  • 4.1 Diastrophic dysplasia
  • 4.2 Progressive myoclonus epilepsy
  • 4.3 Chloride diarrhea
  • 5. Complex disorders in isolated populations
  • 6. Conclusion
  • References
  • 7
  • DNA methylation
  • 1. Introduction
  • 2. Mechanisms of DNA methylation and demethylation
  • 3. DNA methylation in human diseases

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