04656cam a2200505Ii 4500 on1150888994 OCoLC 20210423014350.0 m o d cr cnu---unuuu 200415s2020 enk o 001 0 eng d OPELS eng rda pn OPELS OCLCF YDX UKMGB EBLCP GBC048795 bnb 019759469 Uk 1150985172 1151185723 9780128178195 (print) 9780128178201 (electronic bk.) 0128178205 (electronic bk.) 0128178191 (OCoLC)1150888994 (OCoLC)1150985172 (OCoLC)1151185723 QH447 572.8/6 23 Genome plasticity in health and disease / edited by Diego A. Forero, George P. Patrinos. London, United Kingdom : Academic Press is an imprint of Elsevier, 2020. 1 online resource. text txt rdacontent computer c rdamedia online resource cr rdacarrier Translational and applied genomics Includes index. Online resource; title from PDF title page (ScienceDirect, viewed April 15, 2020). 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 Genomics. Genomics. fast (OCoLC)fst00940228 Electronic books. Electronic books. Forero, Diego A., editor. Patrinos, George P., editor. Original 0128178191 9780128178195 (OCoLC)1127102408 Translational and applied genomics series. ScienceDirect https://www.sciencedirect.com/science/book/9780128178195