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|a Genome plasticity in health and disease /
|c edited by Diego A. Forero, George P. Patrinos.
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| 264 |
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|a London, United Kingdom :
|b Academic Press is an imprint of Elsevier,
|c 2020.
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| 300 |
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|a 1 online resource
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| 336 |
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|a text
|b txt
|2 rdacontent
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| 337 |
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|a computer
|b c
|2 rdamedia
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| 338 |
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|a online resource
|b cr
|2 rdacarrier
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| 490 |
1 |
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|a Translational and applied genomics
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| 500 |
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|a Includes index.
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|a Online resource; title from PDF title page (ScienceDirect, viewed April 15, 2020).
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|a 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
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| 505 |
8 |
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|a 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
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| 505 |
8 |
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|a 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
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| 505 |
8 |
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|a 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?
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| 505 |
8 |
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|a 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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| 650 |
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0 |
|a Genomics.
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| 650 |
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2 |
|a Genomics
|0 (DNLM)D023281
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| 650 |
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6 |
|a G�enomique.
|0 (CaQQLa)201-0363181
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| 650 |
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|a Genomics
|2 fast
|0 (OCoLC)fst00940228
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| 700 |
1 |
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|a Forero, Diego A.,
|e editor.
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| 700 |
1 |
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|a Patrinos, George P.,
|e editor.
|
| 776 |
0 |
8 |
|i Print version:
|t Genome plasticity in health and disease.
|d London, United Kingdom : Academic Press is an imprint of Elsevier, 2020
|z 0128178191
|z 9780128178195
|w (OCoLC)1127102408
|
| 830 |
|
0 |
|a Translational and applied genomics series.
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| 856 |
4 |
0 |
|u https://sciencedirect.uam.elogim.com/science/book/9780128178195
|z Texto completo
|
