Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing, epigenetic study approaches, optical mapping/karyomapping, and CRISPR-cas9 applications for cytogenomics. The book’s second half demonstrates recent applications of cytogenomic techniques, such as characterizing 3D chromosome structure across different tissue types and insights into multilayer organization of chromosomes, role of repetitive elements and noncoding RNAs in human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis.
This book is an important reference source for researchers, students, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing, as well as genetic counselors, clinical laboratory geneticists, bioethicists, and fertility specialists.
1. Cytogenomics - p. i 2. Cover - p. i 3. Title Page - p. ii 4. Copyright - p. iv 5. Table of Contents - p. iv 6. Contributors - p. xv 7. Chapter 1 A definition for cytogenomics - Which also may be called chromosomics - p. 1 8. Chapter 2 Overview of currently available approaches used in cytogenomics - p. 11 9. Chapter 3 Cytogenetics - p. 25 10. Chapter 4 Molecular cytogenetics - p. 35 11. Chapter 5 Molecular combing solutions to characterize replication kinetics and genome rearrangements - p. 47 12. Chapter 6 Molecular karyotyping - p. 73 13. Chapter 7 Sequencing approaches - p. 87 14. Chapter 8 Next-generation cytogenomics: High-resolution structural variation detection by optical genome mapping - p. 123 15. Chapter 9 Application of CRISPR/Cas9 to visualize defined genomic sequences in fixed chromosomes and nuclei - p. 147 16. Chapter 10 Approaches for studying epigenetic aspects of the human genome - p. 155 17. Chapter 11 Chromoanagenesis phenomena and their formation mechanisms - p. 213 18. Chapter 12 3D cytogenomics: Structural variation in the three-dimensional genome - p. 247 19. Chapter 13 Multilayer organization of chromosomes - p. 267 20. Chapter 14 Nuclear architecture - p. 297 21. Chapter 15 Nuclear stability in early embryo. Chromosomal aberrations - p. 307 22. Chapter 16 Cytogenomic landscape of the human brain - p. 327 23. Chapter 17 Interchromosomal interactions with meaning for disease - p. 349 24. Chapter 18 Shaping of genome by long noncoding RNAs - p. 357 25. Chapter 19 Repetitive elements, heteromorphisms, and copy number variants - p. 373 26. Chapter 20 Epigenetics - p. 389 27. Subject Index - p. 403
Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing, epigenetic study approaches, optical mapping/karyomapping, and CRISPR-cas9 applications for cytogenomics. The book’s second half demonstrates recent applications of cytogenomic techniques, such as characterizing 3D chromosome structure across different tissue types and insights into multilayer organization of chromosomes, role of repetitive elements and noncoding RNAs in human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis.
This book is an important reference source for researchers, students, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing, as well as genetic counselors, clinical laboratory geneticists, bioethicists, and fertility specialists.
1. Cytogenomics - p. i 2. Cover - p. i 3. Title Page - p. ii 4. Copyright - p. iv 5. Table of Contents - p. iv 6. Contributors - p. xv 7. Chapter 1 A definition for cytogenomics - Which also may be called chromosomics - p. 1 8. Chapter 2 Overview of currently available approaches used in cytogenomics - p. 11 9. Chapter 3 Cytogenetics - p. 25 10. Chapter 4 Molecular cytogenetics - p. 35 11. Chapter 5 Molecular combing solutions to characterize replication kinetics and genome rearrangements - p. 47 12. Chapter 6 Molecular karyotyping - p. 73 13. Chapter 7 Sequencing approaches - p. 87 14. Chapter 8 Next-generation cytogenomics: High-resolution structural variation detection by optical genome mapping - p. 123 15. Chapter 9 Application of CRISPR/Cas9 to visualize defined genomic sequences in fixed chromosomes and nuclei - p. 147 16. Chapter 10 Approaches for studying epigenetic aspects of the human genome - p. 155 17. Chapter 11 Chromoanagenesis phenomena and their formation mechanisms - p. 213 18. Chapter 12 3D cytogenomics: Structural variation in the three-dimensional genome - p. 247 19. Chapter 13 Multilayer organization of chromosomes - p. 267 20. Chapter 14 Nuclear architecture - p. 297 21. Chapter 15 Nuclear stability in early embryo. Chromosomal aberrations - p. 307 22. Chapter 16 Cytogenomic landscape of the human brain - p. 327 23. Chapter 17 Interchromosomal interactions with meaning for disease - p. 349 24. Chapter 18 Shaping of genome by long noncoding RNAs - p. 357 25. Chapter 19 Repetitive elements, heteromorphisms, and copy number variants - p. 373 26. Chapter 20 Epigenetics - p. 389 27. Subject Index - p. 403
