Description
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.- Offers applied approaches empowering a new generation of cytogenomic research using a balanced combination of classical and advanced technologies- Provides a framework for interpreting chromosome structure and how this affects the functioning of the genome in health and disease- Features chapter contributions from international leaders in the field
Table of Contents
1. A Definition for Cytogenomics – also may be called ChromosomicsSECTION 1: Technical Aspects2. Overview of yet available approaches used in Cytogenomics3. Cytogenetics4. Molecular Cytogenetics5. Molecular Combing solutions to characterize replication kinetics and genome rearrangements6. Molecular Karyotyping7. Sequencing approaches8. Optical mapping and karyo-mapping9. Application of CRISPR/Cas9 to visualize defined genomic sequences in fixed chromosomes and nuclei10. Approaches for studying epigenetic aspects of the human genomeSECTION 2: Current Cytogenomic Research11. Chromoanagenesis phenomena and their formation mechanisms12. Topologically associated domains and other gene regulatory elements13. Multilayer organization of chromosomes14. Nuclear architecture15. Nuclear stability in early embryo. Chromosomal aberrations16. Cytogenomic landscape of the human brain17. Interchromosomal interactions with meaning for disease18. Shaping of genome by long non-coding RNAs19. Repetitive elements, heteromorphisms and copy number variants20. Epigenetics
