Cytogenomics and Its Significance

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.

Introduction to Cytogenetics

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

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.

Applications of Cytogenomic Techniques

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 the human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis.

Target Audience

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.

Key Features

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