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.
Mammalian Cytogenetics and Related Problems in Radiobiology covers the proceedings of a symposium held in Sao Paulo and Rio de Janeiro, Brazil in October 1962. The book focuses on the processes, methodologies, and approaches involved in mammalian cytogenetics and radiobiology. The selection first offers information on the nutrition and metabolism of cultured mammalian cells, blood technique and human chromosomes, and DNA replication in human chromosomes. Discussions focus on replication of heterochromatin in the human male; difficulties involved in the study of DNA synthesis in human chromosomes; and perspectives for future research. The text then ponders on the progress in the utilization of cell culture techniques for studies in mammalian and human somatic cell genetics and modification of radiation effects in the Ehrlich ascites tumor by oxygen or sodium azide. The manuscript examines experimental studies on mammalian chromosome aberrations, chromosome breakage in vitro, and survival of human cells in tissue culture after irradiation with densely and sparsely ionizing radiation. The text then elaborates on the observations on the morphology and behavior of normal human chromosomes, human pachytene chromosomes, and abnormalities of autosomes. The selection is a vital reference for readers interested in mammalian cytogenetics and radiobiology.
Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. As technology-driven approaches like FISH and aCGH have yet to achieve the promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, and therapeutic assessment. Knowledge of the rare but recurrent rearrangements unfamiliar to practitioners saves time and money for molecular cytogeneticists and genetics counselors, helping to distinguish benign from harmful CG-CNV. It also supports them in deciding which molecular cytogenetics tools to deploy.
This is the first book to be devoted entirely to the application and development of flow techniques in cytogenetics. It provides comprehensive information on the use of flow cytometry and sorting for chromosome classification and purification. Cytogenetics and molecular biologists will find this book an invaluable reference source.
Current Topics in Developmental Biology provides a comprehensive survey of the major topics in the field of developmental biology. The volumes are valuable to researchers in animal and plant development, as well as to students and professionals who want an introduction to cellular and molecular mechanisms of development. The series has recently passed its 30-year mark, making it the longest-running forum for contemporary issues in developmental biology. This volume contains nine important contributions from leading minds in developmental biology.
Advances in Genetics continues to present articles that are of interest to both human and molecular geneticists. Volume 37 offers a single chapter, written by I.F. Zhimulev, in which Dr. Zhimulev undertakes thelaborious task of presenting an in-depth and detailed account of the various aspects of heterochromatin organization in the mitotic and interphase polytene chromosomes. It also includes details concerning the organization of heterochromatin at high resolution are also analyzed.
This book appears at a time when molecular cytogenetics is positioned to make a significant impact upon evolutionary studies, enabling problems of chromosomal structure and change to be critically assessed. It is an up-to-date and comprehensive survey of the cytogenetics of a major class of animals, including all three amphibian orders, with chapters authored by international leaders in the field.Amphibian Cytogenetics and Evolution will be of interest to classical and molecular cytogeneticists, systematicists, evolutionary biologists, herpetologists, and anyone using amphibians in genetic research.