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.
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