Cytogenomics
Cytogenomics

Author: Thomas Liehr

Publisher: Academic Press

Published: 2021-05-25

Total Pages: 430

ISBN-13: 0128235802

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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

The AGT Cytogenetics Laboratory Manual
The AGT Cytogenetics Laboratory Manual

Author: Marilyn S. Arsham

Publisher: John Wiley & Sons

Published: 2017-04-24

Total Pages: 1216

ISBN-13: 1119061229

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Cytogenetics is the study of chromosome morphology, structure, pathology, function, and behavior. The field has evolved to embrace molecular cytogenetic changes, now termed cytogenomics. Cytogeneticists utilize an assortment of procedures to investigate the full complement of chromosomes and/or a targeted region within a specific chromosome in metaphase or interphase. Tools include routine analysis of G-banded chromosomes, specialized stains that address specific chromosomal structures, and molecular probes, such as fluorescence in situ hybridization (FISH) and chromosome microarray analysis, which employ a variety of methods to highlight a region as small as a single, specific genetic sequence under investigation. The AGT Cytogenetics Laboratory Manual, Fourth Edition offers a comprehensive description of the diagnostic tests offered by the clinical laboratory and explains the science behind them. One of the most valuable assets is its rich compilation of laboratory-tested protocols currently being used in leading laboratories, along with practical advice for nearly every area of interest to cytogeneticists. In addition to covering essential topics that have been the backbone of cytogenetics for over 60 years, such as the basic components of a cell, use of a microscope, human tissue processing for cytogenetic analysis (prenatal, constitutional, and neoplastic), laboratory safety, and the mechanisms behind chromosome rearrangement and aneuploidy, this edition introduces new and expanded chapters by experts in the field. Some of these new topics include a unique collection of chromosome heteromorphisms; clinical examples of genomic imprinting; an example-driven overview of chromosomal microarray; mathematics specifically geared for the cytogeneticist; usage of ISCN’s cytogenetic language to describe chromosome changes; tips for laboratory management; examples of laboratory information systems; a collection of internet and library resources; and a special chapter on animal chromosomes for the research and zoo cytogeneticist. The range of topics is thus broad yet comprehensive, offering the student a resource that teaches the procedures performed in the cytogenetics laboratory environment, and the laboratory professional with a peer-reviewed reference that explores the basis of each of these procedures. This makes it a useful resource for researchers, clinicians, and lab professionals, as well as students in a university or medical school setting.

The Principles of Clinical Cytogenetics
The Principles of Clinical Cytogenetics

Author: Steven L. Gersen

Publisher: Springer

Published: 1999-03-17

Total Pages: 580

ISBN-13:

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Enlightening and accessible, The Principles of Clinical Cytogenetics constitutes an indispensable reference for today's physicians who depend on the cytogenetics laboratory for the diagnosis of their patients.

Plant Cytogenetics and Cytogenomics
Plant Cytogenetics and Cytogenomics

Author: Tony Heitkam

Publisher: Springer Nature

Published: 2023-07-21

Total Pages: 563

ISBN-13: 1071632264

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This book provides an up-to-date account of the most widespread methods used by specialists in the field of plant cytogenetics and the emerging field of cytogenomics that will likely soon be adapted by more labs. From the classical basic karyological approaches to the most recent genomics-informed and computational methods, the volume explores genome size and ploidy level estimation, chromosome fixation, preparation, and manipulation, banding and staining techniques, in situ hybridization, as well as numerous methods that integrate cytogenetics with bioinformatics and computational genomics. Written for the highly successful Methods in Molecular Biology series, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step and readily reproducible laboratory protocols, as well as tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Plant Cytogenetics and Cytogenomics: Methods and Protocols serves as an ideal resource for plant scientists interested in molecular and evolutionary biology, breeding, systematics, and plant -omics in general.

Iscn 2020
Iscn 2020

Author: Jean McGowan-Jordan

Publisher:

Published: 2020-12-31

Total Pages: 164

ISBN-13: 9783318067064

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This reprint of 'Cytogenetic and Genome Research' contains contributions discussing the subject in-depth. 'Cytogenetic and Genome Research' is a well-respected, international peer-reviewed journal in genetics.

Cytogenetics in Plant Breeding
Cytogenetics in Plant Breeding

Author: J. Sybenga

Publisher: Springer Science & Business Media

Published: 2012-12-06

Total Pages: 479

ISBN-13: 3642840833

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An introductory discussion of basic chromosome structure and function preceeds the main text on the application of cytogenetic approaches to the analysis of the manipulation of both the genetic make-up and the genetic transmission system of plant breeding material. Analysis using light and electron microscopy, segregations and molecular techniques, yields information for assessing the material before and after manipulation. Much attention is given to quantitative methods. Manipulation not only involves the construction of specific genotypes, but also chromosomal transmission systems. Although analysis and manipulation in the somatic cycle are considered, the focus is on the generative cycle, with emphasis on analysis and subsequent segregation of specifically constructed material. The book is intended for plant breeders and other scientists interested in the analysis and manipulation of breeding material at the chromosomal level. Comparisons with molecular and cell biological approaches are made, and the potential of the various methods is evaluated.

ISCN 2013
ISCN 2013

Author: International Standing Committee on Human Cytogenetic Nomenclature

Publisher: Karger Medical and Scientific Publishers

Published: 2013

Total Pages: 148

ISBN-13: 3318022535

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This publication extends the now classic system of human cytogenetic nomenclature prepared by an expert committee and published in collaboration with Cytogenetic and Genome Research' since 1963. Revised and finalized by the ISCN Committee and its advisors at a meeting in Seattle, Wash., in April 2012, the ISCN 2013 updates, revises and incorporates all previous human cytogenetic nomenclature recommendations into one systematically organized publication that supersedes all previous ISCN recommendations. There are several new features in ISCN 2013: an update of the microarray nomenclature, many more illustrative examples of uses of nomenclature in all sections some definitions including chromothripsis and duplication a new chapter for nomenclature that can be used for any region-specific assay. The ISCN 2013 is an indispensable reference volume for human cytogeneticists, technicians and students for the interpretation and communication of human cytogenetic nomenclature.

ISCN
ISCN

Author: International Standing Committee on Human Cytogenomic Nomenclature

Publisher: Karger Medical Scientific

Published: 2016

Total Pages: 0

ISBN-13: 9783318058574

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The 2016 edition of the International System for Human Cytogenomic Nomenclature (ISCN 2016) offers standard nomenclature that is used to describe any genomic rearrangement identified by techniques ranging from karyotyping to FISH, microarray, various region specific assays, and DNA sequencing. Suggestions from the international cytogenetics community have been reviewed by the Standing Committee, an international group of experts, nominated by their peers. This updated edition offers: * many new examples, particularly for microarray and region specific assays * trackable changes in the main text compared to the previous edition for easier identification * a nomenclature standard to facilitate the description of chromosome rearrangements characterized by DNA sequencing developed through collaboration between the Human Genome Variation Society (HGVS) and ISCN to accommodate the increased use of sequencing technologies in the characterization of chromosomal abnormalities The ISCN 2016 is an indispensable reference volume for human cytogeneticists, molecular geneticists, technicians, and students for the interpretation and communication of human cytogenetic and molecular cytogenomic nomenclature. After a long collaboration with Cytogenetic and Genome Research, ISCN is now again a part of this leading journal on chromosome and genome research, combining the day-to-day business with the latest findings.