With Cytogenomics, Editor Thomas Liehr and leading contributors in the field demonstrate that chromosomes are crucial to 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, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jumpstart their own projects, and more effectively gather and interpret chromosomal data. Methods discussed include molecular cytogenetics, molecular karyotyping, GPCR, next generation sequencing, optical mapping, karyo-mapping, CRISPR-cas9, chromothripsis, and molecular combing. The book's second half examines recent applications of cytogenomic approaches, such as characterizing 3D chromosome-structure across different tissue types, topologically associated domains, and chromothripsis. Offers applied approaches empowering a new generation of cytogenetic research using advanced chromatography methods and state-of-the art sequencing technology 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
Cytogenetics - Past, Present, and Further Perspectives discusses events that influenced the development of cytogenetics as a specialty within biology, with special attention paid to methodological achievements developed worldwide that have driven the field forward. Improvements to the resolution of chromosome analysis followed closely the introduction of innovative analytical technologies. In that sense, this book reviews and provides a brief account of the structure of chromosomes and stresses the high structural conservation in different species with an emphasis on aspects that require further research. However, it should be kept in mind that the future of cytogenetics will likely depend on improved knowledge of chromosome structure and function.
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.
In this thoroughly revised and expanded third edition of the highly praised classic, The Principles of Clinical Cytogenetics, a panel of hands-on experts update their descriptions of the basic concepts and interpretations involved in chromosome analysis to include the many advances that have occurred in the field. Among the highlights are a full chapter devoted to advances in chromosome microarray, soon to become a standard of care in this field, as well as an update on chromosome nomenclature as reflected in ISCN 2009. Other features include an update on automation to reflect the current state of the art, an update on hematopoietic neoplasms to reflect the new WHO guidelines, and updates on all regulatory changes that have been implemented. Cutting edge and readily accessible, The Principles of Clinical Cytogenetics, Third Edition offers physicians who depend on the cytogenetics laboratory for the diagnosis of their patients, students in cytogenetics programs, graduate and medical students studying for board examinations, cytogenetics technologists, and cytogeneticists a clear understanding of what happens in the cytogenetics laboratory to facilitate accurate and timely diagnoses.
|Author||: Dongfeng Tan,Henry T. Lynch|
|Publisher||: Lippincott Williams & Wilkins|
|Release Date||: 2012-12-07|
|ISBN 10||: 1469820641|
|Pages||: 992 pages|
The role of molecular genetics in the treatment of malignancy continues to grow at an astonishing rate. Today’s subspecialized multidisciplinary approach to oncology has incorporated advances in targeted molecular therapy, prognosis, risk assessment, and prevention—all based at least in part on molecular diagnostics and imaging. Inside this cutting-edge resource, readers will explore broad, comprehensive perspectives on the current trends in molecular diagnosis of cancer and personalized cancer medicine. Authoritative discussions share insights from noted experts in cancer research, clinical trials, molecular diagnostics, personalized therapy, bioinformatics, and federal regulations. From the basic mechanisms of carcinogenesis to the most advanced molecular screening, staging, and treatment technologies, readers will discover clear and straightforward discussions directly relevant to patient diagnosis and care.
|Author||: Hoang Thi Nhu Phuong|
|Release Date||: 2019*|
|Pages||: 329 pages|
Cytogenetic; chromosome rearrangement; chromosome homeology; duckweed; Fluorescence In situ hybridization (FISH); guard cell; genome size
Analysis of the equine genome began just over a decade ago, culminating in the recent complete sequencing of the horse genome. The availability of the equine whole genome sequence represents the successful completion of an important era of equine genome analysis, and the beginning of a new era where the sequence information will catalyze the development of new tools and resources that will permit study of a range of traits that are economically important and are significant to equine health and welfare. Equine Genomics provides a timely comprehensive overview of equine genomic research. Chapters detail key accomplishments and the current state of research, as well as looking forward to possible applications of genomic technologies to horse breeding, health, and welfare. Equine Genomics delivers a global overview of the topic and is seamlessly edited by a leading equine genomics researcher. Equine Genomics is an indispensible source of information for anyone with an interest in this increasingly important field of study, including equine genomic researchers, clinicians, animal science professionals and equine field veterinarians.
This title will focus on the study of human interphase chromosomes and its relation to health and disease. Orchestrated organization and human genome function in interphase nuclei at the chromosomal level have been repeatedly shown to play a significant role in a variety of basic biological processes involved in realization and inheritance of genetic information within and between species. Current biomedical sciences of post-genomic era refocus basic and applied studies of interphase nuclei genetics and genomics with special attention to interphase chromosome behavior in health and disease. Additionally, related processes are a target of studies elucidating the role of interphase chromosome behavior during development, chromosome/DNA replication, DNA reparation etc. Studies of interphase nuclei have an appreciable impact on different areas of biomedical sciences such as cell biology, neurobiology, cancer research, developmental biology, epigenetics, cytogenetics, and medical genetics, as a whole. Moreover, development of innovative and emergent technologies to analyze interphase nuclei are closely associated with application of these techniques in clinical, diagnostic and research practice to solve reproductive problems (including infertility and spontaneous abortions), to investigate congenital malformations (including those produced by aneuploidy and other chromosome abnormalities); genetic diseases (including cardiac, immune, neurological and psychiatric diseases), and cancer. This title will serve as a source of new valuable information and promising ideas for a wide audience of professionals in biomedicine including researchers, scientists, and healthcare professionals in human genetics, cytogenetics, and developmental biology.
The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care, patient and professional education, and identification of specialty genetics services within the New York - Mid-Atlantic region. At the end of each section, a list of references is provided for additional information. Appendices can be copied for reference and offered to patients. These take-home resources are critical to helping both providers and patients understand some of the basic concepts and applications of genetics and genomics.
|Author||: Jan Sadowski,Chittaranjan Kole|
|Publisher||: CRC Press|
|Release Date||: 2016-04-19|
|ISBN 10||: 143986604X|
|Pages||: 450 pages|
Due to their diversity, vegetable Brassicas are of great economic import and offer unique opportunities to enrich our knowledge about plant growth, development, and rapid phenotypic evolution. By applying emerging genomic technologies, we may greatly increase our understanding of the Brassica biology and breeding efficiency. This volume contains 11 chapters contributed by 34 specialists with extensive experience in genetics, molecular breeding, and genomics of vegetable Brassicas. Recent achievements and new technologies presented in this book will provide support to further research the genetics and genomics of vegetable Brassica crops and facilitate their genetic improvement.
|Author||: Jason Warren Lilly|
|Release Date||: 2000|
|Pages||: 114 pages|
Molecular Diagnostics, Third Edition, focuses on the technologies and applications that professionals need to work in, develop, and manage a clinical diagnostic laboratory. Each chapter contains an expert introduction to each subject that is next to technical details and many applications for molecular genetic testing that can be found in comprehensive reference lists at the end of each chapter. Contents are divided into three parts, technologies, application of those technologies, and related issues. The first part is dedicated to the battery of the most widely used molecular pathology techniques. New chapters have been added, including the various new technologies involved in next-generation sequencing (mutation detection, gene expression, etc.), mass spectrometry, and protein-specific methodologies. All revised chapters have been completely updated, to include not only technology innovations, but also novel diagnostic applications. As with previous editions, each of the chapters in this section includes a brief description of the technique followed by examples from the area of expertise from the selected contributor. The second part of the book attempts to integrate previously analyzed technologies into the different aspects of molecular diagnostics, such as identification of genetically modified organisms, stem cells, pharmacogenomics, modern forensic science, molecular microbiology, and genetic diagnosis. Part three focuses on various everyday issues in a diagnostic laboratory, from genetic counseling and related ethical and psychological issues, to safety and quality management. Presents a comprehensive account of all new technologies and applications used in clinical diagnostic laboratories Explores a wide range of molecular-based tests that are available to assess DNA variation and changes in gene expression Offers clear translational presentations by the top molecular pathologists, clinical chemists, and molecular geneticists in the field
Make sure you are thoroughly prepared to work in a clinical lab. Rodak’s Hematology: Clinical Principles and Applications, 6th Edition uses hundreds of full-color photomicrographs to help you understand the essentials of hematology. This new edition shows how to accurately identify cells, simplifies hemostasis and thrombosis concepts, and covers normal hematopoiesis through diseases of erythroid, myeloid, lymphoid, and megakaryocytic origins. Easy to follow and understand, this book also covers key topics including: working in a hematology lab; complementary testing areas such as flow cytometry, cytogenetics, and molecular diagnostics; the parts and functions of the cell; and laboratory testing of blood cells and body fluid cells. UPDATED nearly 700 full-color illustrations and photomicrographs make it easier for you to visualize hematology concepts and show what you’ll encounter in the lab, with images appearing near their mentions in the text to minimize flipping pages back and forth. UPDATED content throughout text reflects latest information on hematology. Instructions for lab procedures include sources of possible errors along with comments. Hematology instruments are described, compared, and contrasted. Case studies in each chapter provide opportunities to apply hematology concepts to real-life scenarios. Hematology/hemostasis reference ranges are listed on the inside front and back covers for quick reference. A bulleted summary makes it easy for you to review the important points in every chapter. Learning objectives begin each chapter and indicate what you should achieve, with review questions appearing at the end. A glossary of key terms makes it easy to find and learn definitions. NEW! Additional content on cell structure and receptors helps you learn to identify these organisms. NEW! New chapter on Introduction to Hematology Malignancies provides and overview of diagnostic technology and techniques used in the lab.
Clinical Genomics provides an overview of the various next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. It presents key bioinformatic challenges and the solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. This book is also focused on the challenges of diagnostic interpretation of NGS results in a clinical setting. Its final sections are devoted to the emerging regulatory issues that will govern clinical use of NGS, and reimbursement paradigms that will affect the way in which laboratory professionals get paid for the testing. Simplifies complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists towards genomic medicine paradigm Tried and tested practice-based analysis for precision diagnosis and treatment plans Specific pipelines and meta-analysis for full range of clinically important variants
This guide discusses chromosomal abnormalities and how best to report and communicate lab findings in research and clinical settings. Providing a standard approach to writing cytogenetic laboratory reports, the guide further covers useful guidance on implementing International System for Human Cytogenetic Nomenclature in reports. Part one of the guide explores chromosomal, FISH, and microarray analysis in constitutional cytogenetic analyses, while part two looks at acquired abnormalities in cancers. Both sections provide illustrative examples of chromosomal abnormalities and how to communicate these findings in standardized laboratory reports.
Cereals make an important component of daily diet of a major section of human population, so that their survival mainly depends on the cereal grain production, which should match the burgeoning human population. Due to painstaking efforts of plant breeders and geneticists, at the global level, cereal production in the past witnessed a steady growth. However, the cereal production in the past has been achieved through the use of high yielding varieties, which have a heavy demand of inputs in the form of chemical fertilizers, herbicides and insecticides/pesticides, leading to environmental degradation. In view of this, while increasing cereal production, one also needs to keep in mind that agronomic practices used for realizing high productivity do not adversely affect the environment. Improvement in cereal production in the past was also achieved through the use of alien genetic variation available in the wild relatives of these cereals, so that conservation and sustainable use of genetic resources is another important area, which is currently receiving the attention of plant breeders. The work leading to increased cereal production in the past received strong support from basic research on understanding the cereal genomes, which need to be manipulated to yield more from low inputs without any adverse effects as above. Through these basic studies, it also became fairly apparent that the genomes of all cereals are related and were derived from the same lineage, million of years ago.
Molecular Diagnostics: 12 Tests That Changed Everything focuses on specific laboratory tests and emphasizes how the availability of these tests has altered how clinicians treat their patients. Presented as a standard outline, each chapter focuses on a specific molecular test and provides background on the test and its clinical applications. Continuing with some discussion on how the test is done, interpreted, and used clinically, each chapter then concludes with a discussion of how that test has changed the way medicine is practiced with respect to the disease or condition in question. Authored by renowned experts in the field, Molecular Diagnostics: 12 Tests That Changed Everything is a valuable resource for pathologists, pathology residents, laboratory directors, development personnel, lab medicine fellows and those working in the broad area of oncology, infectious disease and genetics.
Human Genome Informatics: Translating Genes into Health examines the most commonly used electronic tools for translating genomic information into clinically meaningful formats. By analyzing and comparing interpretation methods of whole genome data, the book discusses the possibilities of their application in genomic and translational medicine. Topics such as electronic decision-making tools, translation algorithms, interpretation and translation of whole genome data for rare diseases are thoroughly explored. In addition, discussions of current human genome databases and the possibilities of big data in genomic medicine are presented. With an updated approach on recent techniques and current human genomic databases, the book is a valuable source for students and researchers in genome and medical informatics. It is also ideal for workers in the bioinformatics industry who are interested in recent developments in the field. Provides an overview of the most commonly used electronic tools to translate genomic information Brings an update on the existing human genomic databases that directly impact genome interpretation Summarizes and comparatively analyzes interpretation methods of whole genome data and their application in genomic medicine
With sweeping revisions throughout, the new edition of Urologic Surgical Pathology equips you to accurately diagnose specimens of the entire urinary tract and male reproductive system plus the adrenal glands. Comprehensive in scope, this title begins with a look at normal anatomy and histology for each organ system...followed by discussions of the pathology of congenital anomalies, inflammations, non-neoplastic diseases and neoplasia. Practical guidance in daily urological pathology sign-out and the latest recommended diagnostic approaches — with an emphasis on clinicopathologic and radiographic-pathologic correlations — makes this a true diagnostic decision-making medical reference. A consistent format enables you to locate critical information quickly, and more than 1600 high-quality illustrations — most in full color — make diagnosis even easier. Consult this title on your favorite e-reader, conduct rapid searches, and adjust font sizes for optimal readability. Rely on the practice-proven experience of today’s authorities to identify and diagnose with confidence. Confirm your diagnostic suspicions by comparing your findings to more than 1600 color images and color graphics. Quickly locate the specific information you need through an abundance of tables, diagrams and flowcharts; boxed lists of types and causes of diseases; differential diagnosis; characteristic features of diseases; complications; classifications; and staging. Stay current with the latest information on: differential diagnosis for all tumor types encountered in urological surgical pathology practice; urologic tumor specimen handling and reporting guidelines; new entities and updated classification schemes; and newer immunohistochemical and genetic diagnostic methods. Develop targeted therapy specific to a particular patient’s problem based on key molecular aspects of disease, especially in relevance to targeted therapy/personalized medicine. Provide the clinician with the most accurate diagnostic and prognostic indicators, by incorporating the latest classification and staging systems in your reports. Deepen your understanding of new diagnostic biomarkers and their utility in differential diagnosis.