Download or read book ISCN written by International Standing Committee on Human Cytogenomic Nomenclature and published by Karger Medical Scientific. This book was released on 2016 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Iscn 2020 written by Jean McGowan-Jordan and published by . This book was released on 2020-12-31 with total page 164 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book ISCN 2013 written by International Standing Committee on Human Cytogenetic Nomenclature and published by Karger Medical and Scientific Publishers. This book was released on 2013 with total page 148 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book The AGT Cytogenetics Laboratory Manual written by Marilyn S. Arsham and published by John Wiley & Sons. This book was released on 2017-04-24 with total page 1216 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book The Principles of Clinical Cytogenetics written by Steven Gersen and published by Humana Press. This book was released on 2010-10-12 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive, in-depth explanation of the basic concepts and interpretations involved in chromosome analysis, a critical technique in the diagnosis, prognosis, and monitoring of a wide variety of conditions. Designed for the health care provider who must use and explain the often complex results of these tests, this book details in understandable language the various applications of chromosome analysis in clinical settings and the clinical significance of abnormal results. In addition, the book offers an informative tutorial on basic laboratory procedures (including microscopy, photomicrography, automation, computerized karyotyping, and QA/QC), reports on novel synergistic technologies such as FISH, and discusses issues in genetic counseling. Enlightening and accessible, The Principles of Clinical Cytogenetics constitutes an indispensable reference for today's physicians and managed care practitioners who depend on the cytogenetics laboratory for the diagnosis of their patients' ailments.
Download or read book ISCN 2009 written by International Standing Committee on Human Cytogenetic Nomenclature and published by Karger Medical Scientific. This book was released on 2009 with total page 158 pages. Available in PDF, EPUB and Kindle. Book excerpt: This publication updates the now classic system of human cytogenetic nomenclature prepared by an expert committee and published in collaboration with Cytogenetic and Genome Research (formerly: Cytogenetics and Cell Genetics) since 1963.Revised and finalized by the ISCN Committee and its advisors at a meeting in Vancouver, B.C., in October 2008, the ISCN 2009 updates, revises and incorporates all previous human cytogenetic nomenclature recommendations into one systematically organized publication that supersedes all previous ISCN recommendations.What is new in ISCN 2009? - New idiograms at all band levels have been revised based upon higher-resolution analysis of banded chromosomes- The neoplasia nomenclature has been revised to allow the use of idem or stemline/sideline notation to describe clonal evolution- New examples reflecting unique situations are included in most chapters- The nomenclature for microarray results has been revised to accommodate any platform and provides detailed and short systems of description- A nomenclature for MLPA results has been introduced ISCN 2009 is thus an indispensable reference for human cytogeneticists, technicians and students for the interpretation and communication of human cytogenetic nomenclature.
Download or read book Sustainability in Higher Education written by J. Paulo Davim and published by Chandos Publishing. This book was released on 2015-08-24 with total page 144 pages. Available in PDF, EPUB and Kindle. Book excerpt: Support in higher education is an emerging area of great interest to professors, researchers and students in academic institutions. Sustainability in Higher Education provides discussions on the exchange of information between different aspects of sustainability in higher education. This book includes chapter contributions from authors who have provided case studies on various areas of education for sustainability. focus on sustainability present studies in aspects related with higher education explores a variety of educational aspects from an sustainable perspective
Download or read book Practical Genetic Counseling for the Laboratory written by McKinsey L. Goodenberger and published by Oxford University Press. This book was released on 2017-02-28 with total page 304 pages. Available in PDF, EPUB and Kindle. Book excerpt: An essential manual for the future of genetic counseling Genetic counselors possess the important set of skills necessary to face the unique challenges encountered within the laboratory. As the primary liaisons between genetic technologies and patient-facing clinicians, lab counselors must have equal competency in genetic testing protocols, interpretation, and communication of clinical recommendations. Practical Genetic Counseling for the Laboratory is the first book to codify the theory and practice of laboratory genetic counseling in an accessible and comprehensive format. With contributions from laboratorians, geneticists, and genetic counselors from more than 30 institutions, it offers a manual of standards and practices that will benefit students and counselors at any career stage. Topical coverage includes: · Interpretation of genetic tests, including those specific to biochemical genetics, cytogenetics, molecular genetics, and prenatal screening · Practical guidelines for test utilization, test development, and laboratory case management · Elements for education and training in the laboratory · Counseling skills, including the consideration of ethical dilemmas, nonclinical considerations, including sales and publishing For students in this important sector of the industry or for counselors already working in it, Practical Genetic Counseling for the Laboratory offers readers a standardized approach to a dynamic subject matter that will help shape the field's future.
Download or read book Cytogenomics written by Thomas Liehr and published by Academic Press. This book was released on 2021-05-25 with total page 430 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book Cytogenetics and Molecular Cytogenetics written by Thomas Liehr and published by CRC Press. This book was released on 2022-12-07 with total page 422 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomic technologies provide the means of diagnosis and management of many human diseases. Without insights from cytogenetics, correct interpretation of modern high-throughput results is difficult, if not impossible. This book summarizes applications of cytogenetics and molecular cytogenetics for students, clinicians and researchers in genetics, genomics and diagnostics. The book combines the state-of-the-art knowledge and practical expertise from leading researchers and clinicians and provides a comprehensive overview of current medical and research applications of many of these technologies. KEY FEATURES • Provides clear summaries of fluorescence in situ hybridization technologies and others • Comprehensively covers established and emerging methods • Chapters from an international team of leading researchers • Useful for students, researchers and clinicians
Download or read book Gardner and Sutherland s Chromosome Abnormalities and Genetic Counseling written by R. J. M. Gardner and published by Oxford University Press. This book was released on 2018 with total page 729 pages. Available in PDF, EPUB and Kindle. Book excerpt: Preceded by Chromosome abnormalities and genetic counseling / R.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer. c2012.
Download or read book Gardner and Sutherland s Chromosome Abnormalities and Genetic Counseling written by R.J. McKinlay Gardner and published by Oxford University Press. This book was released on 2018-02-06 with total page 634 pages. Available in PDF, EPUB and Kindle. Book excerpt: Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.
Download or read book Atlas of Hematopathology written by Faramarz Naeim and published by Academic Press. This book was released on 2018-06-22 with total page 984 pages. Available in PDF, EPUB and Kindle. Book excerpt: Atlas of Hematopathology: Morphology, Immunophenotype, Cytogenetics, and Molecular Approaches, Second Edition, will appeal to both a wide range of people undergoing training in a variety of medical fields and practicing non-hematopathologists. For clinicians, fellows and residents, correct diagnosis (and therefore correct treatment) of diseases depends on a strong understanding of the molecular basis for the disease, making this book a crucial resource. This atlas contains hundreds of high-quality color images that mirror the findings that fellows and clinicians encounter in practice. In addition, it provides information in a quick, simple and user-friendly manner, attracting both those in training and non- experts. Residents, fellows, practicing clinicians, and researchers in pathology, hematology and hematology/oncology will find this a useful resource. Covers both non-neoplastic hematopathology and neoplastic hematopathology in all organs and tissues Demonstrates results of important complementary diagnostic tests, such as immunophenotyping (immunohistochemical stains and flow cytometry), karyotyping, FISH and DNA/molecular studies Provides tables to summarize the most important clinicopathological features Saves clinicians and researchers time in quickly accessing the very latest details on the diverse clinical and scientific aspects of hematopathology
Download or read book Essentials of Cytogenetic and Molecular Cytogenetic Laboratory Testing written by Usha Dutta and published by Cambridge Scholars Publishing. This book was released on 2022-03-22 with total page 265 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is a compilation of cytogenetic and molecular cytogenetic techniques that are routinely performed in a molecular cytogenetic laboratory. It provides a summary of chromosomal disorders and mechanisms, along with pictures and details of laboratory procedures. Due to the simplicity of the language used, the principles and techniques discussed here are easily understandable. The book also details modern techniques, which will be of interest for geneticists, academicians, scientists, and clinical geneticists aspiring to establish a molecular cytogenetic lab. It also serves to help geneticists understand each protocol as it is written in a self-explanatory manner for standardizing techniques in their laboratory.
Download or read book Molecular Diagnostics written by E. van Pelt-Verkuil and published by Springer. This book was released on 2019-06-03 with total page 457 pages. Available in PDF, EPUB and Kindle. Book excerpt: The books Molecular Diagnostics Part 1 and 2 provide a comprehensive and practical overview of the state-of-the-art molecular biological diagnostic strategies that are being used in a wide variety of disciplines. The editors and experts in their respective fields have combined their knowledge to write these two books. Many years of experience in the development, application and quality control of molecular diagnostic methods is reflected herewith. Molecular Diagnostics Part 1 is dedicated to the theoretical backgrounds of the technologies often applied in molecular diagnostics, in which nucleic acid amplification methods (such as real-time PCR), sequencing and bioinformatics are the basic tools. The assay design and -development, combined with items of trouble-shooting are described in detail. As a foundation of reliable molecular diagnostic assays, the quality control required for validation, implementation and performance of molecular diagnostic assays is thoroughly discussed. This book also provides extensive information for those working with molecular techniques in a wide variety of research applications using conventional and real-time PCR technology, Sanger and high throughput sequencing techniques, and bioinformatics. Molecular Diagnostics Part 2 highlights the applications of the molecular diagnostic methods in the various diagnostic laboratories, comprising: - Clinical microbiology - Clinical chemistry - Clinical genetics - Clinical pathology - Molecular hematopathology - Veterinary health - Plant health - Food safety Both full-colour and well-illustrated books are particularly valuable for students, clinicians, scientists and other professionals who are interested in (designing) molecular diagnostic methods and for those who wish to broaden their knowledge on the current molecular biological revolution. The information in the books highlights the trend of the integration of multiple (clinical) disciplines into one universal molecular laboratory.
Download or read book Medical Image Computing and Computer Assisted Intervention MICCAI 2022 written by Linwei Wang and published by Springer Nature. This book was released on 2022-09-15 with total page 782 pages. Available in PDF, EPUB and Kindle. Book excerpt: The eight-volume set LNCS 13431, 13432, 13433, 13434, 13435, 13436, 13437, and 13438 constitutes the refereed proceedings of the 25th International Conference on Medical Image Computing and Computer-Assisted Intervention, MICCAI 2022, which was held in Singapore in September 2022. The 574 revised full papers presented were carefully reviewed and selected from 1831 submissions in a double-blind review process. The papers are organized in the following topical sections: Part I: Brain development and atlases; DWI and tractography; functional brain networks; neuroimaging; heart and lung imaging; dermatology; Part II: Computational (integrative) pathology; computational anatomy and physiology; ophthalmology; fetal imaging; Part III: Breast imaging; colonoscopy; computer aided diagnosis; Part IV: Microscopic image analysis; positron emission tomography; ultrasound imaging; video data analysis; image segmentation I; Part V: Image segmentation II; integration of imaging with non-imaging biomarkers; Part VI: Image registration; image reconstruction; Part VII: Image-Guided interventions and surgery; outcome and disease prediction; surgical data science; surgical planning and simulation; machine learning – domain adaptation and generalization; Part VIII: Machine learning – weakly-supervised learning; machine learning – model interpretation; machine learning – uncertainty; machine learning theory and methodologies.
Download or read book 69th AACC Annual Scientific Meeting Abstract eBook written by American Association for Clinical Chemistry and published by CTI Meeting Technology. This book was released on 2017-06-30 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
