Cases In Laboratory Genetics And Genomics Lgg Practice
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Cases In Laboratory Genetics And Genomics Lgg Practice
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Author : Xia Li
language : en
Publisher: Elsevier
Release Date : 2023-06-05
Cases In Laboratory Genetics And Genomics Lgg Practice written by Xia Li and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-06-05 with Science categories.
Cases in Laboratory Genetics and Genomics (LGG) Practice instructs readers in the lab-based diagnosis of genetic conditions, including inborn and acquired disorders using cytogenetics and molecular genetics technologies. This entirely case-based book covers a wide range of genetic cases, from prenatal to postnatal and oncology genetic disorders which lab professionals and geneticists encounter daily in the diagnostic field. Each disorder discussed includes a section on clinical background, clinical indication, tests ordered, laboratory tests performed, test results, results with interpretations, future testing and recommendations, and references. The book will help lab professionals understand and navigate clinical cases using an integrative approach, and thoroughly understand the methodologies and interpretations involved in high complexity genetic testing. Presents clinical cases illustrating the complexity of the genetic abnormalities and successful diagnoses Discusses the technologies best suited to detect DNA mutations, copy number variations, and chromosome or RNA translocations Aids lab professionals in ensuring tests ordered are optimal for clinical indications Prepares trainees for the American Board of Medical Genetics and Genomics (ABMGG) LGG course and exam
Diagnostic Molecular Pathology In Practice
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Author : Iris Schrijver
language : en
Publisher: Springer Science & Business Media
Release Date : 2011-09-09
Diagnostic Molecular Pathology In Practice written by Iris Schrijver and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-09-09 with Medical categories.
This entirely case-based book covers a broad cross-section of the practical issues frequently encountered in the day-to-day activities of a molecular genetic pathologist. The book is divided into four sections on the principal areas addressed in molecular genetic pathology (MGP): inherited diseases, hematopathology, solid tumors, and infectious diseases. The topics covered by the cases in each section include test selection, qualitative and quantitative laboratory techniques, test interpretation, prognostic and therapeutic considerations, ethical considerations, technical troubleshooting, and result reporting. This book will be ideal for trainees in MGP and clinical molecular genetics who require a practice-based preparation for board examinations. It will also be very useful for residents and fellows in medical specialties to which MGP is pertinent, and for practicing pathologists who want to learn more about the current practice of molecular diagnostics.
Genomics In The Clinic
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Author : Antonie D. Kline
language : en
Publisher: Academic Press
Release Date : 2023-11-04
Genomics In The Clinic written by Antonie D. Kline and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-11-04 with Medical categories.
Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling illustrates the current scope of the practice of genetics for healthcare professionals, so they can understand principles applicable to genetic testing and consultation. Written by an authoritative well-balanced team, including experienced clinical geneticists, genetic counselors, and medical subspecialists, this book adopts an accessible, easy-to-follow format. Sections are dedicated to basic genetic principles; clinical genetic and genomic testing; prenatal, clinical and cancer genetic diagnosis and counseling; and ethical and social implications in genomic medicine. Over 100 illustrative cases examine a range of prenatal, pediatric and adult genetic conditions and testing, putting these concepts and approaches into practice. Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling is important for primary care providers, as patient care evolves in the current genomic-influenced world of precision medicine. Clearly explains central concepts of genetic testing and genomic medicine for non-genetic physicians, healthcare providers, and trainees Offers clear steps for clinical integration of genetic concepts, genomic technology, and interpretation of genetic test results approachable and relevant to clinical practice Descriptive, applied case studies illustrate recommended genetic evaluation, counseling and management for a range of conditions throughout the lifetime
Clinical Dna Variant Interpretation
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Author : Conxi Lázaro
language : en
Publisher: Academic Press
Release Date : 2021-02-27
Clinical Dna Variant Interpretation written by Conxi Lázaro and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-02-27 with Medical categories.
Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, covers foundational aspects, modes of analysis, technology, disease and disorder specific case studies, and clinical integration. This book provides a deep theoretical background, as well as applied case studies and methodology, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes. Practical chapters discuss genomic variant interpretation, terminology and nomenclature, international consensus guidelines, population allele frequency, functional evidence transcripts for RNA, proteins, and enzymes, somatic mutations, somatic profiling, and much more. Compiles best practices, methods and sound evidence for DNA variant classification in one applied volume Features chapter contributions from international leaders in the field Includes practical examples of variant classification for common and rare disorders, and across clinical phenotypes
Self Assessment Questions For Clinical Molecular Genetics
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Author : Haiying Meng
language : en
Publisher: Academic Press
Release Date : 2019-05-28
Self Assessment Questions For Clinical Molecular Genetics written by Haiying Meng and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-05-28 with Medical categories.
Review Questions of Clinical Molecular Genetics presents a comprehensive study guide for the board and certificate exams presented by the American College of Medical Genetics and Genomics (ACMG) and the American Board of Medical Genetics and Genomics (ABMGG). It provides residents and fellows in genetics and genomics with over 1,000 concise questions, ranging from topics in cystic fibrosis, to genetic counseling, to trinucleotide repeat expansion disorders. It puts key points in the form of questions, thus challenging the reader to retain knowledge. As board and certificate exams require knowledge of new technologies and applications, this book helps users meet that challenge. Includes over 1,0000 multiple-choice, USMLE style questions to help readers prepare for specialty exams in Clinical Cytogenetics and Clinical Molecular Genetics Designed to assist clinical molecular genetic fellows, genetic counselors, medical genetic residents and fellows, and molecular pathologist residents in preparing for their certification exam Assists trainees on how to follow guidelines and put them in practice
Emery S Elements Of Medical Genetics
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Author : Robert F. Mueller
language : en
Publisher:
Release Date : 2001
Emery S Elements Of Medical Genetics written by Robert F. Mueller and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2001 with Medical categories.
Today's medical student needs to understand the principles of genetics rather than accumulate detailed facts. This text explains the essential themes of medical genetics whilst remaining in control of the developments in this subject.
The Science Of Human Perfection
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Author : Nathaniel Comfort
language : en
Publisher: Yale University Press
Release Date : 2012-09-25
The Science Of Human Perfection written by Nathaniel Comfort and has been published by Yale University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-09-25 with Science categories.
A thoughtful new look at the entwined histories of genetic medicine and eugenics, with probing discussion of the moral risks of seeking human perfection
The Agt Cytogenetics Laboratory Manual
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Author : Marilyn S. Arsham
language : en
Publisher: John Wiley & Sons
Release Date : 2017-04-24
The Agt Cytogenetics Laboratory Manual written by Marilyn S. Arsham and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-04-24 with Science categories.
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.
Molecular Genetic Pathology
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Author : Liang Cheng
language : en
Publisher: Springer
Release Date : 2013-03-05
Molecular Genetic Pathology written by Liang Cheng and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-03-05 with Medical categories.
Molecular Genetic Pathology, Second Edition presents up-to-date material containing fundamental information relevant to the clinical practice of molecular genetic pathology. Fully updated in each area and expanded to include identification of new infectious agents (H1N1), new diagnostic biomarkers and biomarkers for targeted cancer therapy. This edition is also expanded to include the many new technologies that have become available in the past few years such as microarray (AmpliChip) and high throughput deep sequencing, which will certainly change the clinical practice of molecular genetic pathology. Part I examines the clinical aspects of molecular biology and technology, genomics. Poharmacogenomics and proteomics, while Part II covers the clinically relevant information of medical genetics, hematology, transfusion medicine, oncology, and forensic pathology. Supplemented with many useful figures and presented in a helpful bullet-point format, Molecular Genetic Pathology, Second Edition provides a unique reference for practicing pathologists, oncologists, internists, and medical genetisists. Furthermore, a book with concise overview of the field and highlights of clinical applications will certainly help those trainees, including pathology residents, genetics residents, molecular pathology fellows, internists, hematology/oncology fellows, and medical technologists in preparing for their board examination/certification.
Human Germline Modification And The Right To Science
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Author : Andrea Boggio
language : en
Publisher: Cambridge University Press
Release Date : 2020-01-09
Human Germline Modification And The Right To Science written by Andrea Boggio and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-01-09 with Law categories.
A survey of the regulation of human germline genome modification in eighteen countries and the emerging international standards.