Clinical Genomics

Clinical Genomics
Author: Shashikant Kulkarni,John Pfeifer
Publsiher: Academic Press
Total Pages: 488
Release: 2014-11-10
ISBN 10: 0124051731
ISBN 13: 9780124051737
Language: EN, FR, DE, ES & NL

Clinical Genomics Book Review:

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

Clinical Genome Sequencing

Clinical Genome Sequencing
Author: Aad Tibben,Barbara B. Biesecker
Publsiher: Academic Press
Total Pages: 258
Release: 2019-03-30
ISBN 10: 0128133368
ISBN 13: 9780128133361
Language: EN, FR, DE, ES & NL

Clinical Genome Sequencing Book Review:

Clinical Genome Sequencing: Psychological Aspects thoroughly details key psychological factors to consider while implementing genome sequencing in clinical practice, taking into account the subtleties of genetic risk assessment, patient consent and best practices for sharing genomic findings. Chapter contributions from leading international researchers and practitioners cover topics ranging from the current state of genomic testing, to patient consent, patient responses to sequencing data, common uncertainties, direct-to-consumer genomics, the role of genome sequencing in precision medicine, genetic counseling and genome sequencing, genome sequencing in pediatrics, genome sequencing in prenatal testing, and ethical issues in genome sequencing. Applied clinical case studies support concept illustration, making this an invaluable, practical reference for this important and multifaceted topic area within genomic medicine. Features contributions from leading international researchers and practitioners versed in the psychosocial dimensions of genomic medicine implementation Presents clinical case studies that support concept illustration, making this an invaluable reference for students, researchers, and clinicians looking for practical guidance in this important and multifaceted topic area Details the current state of genomic testing, expectations of genome sequencing, patient consent, patient responses to sequencing data, uncertainties in genome sequencing, direct-to-consumer genome sequencing, and more

Handbook of Clinical Adult Genetics and Genomics

Handbook of Clinical Adult Genetics and Genomics
Author: Shweta Dhar,Sandesh Sreenath Chakravarthy Nagamani,Tanya Eble
Publsiher: Academic Press
Total Pages: 534
Release: 2020-04-10
ISBN 10: 0128173459
ISBN 13: 9780128173459
Language: EN, FR, DE, ES & NL

Handbook of Clinical Adult Genetics and Genomics Book Review:

Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more. Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics Features chapter contributions from authors at leading adult genetics institutions in the US and abroad

Precision Medicine A Guide to Genomics in Clinical Practice

Precision Medicine  A Guide to Genomics in Clinical Practice
Author: Jeanette J. McCarthy,Bryce A. Mendelsohn
Publsiher: McGraw Hill Professional
Total Pages: 304
Release: 2017-01-05
ISBN 10: 1259644146
ISBN 13: 9781259644146
Language: EN, FR, DE, ES & NL

Precision Medicine A Guide to Genomics in Clinical Practice Book Review:

Incorporate genomics into every applicable area of your clinical practice with this complete how-to guide Precision Medicine: A Guide to Genomics in Clinical Practice is a comprehensive, yet succinct overview of the practice of genomic medicine. It is written for general healthcare practitioners, specialists, and trainees with the goal of providing detailed guidance on how to incorporate genomic medicine into daily practice. Features that make this book valuable to every practice: •Intentionally avoids excessive technical content and consistently emphasizes real-life patient care and decision support •Follows the course of a human life, beginning before conception through pregnancy, childhood, and adulthood, discussing the current and future applications of genomics and precision medicine at each stage •Organization allows healthcare providers to quickly and easily find the information relevant to their practice. •The authors highlight common pitfalls – technical and ethical – that might complicate the delivery of quality genomic healthcare •Enhanced by eleven valuable appendices that cover important topics ranging from the basics of genetics to ethical issues to regulation and reimbursement If you are searching for a clinically relevant, non-technical resource that will teach you how genomic medicine can and should be practiced in your specific field of interest, Precision Medicine: A Guide to Genomics in Clinical Practicebelongs on your desk.

Genomic and Personalized Medicine

Genomic and Personalized Medicine
Author: Anonim
Publsiher: Academic Press
Total Pages: 1350
Release: 2012-10-30
ISBN 10: 0123822289
ISBN 13: 9780123822284
Language: EN, FR, DE, ES & NL

Genomic and Personalized Medicine Book Review:

Genomic and Personalized Medicine, Second Edition — winner of a 2013 Highly Commended BMA Medical Book Award for Medicine — is a major discussion of the structure, history, and applications of the field, as it emerges from the campus and lab into clinical action. As with the first edition, leading experts review the development of the new science, the current opportunities for genome-based analysis in healthcare, and the potential of genomic medicine in future healthcare. The inclusion of the latest information on diagnostic testing, population screening, disease susceptability, and pharmacogenomics makes this work an ideal companion for the many stakeholders of genomic and personalized medicine. With advancing knowledge of the genome across and outside protein-coding regions of DNA, new comprehension of genomic variation and frequencies across populations, the elucidation of advanced strategic approaches to genomic study, and above all in the elaboration of next-generation sequencing, genomic medicine has begun to achieve the much-vaunted transformative health outcomes of the Human Genome Project, almost a decade after its official completion in April 2003. Highly Commended 2013 BMA Medical Book Award for Medicine More than 100 chapters, from leading researchers, review the many impacts of genomic discoveries in clinical action, including 63 chapters new to this edition Discusses state-of-the-art genome technologies, including population screening, novel diagnostics, and gene-based therapeutics Wide and inclusive discussion encompasses the formidable ethical, legal, regulatory and social challenges related to the evolving practice of genomic medicine Clearly and beautifully illustrated with 280 color figures, and many thousands of references for further reading and deeper analysis

Essentials of Genomic and Personalized Medicine

Essentials of Genomic and Personalized Medicine
Author: Geoffrey S. Ginsburg,Huntington F Willard
Publsiher: Academic Press
Total Pages: 850
Release: 2009-10-02
ISBN 10: 9780080958118
ISBN 13: 0080958117
Language: EN, FR, DE, ES & NL

Essentials of Genomic and Personalized Medicine Book Review:

Derived from the comprehensive two-volume set, Genomic and Personalized Medicine also edited by Drs. Willard and Ginsburg, this work serves the needs of the evolving population of scientists, researchers, practitioners and students that are embracing one of the most promising avenues for advances in diagnosis, prevention and treatment of human disease. From principles, methodology and translational approaches to genome discoveries and clinical applications, Essentials of Genomic and Personalized Medicine will be a valuable resource for various professionals and students across medical disciplines, including human genetics and genomics, oncology, neuroscience, gene therapy, molecular medicine, pharmacology, and biomedical sciences. Updates with regard to diagnostic testing, pharmacogenetics, predicting disease susceptibility, and other important research components as well as chapters dedicated to cardiovascular disease, oncology, inflammatory disease, metabolic disease, neuropsychiatric disease, and infectious disease, present this book as an essential tool for a variety of professionals and students who are endeavouring into the developing the diverse and practical field of genomic and personalized medicine. * Full color throughout * Includes contributions on genetic counselling, ethical, legal/regulatory, and social issues related to the practice of genomic medicine from leaders in the field * Introductory chapter highlights differences between personalized and traditional medicine, promising areas of current research, and challenges to incorporate the latest research discoveries and practice * Ancillary material includes case studies and lab questions which highlight the collaborative approach to the science

Genomic and Precision Medicine

Genomic and Precision Medicine
Author: Geoffrey S. Ginsburg,Huntington F Willard,Sean P. David
Publsiher: Academic Press
Total Pages: 370
Release: 2017-03-30
ISBN 10: 0128006544
ISBN 13: 9780128006542
Language: EN, FR, DE, ES & NL

Genomic and Precision Medicine Book Review:

Genomic and Precision Medicine: Primary Care, Third Edition is an invaluable resource on the state-of-the-art tools, technologies and policy issues that are required to fully realize personalized health care in the area of primary care. One of the major areas where genomic and personalized medicine is most active is the realm of the primary care practitioner. Risk, family history, personal genomics and pharmacogenomics are becoming increasingly important to the PCP and their patients, and this book discusses the implications as they relate to primary care practitioners. Presents a comprehensive volume for primary care providers Provides succinct commentary and key learning points that will assist providers with their local needs for the implementation of genomic and personalized medicine Includes a current overview on major opportunities for genomic and personalized medicine in practice Highlights case studies that illustrate the practical use of genomics in the management in patients

Clinical Ophthalmic Genetics and Genomics

Clinical Ophthalmic Genetics and Genomics
Author: Graeme C.M. Black,Jane L. Ashworth,Panagiotis I. Sergouniotis
Publsiher: Academic Press
Total Pages: 496
Release: 2022-01-18
ISBN 10: 0128139455
ISBN 13: 9780128139455
Language: EN, FR, DE, ES & NL

Clinical Ophthalmic Genetics and Genomics Book Review:

Clinical Ophthalmic Genetics and Genomics provides an accessible, clinically-focused reference for the evolving field of Genetic Ophthalmology. This well-organised, easy-to-read textbook integrates key concepts with clinical practice and is designed to enhance effective learning and retention of complex material. It includes contributions from recognised leaders in the field and provides expert guidance on the complete spectrum of genetic ophthalmic disorders. A structured introductory section offering a practical guide to the processes involved in diagnosing patients with genetic ophthalmic disorders Expert guidance on the complete spectrum of genetic ophthalmic disorders from leading international clinicians and researchers Well-organised with streamlined, templated chapters and a user-friendly layout that provides quick access to clinically relevant information, and is designed to help ophthalmologists, geneticists, and genetic counsellors in the clinic room

Genomics Circuits and Pathways in Clinical Neuropsychiatry

Genomics  Circuits  and Pathways in Clinical Neuropsychiatry
Author: Thomas Lehner,Bruce L. Miller,Matthew W. State
Publsiher: Academic Press
Total Pages: 796
Release: 2016-06-07
ISBN 10: 0128005300
ISBN 13: 9780128005309
Language: EN, FR, DE, ES & NL

Genomics Circuits and Pathways in Clinical Neuropsychiatry Book Review:

This foundational work comprehensively examines the current state of the genetics, genomics and brain circuitry of psychiatric and neurological disorders. It consolidates discoveries of specific genes and genomic regions associated with these conditions, the genetic and anatomic architecture of these syndromes, and addresses how recent advances in genomics are leading to a reappraisal of the biology underlying clinical neuroscience. In doing so, it critically examines the promise and limitations of these discoveries toward treatment, and to the interdisciplinary nature of understanding brain and behavior. Coverage includes new discoveries regarding autism, epilepsy, intellectual disability, dementias, movement disorders, language impairment, disorders of attention, schizophrenia, and bipolar disorder. Genomics, Circuits, and Pathways in Clinical Neuropsychiatry focuses on key concepts, challenges, findings, and methods in genetics, genomics, molecular pathways, brain circuitry, and related neurobiology of neurologic and psychiatric disorders. Provides interdisciplinary appeal in psychiatry, neurology, neuroscience, and genetics Identifies key concepts, methods, and findings Includes coverage of multiple disorders from autism to schizophrenia Reviews specific genes associated with disorders Discusses the genetic architecture of these syndromes Explains how recent findings are influencing the understanding of biology Clarifies the promise of these findings for future treatment

Genetics in the Clinic

Genetics in the Clinic
Author: Mary Briody Mahowald,Victor A. McKusick,Angela Scheuerle,Timothy J. Aspinwall
Publsiher: Mosby Incorporated
Total Pages: 304
Release: 2001
ISBN 10: 1928374650XXX
ISBN 13: UOM:39015050717555
Language: EN, FR, DE, ES & NL

Genetics in the Clinic Book Review:

GENETICS IN THE CLINIC provides a broad understanding of advances in genetics and their implications for primary care practice. The book begins with basic concepts in genetics, diagnosis and management of genetic disease, cancer genetics, and prenatal testing. Part Two deals with topics relevant to all areas of primary care, such as cultural and ethnic differences, the role of the nurse, and genetic counseling. Part Three addresses ethical or social issues applicable to specific practices. The book's final section considers regulatory matters, including the impact of managed care and insurance and employment issues. Practitioners who are knowledgeable about health care, but who have no special training in genetics, will find this book especially useful as they learn to deal with the clinical, ethical, and social implications of advances in genetics for their practice. Thoroughly explains how to obtain a useful family history, what kind of genetic tests to order and when, how to counsel parents about testing of children, how to counsel for late onset or susceptibility conditions, and how to identify those for whom cancer risk or other risk testing is appropriate. Expert perspectives on disability, ethnic, gender, and class differences, reflecting the wide variety of patients seen by today's practitioners. Glossary of genetic terms and extensive bibliography of print and electronic sources - useful for clinicians who want to update their practice or for explaining complex terminology to patients. Dr. McKusick is world-renowned for his expertise in the field of human genetics and specific genetic conditions. Contributors have been trained in various areas of primary care: obstetrics, paediatrics, family medicine, internal medicine, and nursing

Genomic and Precision Medicine

Genomic and Precision Medicine
Author: Geoffrey S. Ginsburg,Huntington F Willard,John Strickler,Matthew Stuart McKinney
Publsiher: Academic Press
Total Pages: 378
Release: 2022-04-09
ISBN 10: 0128006536
ISBN 13: 9780128006535
Language: EN, FR, DE, ES & NL

Genomic and Precision Medicine Book Review:

Genomic and Precision Medicine: Oncology, Third Edition focuses on the applications of genome discovery as research points to personalized cancer therapies. Each chapter is organized to cover the application of genomics and personalized medicine tools and technologies to a) Risk Assessment and Susceptibility, b) Diagnosis and Prognosis, c) Pharmacogenomics and Precision Therapeutics, and d) Emerging and Future Opportunities in the field. Provides a comprehensive volume written and edited by oncology genomic specialists for oncology health providers Includes succinct commentary and key learning points that will assist providers with their local needs for implementation of genomic and personalized medicine into practice Presents an up-to-date overview on major opportunities for genomic and personalized medicine in practice Covers case studies that highlight the practical use of genomics in the management of patients

The Genome Odyssey

The Genome Odyssey
Author: Dr. Euan Angus Ashley
Publsiher: Celadon Books
Total Pages: 352
Release: 2021-02-23
ISBN 10: 1250234972
ISBN 13: 9781250234971
Language: EN, FR, DE, ES & NL

The Genome Odyssey Book Review:

In The Genome Odyssey, Dr. Euan Ashley, Stanford professor of medicine and genetics, brings the breakthroughs of precision medicine to vivid life through the real diagnostic journeys of his patients and the tireless efforts of his fellow doctors and scientists as they hunt to prevent, predict, and beat disease. Since the Human Genome Project was completed in 2003, the price of genome sequencing has dropped at a staggering rate. It’s as if the price of a Ferrari went from $350,000 to a mere forty cents. Through breakthroughs made by Dr. Ashley’s team at Stanford and other dedicated groups around the world, analyzing the human genome has decreased from a heroic multibillion dollar effort to a single clinical test costing less than $1,000. For the first time we have within our grasp the ability to predict our genetic future, to diagnose and prevent disease before it begins, and to decode what it really means to be human. In The Genome Odyssey, Dr. Ashley details the medicine behind genome sequencing with clarity and accessibility. More than that, with passion for his subject and compassion for his patients, he introduces readers to the dynamic group of researchers and doctor detectives who hunt for answers, and to the pioneering patients who open up their lives to the medical community during their search for diagnoses and cures. He describes how he led the team that was the first to analyze and interpret a complete human genome, how they broke genome speed records to diagnose and treat a newborn baby girl whose heart stopped five times on the first day of her life, and how they found a boy with tumors growing inside his heart and traced the cause to a missing piece of his genome. These patients inspire Dr. Ashley and his team as they work to expand the boundaries of our medical capabilities and to envision a future where genome sequencing is available for all, where medicine can be tailored to treat specific diseases and to decode pathogens like viruses at the genomic level, and where our medical system as we know it has been completely revolutionized.

Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics

Emery and Rimoin   s Principles and Practice of Medical Genetics and Genomics
Author: Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
Publsiher: Academic Press
Total Pages: 412
Release: 2018-11-20
ISBN 10: 0128126841
ISBN 13: 9780128126844
Language: EN, FR, DE, ES & NL

Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics Book Review:

For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world’s most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Clinical Principles and Applications thoroughly addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Additionally, new and updated chapters explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects. With regular advances in genomic technologies propelling precision medicine into the clinic, the seventh edition of Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers. Fully revised and up-to-date, this new edition introduces genetic researchers, students, and health professionals to general principles of genetic counseling, genetic and genomic diagnostics, treatment pathways, drug discovery, and the application of genomic technologies, analytics, and therapeutics in clinical practice Examines key topics and developing areas within clinical genomics, including genetic evaluation of patients, clinical trials and drug discovery, genetic health records, cytogenetic analysis, diagnostic molecular genetics, small molecule genetic therapeutics, gene product replacement, clinical teratology, transplantation genetics, and ethical and legal aspects of genomic medicine Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics

Pharmacogenomics in Precision Medicine

Pharmacogenomics in Precision Medicine
Author: Weimin Cai,Zhaoqian Liu,Liyan Miao,Xiaoqiang Xiang
Publsiher: Springer Nature
Total Pages: 289
Release: 2020-06-12
ISBN 10: 9811538956
ISBN 13: 9789811538957
Language: EN, FR, DE, ES & NL

Pharmacogenomics in Precision Medicine Book Review:

This book provides an introduction to the principles of pharmacogenomics and precision medicine, followed by the pharmacogenomics aspects of major therapeutic areas such as cardiovascular disease, cancer, organ transplantation, psychiatry, infection, antithrombotic drugs. It also includes genotyping technology and therapeutic drug monitoring in Pharmacogenomics; ethical, Legal and Regulatory Issues; cost-effectiveness of pharmacogenetics-guided treatment; application of pharmacogenomics in drug discovery and development and clinical Implementation of Pharmacogenomics for Personalized Precision Medicine. The contributors of Pharmacogenomics in Precision Medicine come from a team of experts, including professors from academic institutions and practitioner from hospital. It will give an in-depth overview of the current state of pharmacogenomics in drug therapy for all health care professionals and graduate students in the era of precision medicine.

Genomics and Clinical Medicine

Genomics and Clinical Medicine
Author: Dhavendra Kumar,David Weatherall
Publsiher: Oxford University Press
Total Pages: 672
Release: 2008-02-15
ISBN 10: 9780199720057
ISBN 13: 0199720053
Language: EN, FR, DE, ES & NL

Genomics and Clinical Medicine Book Review:

An important milestone in medicine has been the recent completion of the Human Genome Project. The identification of 30,000 genes and their regulatory proteins provides the framework for understanding the metabolic basis of disease. This advance has also laid the foundation for a broad range of genomic tools that have opened the way for targeted genetic testing in a number of medical disorders. This book is designed to be the first major text to discuss genomics-based advances in disease susceptibility, diagnosis, prognostication,and prediction of treatment outcomes in various areas of medicine. After building a strong underpinning in the basic concepts of genomics, the authors of this book, all leaders in the field, proceed to discuss a wide range of clinical areas and the applications now afforded by genomic analysis.

Clinical Genomics Practical Applications for Adult Patient Care

Clinical Genomics  Practical Applications for Adult Patient Care
Author: Michael T. Murray,Mark Babyatski,Monica Giovanni
Publsiher: McGraw Hill Professional
Total Pages: 608
Release: 2013-10-22
ISBN 10: 0071810595
ISBN 13: 9780071810593
Language: EN, FR, DE, ES & NL

Clinical Genomics Practical Applications for Adult Patient Care Book Review:

Convert the latest genomic data to the most effective patient management and treatment approaches Clinical Genomics helps healthcare providers translate the vast amount of new genomic data into successful clinical application. It is a comprehensive textbook and practical guide to the use of this information across a broad spectrum of adult diseases – from individual differences in drug responses, cardiac and cancer risks to Alzheimer's and other neurological and psychiatric disorders. While traditional textbooks on medical genetics focus on classic Mendelian disorders, Clinical Genomics discusses the everyday application of genetic assessment and the diagnostic, therapeutic, and preventive implications to the most common adult diseases that healthcare providers encounter. Covering approximately 200 conditions, it is a true clinical text for use across all of internal medicine. Coverage of each condition is presented in a consistent, clinically relevant manner and includes: Key Points Diagnostic Criteria and Clinical Characteristics Screening and C ounseling Management and Treatment Molecular Genetics and Molecular Mechanism Supplementary Information More than ten valuable appendices, include Genetic Privacy; Race, Ancestry, and Genetics; Personalized Medicine in Clinical Practice; Clinical Interpretation of Genomic Data; and Genetic Risk Profiling in the Genomics Era. Clinical Genomics is essential for internists, primary care physicians, and other healthcare providers who wish to increase their knowledge of the gene-and-protein level care of patients in a clinical setting.

Human Genome Structure Function and Clinical Considerations

Human Genome Structure  Function and Clinical Considerations
Author: Luciana Amaral Haddad
Publsiher: Springer Nature
Total Pages: 361
Release: 2021-06-07
ISBN 10: 3030731510
ISBN 13: 9783030731519
Language: EN, FR, DE, ES & NL

Human Genome Structure Function and Clinical Considerations Book Review:

This book provides a detailed evidence-based overview of the latest developments in how the structure of the human genome is relevant to the health professional. It features comprehensive reviews of genome science including human chromosomal and mitochondrial DNA structure, protein-coding and noncoding genes, and the diverse classes of repeat elements of the human genome. These concepts are then built upon to provide context as to how they functionally relate to differences in phenotypic traits that can be observed in human populations. Guidance is also provided on how this information can be applied by the medical practitioner in day-to-day clinical practice. Human Genome Structure, Function and Clinical Considerations collates the latest developments in genome science and current methods for genome analysis that are relevant for the clinician, researcher and scientist who utilises precision medicine techniques and is an essential resource for any such practitioner.

Genomics of Rare Diseases

Genomics of Rare Diseases
Author: Claudia Gonzaga-Jauregui,James R. Lupski
Publsiher: Academic Press
Total Pages: 316
Release: 2021-06-12
ISBN 10: 0128204362
ISBN 13: 9780128204368
Language: EN, FR, DE, ES & NL

Genomics of Rare Diseases Book Review:

Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions Explores opportunities for novel therapeutics Features chapter contributions from leading researchers and clinicians

Routledge Handbook of Genomics Health and Society

Routledge Handbook of Genomics  Health and Society
Author: Sahra Gibbon,Barbara Prainsack,Stephen Hilgartner,Janelle Lamoreaux
Publsiher: Routledge
Total Pages: 316
Release: 2018-04-17
ISBN 10: 1315451670
ISBN 13: 9781315451671
Language: EN, FR, DE, ES & NL

Routledge Handbook of Genomics Health and Society Book Review:

The Handbook provides an essential resource at the interface of Genomics, Health and Society, and forms a crucial research tool for both new students and established scholars across biomedicine and social sciences. Building from and extending the first Routledge Handbook of Genetics and Society, the book offers a comprehensive introduction to pivotal themes within the field, an overview of the current state of the art knowledge on genomics, science and society, and an outline of emerging areas of research. Key themes addressed include the way genomic based DNA technologies have become incorporated into diverse arenas of clinical practice and research whilst also extending beyond the clinic; the role of genomics in contemporary ‘bioeconomies’; how challenges in the governance of medical genomics can both reconfigure and stabilise regulatory processes and jurisdictional boundaries; how questions of diversity and justice are situated across different national and transnational terrains of genomic research; and how genomics informs – and is shaped by – developments in fields such as epigenetics, synthetic biology, stem cell, microbial and animal model research. Presenting cutting edge research from leading social science scholars, the Handbook provides a unique and important contribution to the field. It brings a rich and varied cross disciplinary social science perspective that engages with both the history and contemporary context of genomics and ‘post-genomics’, and considers the now global and transnational terrain in which these developments are unfolding.

Clinical DNA Variant Interpretation

Clinical DNA Variant Interpretation
Author: Conxi Lázaro,Jordan Lerner-Ellis,Amanda Spurdle
Publsiher: Academic Press
Total Pages: 436
Release: 2021-02-27
ISBN 10: 0128205202
ISBN 13: 9780128205204
Language: EN, FR, DE, ES & NL

Clinical DNA Variant Interpretation Book Review:

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