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• Author : Shashikant Kulkarni,John Pfeifer
• Publisher :Unknown
• Release Date :2014-11-10
• Total pages :488
• ISBN : 9780124051737

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Summary : 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

• Author : Shashikant Kulkarni,John Pfeifer
• Publisher :Unknown
• Release Date :2014-09-04
• Total pages :470
• ISBN : 0124047483

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Summary : 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

• Author : Shashikant Kulkarni,John Pfeifer
• Publisher :Unknown
• Release Date :2014-11-10
• Total pages :488
• ISBN : 9780124051737

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Summary : 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

• Author : Michael T. Murray, MD,Mark Babyatski, MD
• Publisher :Unknown
• Release Date :2013-11-07
• Total pages :928
• ISBN : 9780071622448

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Summary : The first book on the clinical application of genetics in primary care medicine, Clinical Genomics focuses on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. Unlike traditional textbooks on medical genetics and dysmorphology, this is a clinical reference that covers many of the common diseases seen in everyday medical practice. Features: endorsed by the American College of Physicians; addresses the genetic basis of common chronic diseases, not just the classic diseases of dysmorphology.

• Author : Dhavendra Kumar,David Weatherall
• Publisher :Unknown
• Release Date :2008-02-15
• Total pages :672
• ISBN : 0199720053

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Summary : 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.

• Author : Ralph Rapley,David Whitehouse
• Publisher :Unknown
• Release Date :2019-01-29
• Total pages :574
• ISBN : 9781788016803

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Summary : Genomics and genome technology is having, and continues to have, a major impact on all areas of bioscience research providing insights into the key area of molecular mechanisms of cells in health and disease. This is causing a profound effect on biomedical science and is accelerating the development of new diagnostic applications. This book provides a timely, graduate level introduction to the fast-paced area of genomics and clinical diagnostic technologies and introduces the concept of applications based on this area. The initial chapters focus on principal molecular technologies that underpin the information in the later chapters. In addition to introductory areas of nucleic acids and techniques in molecular biology, bioinformatics and proteomics, other key diagnostic areas such as the use of immunological reagents are covered. The later chapters provide more specialised examples of currently used diagnostic technologies and insights into selected key diagnostic challenges including specific examples of molecular microbial diagnostics and molecular biomarkers in oncology. The running themes through the chapters provides an insight into current and future perspectives in this rapidly evolving field.

• Author : Vu Tien Dung Ha
• Publisher :Unknown
• Release Date :2017
• Total pages :140
• ISBN : OCLC:1125679533

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Summary : The emergence of big data in the network age has led to many innovative breakthroughs in all sectors of life. One significant breakthrough are the prominent applications of clinical genomics in developing personalized medicine. In this thesis I explore the technological diffusion of clinical genomics within the spaces of convergence of multidisciplinary medical stakeholders in the Personalized Onco-Genomics (POG) cancer clinical trial, I co-developed the concept of "Genomic literacy" by drawing upon three areas of scholarship: health communication, information communication technologies (ICTs), and science and technology. I gathered data using a survey and semi-structured interviews with medical oncologists and other scientists at. Using this data I examine how genomic literacy, attitudes, and experiences of the domain experts working with clinical genomics can determine the adoption of genomic technologies into clinical care. These spaces of convergence of multidisciplinary medical stakeholders also create a pedagogical space where the stakeholders come together. This bioclinical collective of stakeholders learn more about genomics through their communicative and discursive processes, as they co-construct knowledge and meaning with genomic information.

• Author : Shweta Dhar,Sandesh Sreenath Chakravarthy Nagamani,Tanya Eble
• Publisher :Unknown
• Release Date :2020-04-10
• Total pages :534
• ISBN : 9780128173459

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Summary : 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

• Author : Yishai Feldman,Donald Kraft,Tsvi Kuflik
• Publisher :Unknown
• Release Date :2009-09-29
• Total pages :169
• ISBN : 9783642049408

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Summary : This book constitutes the refereed post-conference proceedings of the 7th International Conference on Next Generation Information Technologies and Systems, NGITS 2009, held in Haifa, Israel, in June 2009. The 14 revised full papers presented together with two keynote lectures and one invited paper were carefully reviewed and selected from numerous submissions. The papers are organized in topical sections on middleware and integration, modeling, healthcare/biomedical, service and information management, and applications.

• Author : Guenter Kahl
• Publisher :Unknown
• Release Date :2015-06-17
• Total pages :2742
• ISBN : 9783527678662

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Summary : Now in its fifth edition and for the first time available as an electronic product with all entries cross-linked. This very successful long-seller has once again been thoroughly updated and greatly expanded. It now contains over 13,000 entries, and comprehensively covering genomics, transcriptomics, and proteomics. Each entry contains an extensive explanation, including a comprehensive listing of synonyms and acronyms, and all formulas have been redrawn to create a uniform style, while most of the figures are custom designed for this dictionary. The ultimate reference for all terms in the -omics fields.

• Author : Aad Tibben,Barbara B. Biesecker
• Publisher :Unknown
• Release Date :2019-03-30
• Total pages :258
• ISBN : 9780128133361

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Summary : 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

• Author : Geoffrey S. Ginsburg,Huntington F Willard
• Publisher :Unknown
• Release Date :2016-11-22
• Total pages :398
• ISBN : 9780128006566

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Summary : Genomic and Precision Medicine: Translation and Implementation highlights the various points along the continuum from health to disease where genomic information is impacting clinical decision-making and leading to more personalization of health care. The book pinpoints the challenges, barriers, and solutions that have been, or are being, brought forward to enable translation of genome based technologies into health care. A variety of infrastructure (data systems and EMRs), policy (regulatory, reimbursement, privacy), and research (comparative effectiveness research, learning health system approaches) strategies are also discussed. Readers will find this volume to be an invaluable resource for the translational genomics and implementation science that is required to fully realize personalized health care. Provides a comprehensive volume on the translation and implementation of biology into health care provision Presents succinct commentary and key learning points that will assist readers with their local needs for translation and implementation Includes an up-to-date overview on major ‘translational events’ in genomic and personalized medicine, along with lessons learned

• Author : Thomas Lehner,Bruce L. Miller,Matthew W. State
• Publisher :Unknown
• Release Date :2016-06-07
• Total pages :796
• ISBN : 9780128005309

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Summary : 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

• Author : Dhavendra Kumar,Stylianos Antonarakis
• Publisher :Unknown
• Release Date :2016-06-04
• Total pages :358
• ISBN : 9780127999227

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Summary : Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems

• Author : Scott E. Hemby,Sabine Bahn
• Publisher :Unknown
• Release Date :2006-10-09
• Total pages :402
• ISBN : 0080465633

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Summary : The purpose of this work is to familiarize neuroscientists with the available tools for proteome research and their relative abilities and limitations. To know the identities of the thousands of different proteins in a cell, and the modifications to these proteins, along with how the amounts of both of these change in different conditions would revolutionize biology and medicine. While important strides are being made towards achieving the goal of global mRNA analysis, mRNA is not the functional endpoint of gene expression and mRNA expression may not directly equate with protein expression. There are many potential applications for proteomics in neuroscience: determination of the neuro-proteome, comparative protein expression profiling, post-translational protein modification profiling and mapping protein-protein interactions, to name but a few. Functional Genomics and Proteomics in Clinical Neuroscience will comment on all of these applications, but with an emphasis on protein expression profiling. This book combines the basic methodology of genomics and proteomics with the current applications of such technologies in understanding psychiatric illnesses. * Introduction of basic methodologies in genomics and proteomics and their integration in psychiatry * Development of the text in sections related to methods, application and future directions of these rapidly advancing technologies * Use of actual data to illustrate many principles of functional genomics and proteomics. * Introduction to bioinformatics and database management techniques

• Author : Neil Woodford,Alan Patrick Johnson
• Publisher :Unknown
• Release Date :2004
• Total pages :395
• ISBN : 9781592597635

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Summary : This review of the application of proteomic and genomic advances in clinical biology covers principles such as the application of genomics to diagnostic bacteriology and protocols for interrogating bacterial genomes. It also provides updates on all the significant advances of genome sequencing.

• Author : Donna K. Arnett, PhD,Sanjiv J. Shah, MD
• Publisher :Unknown
• Release Date :2014-11-10
• Total pages :246
• ISBN : 9781617051784

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Summary : Weighted Numerical Score: 100 - 5 Stars! This is a systematic guide to cardiovascular genetics and genomics from basic concepts to clinical application. It organizes a large volume of information from an active area of research, which holds promise for future discovery. --Doody's Reviews Cardiovascular Genetics and Genomics in Clinical Practice presents clinical cases to illuminate basic concepts of cardiovascular genetics and genomics as practitioners encounter them in day-to-day practice. The unique use of real-world case discussions facilitates the memorization and understanding of basic principles, which can be more readily applied to actual cases. Cardiovascular Genetics and Genomics in Clinical Practice features a step-by-step learning process that begins with an easy-to-understand "primer" of basic scientific concepts regarding cardiovascular genetics and genomics followed by state-of-the-art research and applications for treatment of cardiovascular disorders. Expert clinicians and researchers describe illustrative cases for each topic along with detailed discussions of current scientific understanding and its application in current disease management and treatment. Summaries, key teaching points, and illustrations are highlighted to facilitate quick recall and review. The book will be useful for cardiovascular clinicians in training, board preparation, or as a review for those already in clinical practice. Cardiovascular Genetics and Genomics in Clinical Practice features: Clinical case scenarios to illuminate the basic concepts of cardiovascular genetics and genomics as they are used in daily practice Explanation of fundamental concepts as a foundation for more in-depth understanding Detailed discussions of current scientific knowledge and clinical management The expertise of renowned clinician-scientists in the field Real practical insight for practice

• Author : Helen V. Firth,Jane A. Hurst,Judith G. Hall
• Publisher :Unknown
• Release Date :2005
• Total pages :708
• ISBN : 0192628968

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Summary : Judith G. Hall is a 2011 Fellow of The Royal Society of Canada. The first in a brand new series of easy-to-use guides, this book is set to become the bible for clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out patient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered. In addition there are chapters on familial cancer and pregnancy-related topics such as foetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated.

• Author : György Marko-Varga
• Publisher :Unknown
• Release Date :2014-08-26
• Total pages :282
• ISBN : 9789401792028

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Summary : The book is intended to be a resource for students as well as scientists in education and for the general public to learn about proteomics and genomics. Chromosomes form the basis for our genetic heritage and are the code for protein synthesis. The Human Genome Map came out in 2002, and the Proteome Sequence Map is under currently being created by a global consortia initiative. Proteome and genome building blocks already form the basis of scientific research areas as well as large parts of the pharmaceutical and biomedical industry. The book initiative will provide the background to and our current understanding of these gene and protein areas, as well as describe how cutting-edge science is using these resources to develop new medicines and new diagnostics for patient care and treatment. The book will be useful for undergraduate students as well as university students and researchers who need a good understanding of genomics and proteomics within the clinical field. The book will also be targeted at a broad public as well as readers not specialized within this field. Dr. Marko-Varga is the head of the Head of Div. Clinical Protein Science & Imaging at the Biomedical Center, Dept. of Measurement Technology and Industrial Electrical Engineering, Lund University, and Professor at the 1st Department of Surgery, Tokyo Medical University, Tokyo, Japan.

• Author : Federico Innocenti
• Publisher :Unknown
• Release Date :2008-10-30
• Total pages :378
• ISBN : 1603270884

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Summary : Genomics and Pharmacogenomics in Anticancer Drug Development and Clinical Response provides the most comprehensive body of knowledge available on the role of genetic and genomic variation in the individualization of drug therapies in cancer patients. As a consequence of the intrinsic chromosomal and genetic instability of the tumor genome, it is generally believed that tailoring of chemotherapy in cancer - tients might be achieved by molecular analysis of patient tumor DNA. In addition, to reduce the toxicity risk of patients, the tumor DNA information should be in- grated with the available data on polymorphic drug-metabolizing enzyme and tra- porter genes mediating the exposure of patients to active drugs and/or their active metabolites. The chapters of this book clearly show how DNA information from both the host (germline) and the tumor should be taken into account for rational selection of drug therapies in cancer patients, an aspect that received little attention, despite its importance. The availability of new molecular approaches to the selection of drug therapy is an emerging need, because the traditional approach based on the evaluation of patient and tumor characteristics is clearly far from optimal. Many treated patients do not experience signi?cant bene?ts from the treatment, while they often experience moderate to severe toxicities. In addition, the development and clinical use of novel molecularly targeted agents (alone or in combination with classical cytotoxic therapy) requires the und- standing of the molecular features of the tumors and the identi?cation of tumor markers of response.

• Author : Krishna R. Dronamraju,Clair A. Francomano
• Publisher :Unknown
• Release Date :2012-06-08
• Total pages :234
• ISBN : 9781461416777

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Summary : This book is being planned as a tribute to Dr. Victor A. McKusick (1921-2008), who is well known as the “father of medical genetics”. He was long associated with the Johns Hopkins University School of Medicine, first as a student in the 1940s, and later as a faculty member, becoming the Chairman of the Department of Medicine at Johns Hopkins. He was a co-founder of GENOMICS and founder and lifelong editor of Mendelian Inheritance in Man, a massive compendium of human syndromes and genetic variants. Dr. McKusick made distinguished contributions to all branches of medical genetics. He was a member of the U.S. National Academy of Sciences and many other academies in the world. He was awarded the National Medal of Science in 2002. He received many other honors including several honorary doctorates. The proposed book will reflect all the fields touched upon by Dr. McKusick’s contributions. It will be a valuable source of the latest progress in medical genetics. The contributors are internationally distinguished in their chosen specialties. Besides professional distinction, they are being selected because of their past association with Dr. McKusick, as former students or colleagues who extended his research in some fashion. The proposed book will reflect all the fields touched upon by Dr. McKusick’s contributions. It will be a valuable source of the latest progress in medical genetics. The contributors are internationally distinguished in their chosen specialties. Besides professional distinction, they are being selected because of their past association with Dr. McKusick, as former students or colleagues who extended his research in some fashion.