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Clinical Genomics

Clinical Genomics
A Book

by Shashikant Kulkarni,John Pfeifer

  • Publisher : Academic Press
  • Release : 2014-11-10
  • Pages : 488
  • ISBN : 0124051731
  • Language : En, Es, Fr & De
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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 Genomics: Practical Applications for Adult Patient Care

Clinical Genomics: Practical Applications for Adult Patient Care
A Book

by Michael T. Murray, MD,Mark Babyatski, MD

  • Publisher : McGraw Hill Professional
  • Release : 2013-11-07
  • Pages : 928
  • ISBN : 0071622446
  • Language : En, Es, Fr & De
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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.

Clinical Genomics in Medical Practice

Clinical Genomics in Medical Practice
A Book

by Pericak-Vance

  • Publisher : Unknown Publisher
  • Release : 2009-12-15
  • Pages : 129
  • ISBN : 9780071446518
  • Language : En, Es, Fr & De
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Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics
Perinatal and Reproductive Genetics

by Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody

  • Publisher : Academic Press
  • Release : 2021-11-02
  • Pages : 318
  • ISBN : 0128152370
  • Language : En, Es, Fr & De
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Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition 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 in this growing field. The book is ideal 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. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies. Fully revised and up-to-date, this new edition introduces genetic researchers, students and healthcare professionals to genomic technologies, testing and therapeutic applications Examines key topics and developing methods within genomic testing and therapeutics, including single gene testing, whole genome and whole exome sequencing, gene therapy and genome editing, variant Interpretation and classification, and ethical aspects of applying genomic technologies Includes color images that support the identification, concept illustration, and method of processing Features contributions by leading international researchers and practitioners of medical genetics Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field

Clinical Genome Sequencing

Clinical Genome Sequencing
Psychological Considerations

by Aad Tibben,Barbara B. Biesecker

  • Publisher : Academic Press
  • Release : 2019-03-30
  • Pages : 258
  • ISBN : 0128133368
  • Language : En, Es, Fr & De
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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

Spaces of Convergence in a Cancer Clinical Genomics Trial

Spaces of Convergence in a Cancer Clinical Genomics Trial
A Survey Examining Genomic Literacy Among Medical Oncologists in British Columbia

by Vu Tien Dung Ha

  • Publisher : Unknown Publisher
  • Release : 2017
  • Pages : 140
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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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.

Genomics, Proteomics, and Clinical Bacteriology

Genomics, Proteomics, and Clinical Bacteriology
Methods and Reviews

by Neil Woodford,Alan Patrick Johnson

  • Publisher : Springer Science & Business Media
  • Release : 2004
  • Pages : 395
  • ISBN : 1592597637
  • Language : En, Es, Fr & De
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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.

Medical and Health Genomics

Medical and Health Genomics
A Book

by Dhavendra Kumar,Stylianos Antonarakis

  • Publisher : Academic Press
  • Release : 2016-06-04
  • Pages : 358
  • ISBN : 0127999221
  • Language : En, Es, Fr & De
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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

Handbook of Clinical Adult Genetics and Genomics

Handbook of Clinical Adult Genetics and Genomics
A Practice-Based Approach

by Shweta Dhar,Sandesh Sreenath Chakravarthy Nagamani,Tanya Eble

  • Publisher : Academic Press
  • Release : 2020-04-10
  • Pages : 534
  • ISBN : 0128173459
  • Language : En, Es, Fr & De
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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

Assessing Genomic Sequencing Information for Health Care Decision Making

Assessing Genomic Sequencing Information for Health Care Decision Making
Workshop Summary

by Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health

  • Publisher : National Academies Press
  • Release : 2014-08-19
  • Pages : 126
  • ISBN : 0309304970
  • Language : En, Es, Fr & De
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Rapid advances in technology have lowered the cost of sequencing an individual's genome from the several billion dollars that it cost a decade ago to just a few thousand dollars today and have correspondingly greatly expanded the use of genomic information in medicine. Because of the lack of evidence available for assessing variants, evaluation bodies have made only a few recommendations for the use of genetic tests in health care. For example, organizations, such as the Evaluation of Genomic Applications in Practice and Prevention working group, have sought to set standards for the kinds of evaluations needed to make population-level health decisions. However, due to insufficient evidence, it has been challenging to recommend the use of a genetic test. An additional challenge to using large-scale sequencing in the clinic is that it may uncover "secondary," or "incidental," findings - genetic variants that have been associated with a disease but that are not necessarily related to the conditions that led to the decision to use genomic testing. Furthermore, as more genetic variants are associated with diseases, new information becomes available about genomic tests performed previously, which raises issues about how and whether to return this information to physicians and patients and also about who is responsible for the information. To help develop a better understanding of how genomic information is used for healthcare decision making, the Roundtable on Translating Genomic-Based Research for Health of the Institute of Medicine held a workshop in Washington,DC in February 2014. Stakeholders, including clinicians, researchers, patients, and government officials, discussed the issues related to the use of genomic information in medical practice. Assessing Genomic Sequencing Information for Health Care Decision Making is the summary of that workshop. This report compares and contrasts evidence evaluation processes for different clinical indications and discusses key challenges in the evidence evaluation process.

Clinical Genomics

Clinical Genomics
Practical Applications for Adult Patient Care

by Andrew Howard

  • Publisher : Unknown Publisher
  • Release : 2019-01-13
  • Pages : 129
  • ISBN : 9781644350799
  • Language : En, Es, Fr & De
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Methods and Applications for Position-specific Evolutionary Features in Clinical Genomics

Methods and Applications for Position-specific Evolutionary Features in Clinical Genomics
A Book

by Joel Dudley

  • Publisher : Unknown Publisher
  • Release : 2011
  • Pages : 129
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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One of the grand challenges in genomic medicine is to translate fundamental scientific discoveries regarding the structure, variation, and function of the genomes of individuals and populations towards improved health outcomes. The main hypothesis of this thesis is that all forms of human genetic variation contributing to the etiology and pathophysiology of modern human diseases have distinct and quantifiable evolutionary histories, which can be computed for every position in the human genome independent of human population characteristics, and used as informative quantitative priors in the discovery and assessment of variants of clinical importance in modern human populations. To enable robust evaluation of the specific questions posed by this thesis, I first explore the necessary properties and theoretical basis for a null evolutionary hypothesis for Evolutionary Genomic Medicine, and conclude that the well-established Neutral Theory of Molecular Evolution provides a sound theoretical and methodological basis for evaluating alternative hypothesis in Evolutionary Genomic Medicine. Due to advances in multiplex genotyping technologies, genome-wide associations studies (GWAS), have emerged as the premier modality for discovery and assessment clinical genomic variation. Although these efforts have been successful in revealing thousands variants robustly associated with a broad spectrum of clinical phenotypes, the variants established by the GWAS approach have so far failed to explain large proportions of the known genetic variance associated with important clinical traits such as Type 2 Diabetes and Hypertension. Because disease-associated variation is linked with genomic loci of functional importance which have undergone evolutionary selection, and even the proxy loci (e.g. tagging SNPs) used to probe for disease associated loci themselves have quantifiable evolutionary histories, I evaluate a compendium of disease-associated variants to evaluate the effect of long-term evolutionary histories on the discovery of disease-associated variants. Through this work I demonstrate that disease-associated variants have distinct evolutionary properties, and that evolutionary features of positions can be incorporated as priors to improve discovery of disease-associated variants. A similar approach is applied to evaluate pharmacogenomics variants associated with warfarin, demonstrating that evolutionary features of genomic positions improve clinical assessment of pharmacogenomics variation. Through the findings and insights gained from efforts in pursuit of my thesis which are reported here, my collaborators and I clearly demonstrate that quantitative evolutionary features can be estimated for each position in the human genome across species, and then applied to modern human population data to improve discovery and assessment of genomic variation associated with clinical phenotypes.

Oxford Desk Reference: Clinical Genetics and Genomics

Oxford Desk Reference: Clinical Genetics and Genomics
A Book

by Helen V. Firth,Jane A. Hurst

  • Publisher : Oxford University Press
  • Release : 2017
  • Pages : 877
  • ISBN : 0199557500
  • Language : En, Es, Fr & De
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Preceded by Oxford desk reference. Clinical genetics / Helen V. Firth, Jane A. Hurst, with Judith G. Hall (consulting editor). 2005.

Noninvasive Prenatal Testing (NIPT)

Noninvasive Prenatal Testing (NIPT)
Applied Genomics in Prenatal Screening and Diagnosis

by Lieve Page-Christiaens,Hanns-Georg Klein

  • Publisher : Academic Press
  • Release : 2018-08-19
  • Pages : 405
  • ISBN : 0128141905
  • Language : En, Es, Fr & De
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Since its introduction in 2012, cell-free (cf) DNA based Non-Invasive Prenatal Testing (NIPT) has been employed to test for fetal chromosome abnormalities, and gene mutations that lead to a variety of genetic conditions, by millions of pregnant women, in more than 90 countries worldwide. With Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis, Dr Lieve Page-Christiaens and Dr Hanns-Georg Klein have compiled the first authoritative volume on cfDNA NIPT methods and their clinical implementation. Provides a thorough, practical examination of the history of NIPT, NIPT laboratory techniques and bioinformatics, NIPT screening and diagnostics for a wide range of disorders and birth defects Presents leading, international experts who discuss the application of NIPT in early screening for common aneuploidies, fetal chromosome anomalies, autosomal trisomies, fetal blood group typing, and maternal constitutional and acquired copy number variants Includes full color imagery that enhances concept illustration, along with detailed descriptions of the benefits (and limitations) of NIPT Offers clinicians, researchers, genetic counselors and reproductive specialists of all kinds the required background information, methodologies and essential patient counseling techniques

Enabling Clinical Genomics by Reducing False Discovery in Next-generation Sequencing Data

Enabling Clinical Genomics by Reducing False Discovery in Next-generation Sequencing Data
A Book

by Kimberly Robasky

  • Publisher : Unknown Publisher
  • Release : 2013
  • Pages : 244
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Abstract: Next-generation sequencing technologies are ushering in the next generation of clinical diagnostics. However, even minute sequencing error rates can make for unwieldy numbers of false positives in single-genome variation analysis, potentially requiring prioritization and validation of hundreds of errors per patient. In order to interpret accurately the variation in an individual whole human genome, it is essential to fully characterize the quality of the data being interpreted. Here I present methods for improving the accuracy of next-generation sequencing variant calls, as well as assessing the specificity, sensitivity and thresholding of those calls. In particular, I present an algorithm for detecting heterozygous deletions that has clinical relevance to the most prevalent neuro-degenerative disease, neuronal ceroid lipofuscinosis (NCL). I describe a platform-independent method for choosing variant calling thresholds, and I present a toolkit for calibrating sequencing quality scores by applying this method to genome replicates (mkSProC). I illustrate the specificity and sensitivity of variables influencing phase confidence to enable targeted experimental phasing and also to quantify confidence in computationally finishing experimental phasing. I combine experimental phasing results with expression data to find allele-specifically expressed (ASE) genes, and describe a feature that I added to a web server of regulatory-motif binding sites (UniPROBE) that can be used for, among other things, finding motifs to potentially explain ASE. Applying the methods I describe to genomic sequence data, expression data and phase data will further our understanding of causal variation and reduce experimental costs through targeted validation.

Lashley's Essentials of Clinical Genetics in Nursing Practice, Second Edition

Lashley's Essentials of Clinical Genetics in Nursing Practice, Second Edition
A Book

by Christine E. Kasper, PhD, RN, FAAN, FACSM,Tonya A. Schneidereith, PhD, CRNP, PPCNP-BC, CPNP-AC,Felissa R. Lashley, PhD, RN, FABMGG

  • Publisher : Springer Publishing Company
  • Release : 2015-09-16
  • Pages : 425
  • ISBN : 0826129137
  • Language : En, Es, Fr & De
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Completely updated to help nurses learn to ìthink geneticallyî Todayís nurses must be able to ìthink geneticallyî to help individuals and families who are affected by genetic disease or contemplating genetic testing. This book is a classic resource for nursing students and practitioners at all levels who need to acquire the knowledge and skills for using genomics in their practice. This completely updated second edition encompasses the many recent advances in genetic research and knowledge, providing essential new information on the science, technology, and clinical application of genomics. It focuses on the provision of individualized patient care based on personal genetics and dispositions. The second edition is designed for use by advanced practice nursing programs, as well as undergraduate programs. It pinpoints new developments in prenatal, maternity, and pediatric issues and supplies new information on genomics-based personal drug therapy, environmental susceptibilities, genetic therapies, epigenetics, and ethics The text features a practical, clinically oriented framework in line with the core competencies defined by the AACN. It delivers information according to a lifespan approach used in the practice setting. The second edition continues to provide basic information on genomics, its impact on healthcare, and genetic disorders. It covers prevention, genetic counseling and referral, neuropsychiatric nursing, and public health. The core of the text presents information on a variety of diseases that affect patients throughout the lifespan, with specific guidance on the nursing role. Also included are tests for a variety of diseases and information on pharmacogenomics, which enable health care providers to select the best drugs for treatment based on a patientís genetic makeup. Plentiful case study examples support the information throughout. Additionally, an instructorís package of PowerPoint slides and a test bank are provided for use at both the graduate and undergraduate levels. New to the Second Edition: Completely updated with several new chapters Personal drug therapy based on genomics Environmental susceptibilities Prenatal detection and diagnosis Newborn and genetic screening Reproductive technologies Ethical issues Genetic therapies Epigenetics Content for graduate-level programs PowerPoint slides and a test bank for all student levels Key Features: Encompasses state-of-the-art genomics from a nursing perspective Provides a practical, clinically oriented lifespan approach Covers science, technology, and clinical application of genomics Addresses prevention, genetic testing, and treatment methods Written for undergraduate- and graduate-level nursing students

Molecular Classification and Clinical Genomics of Medulloblastoma

Molecular Classification and Clinical Genomics of Medulloblastoma
A Book

by J. H. David Shih

  • Publisher : Unknown Publisher
  • Release : 2015
  • Pages : 129
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Genomics and Clinical Diagnostics

Genomics and Clinical Diagnostics
A Book

by David Whitehouse,Ralph Rapley

  • Publisher : Royal Society of Chemistry
  • Release : 2019-01-29
  • Pages : 574
  • ISBN : 1782628215
  • Language : En, Es, Fr & De
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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.

Economic Evaluation in Genomic and Precision Medicine

Economic Evaluation in Genomic and Precision Medicine
A Book

by Christina Mitropoulou,Sarah Wordsworth,George P. Patrinos,James Buchanan

  • Publisher : Academic Press
  • Release : 2020-09
  • Pages : 264
  • ISBN : 9780128133828
  • Language : En, Es, Fr & De
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Economic Evaluation in Genomic and Precision Medicine provides an in-depth examination of essential concepts, protocols and applications of economic evaluation in genomic and precision medicine. Contributions from leading international medical geneticists and health economists compile new ways to effectively assess the costs and outcomes of different genomic care pathways, implement cost-effective medical interventions, and enhance the value of genomic and precision healthcare. Foundational chapters and discipline-specific case studies cover topics ranging from the economic analysis of genomic trial design, to health technology assessment of next-generation sequencing, ethical aspects, economic policy in genomic medicine, and pricing and reimbursement in clinical genomics. Introduces clinicians, researchers and students to essential concepts, protocols and applications of economic evaluation in genomic and precision medicine Demonstrates, through foundational chapters and discipline-specific case studies, how to assess the relative costs and outcomes of different genomic care pathways and implement cost-effective budgets Establishes clear precedents on how genomic technologies can be leveraged to simultaneously reduce costs and enhance the value of healthcare Features contributions from leading international medical geneticists and health economists that are actively evolved in economic assessments of genomic and precision medicine

Genomic and Personalized Medicine

Genomic and Personalized Medicine
A Book

by Anonim

  • Publisher : Academic Press
  • Release : 2012-10-30
  • Pages : 1350
  • ISBN : 0123822289
  • Language : En, Es, Fr & De
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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