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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

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

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

Clinical Applications for Next-Generation Sequencing

Clinical Applications for Next-Generation Sequencing
A Book

by Urszula Demkow,Rafal Ploski

  • Publisher : Academic Press
  • Release : 2015-09-10
  • Pages : 334
  • ISBN : 0128018410
  • Language : En, Es, Fr & De
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Clinical Applications for Next Generation Sequencing provides readers with an outstanding postgraduate resource to learn about the translational use of NGS in clinical environments. Rooted in both medical genetics and clinical medicine, the book fills the gap between state-of-the-art technology and evidence-based practice, providing an educational opportunity for users to advance patient care by transferring NGS to the needs of real-world patients. The book builds an interface between genetic laboratory staff and clinical health workers to not only improve communication, but also strengthen cooperation. Users will find valuable tactics they can use to build a systematic framework for understanding the role of NGS testing in both common and rare diseases and conditions, from prenatal care, like chromosomal abnormalities, up to advanced age problems like dementia. Fills the gap between state-of-the-art technology and evidence-based practice Provides an educational opportunity which advances patient care through the transfer of NGS to real-world patient assessment Promotes a practical tool that clinicians can apply directly to patient care Includes a systematic framework for understanding the role of NGS testing in many common and rare diseases Presents evidence regarding the important role of NGS in current diagnostic strategies

Precision Cancer Medicine

Precision Cancer Medicine
Challenges and Opportunities

by Sameek Roychowdhury,Eliezer M. Van Allen

  • Publisher : Springer Nature
  • Release : 2020-01-02
  • Pages : 196
  • ISBN : 3030236374
  • Language : En, Es, Fr & De
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Genomic sequencing technologies have augmented the classification of cancer beyond tissue of origin and towards a molecular taxonomy of cancer. This has created opportunities to guide treatment decisions for individual patients with cancer based on their cancer’s unique molecular characteristics, also known as precision cancer medicine. The purpose of this text will be to describe the contribution and need for multiple disciplines working together to deliver precision cancer medicine. This entails a multi-disciplinary approach across fields including molecular pathology, computational biology, clinical oncology, cancer biology, drug development, genetics, immunology, and bioethics. Thus, we have outlined a current text on each of these fields as they work together to overcome various challenges and create opportunities to deliver precision cancer medicine. As trainees and junior faculty enter their respective fields, this text will provide a framework for understanding the role and responsibility for each specialist to contribute to this team science approach.

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

Genomic Applications in Pathology

Genomic Applications in Pathology
A Book

by George Jabboure Netto,Iris Schrijver

  • Publisher : Springer
  • Release : 2014-09-16
  • Pages : 622
  • ISBN : 1493907271
  • Language : En, Es, Fr & De
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Genomic Applications in Pathology provides a state-of-the art review of the scientific principles underlying next generation genomic technologies and the required bioinformatics approaches to analyses of the daunting amount of data generated by current and emerging genomic technologies. Implementation roadmaps for various clinical assays such as single gene, gene panels, whole exome and whole genome assays are discussed together with issues related to reporting, including the pathologist’s role in interpretation and clinical integration of genomic tests results. Genomic applications for site-specific solid tumors and hematologic neoplasms are detailed, as well as genomic applications in pharmacogenomics, inherited genetic diseases, and infectious diseases. The latest iteration of practice recommendations and guidelines in genomic testing, put forth by stakeholder professional organizations such as the Association for Molecular Pathology and the College of American Pathologists, are also discussed in the volume, as well as regulatory issues and laboratory accreditation related to genomic testing. Written by experts in the field, Genomic Applications in Pathology provides a comprehensive resource that is of great value to practicing molecular pathologists, hematopathologists, other subspecialized pathologists, general pathologists, pathology trainees, oncologists, and geneticists.​

Mapping and Sequencing the Human Genome

Mapping and Sequencing the Human Genome
A Book

by National Research Council,Division on Earth and Life Studies,Commission on Life Sciences,Committee on Mapping and Sequencing the Human Genome

  • Publisher : National Academies Press
  • Release : 1988-01-01
  • Pages : 128
  • ISBN : 0309038405
  • Language : En, Es, Fr & De
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There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.

Genomics, Circuits, and Pathways in Clinical Neuropsychiatry

Genomics, Circuits, and Pathways in Clinical Neuropsychiatry
A Book

by Thomas Lehner,Bruce L. Miller,Matthew W. State

  • Publisher : Academic Press
  • Release : 2016-06-07
  • Pages : 796
  • ISBN : 0128005300
  • Language : En, Es, Fr & De
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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

Genomic Medicine

Genomic Medicine
Principles and Practice

by Dhavendra Kumar,Charis Eng

  • Publisher : Oxford University Press (UK)
  • Release : 2014
  • Pages : 814
  • ISBN : 019989602X
  • Language : En, Es, Fr & De
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Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

Human Genome Informatics

Human Genome Informatics
Translating Genes into Health

by Christophe Lambert,Darrol Baker,George P. Patrinos

  • Publisher : Academic Press
  • Release : 2018-08-02
  • Pages : 314
  • ISBN : 0128134313
  • Language : En, Es, Fr & De
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Human Genome Informatics: Translating Genes into Health examines the most commonly used electronic tools for translating genomic information into clinically meaningful formats. By analyzing and comparing interpretation methods of whole genome data, the book discusses the possibilities of their application in genomic and translational medicine. Topics such as electronic decision-making tools, translation algorithms, interpretation and translation of whole genome data for rare diseases are thoroughly explored. In addition, discussions of current human genome databases and the possibilities of big data in genomic medicine are presented. With an updated approach on recent techniques and current human genomic databases, the book is a valuable source for students and researchers in genome and medical informatics. It is also ideal for workers in the bioinformatics industry who are interested in recent developments in the field. Provides an overview of the most commonly used electronic tools to translate genomic information Brings an update on the existing human genomic databases that directly impact genome interpretation Summarizes and comparatively analyzes interpretation methods of whole genome data and their application in genomic medicine

Secondary Findings in Genomic Research

Secondary Findings in Genomic Research
A Book

by Anonim

  • Publisher : Academic Press
  • Release : 2020-02-29
  • Pages : 244
  • ISBN : 0128167483
  • Language : En, Es, Fr & De
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Secondary Findings in Genomic Research offers a single, highly accessible resource on interpreting, managing and disclosing secondary findings in genomic research. With chapters written by experts in the field, this book is the first to concisely explain the ethical and practical issues raised by secondary genomics findings for a multi and interdisciplinary audience of genomic researchers, translational scientists, clinicians, medical students, genetic counselors, ethicists, legal experts and law students, public policy specialists and regulators. Contributors from Europe, North America, and Asia effectively synthesize perspectives from a spectrum of different scientific, societal, and global contexts, and offer pragmatic approaches to a range of topics, including oversight, governance and policy surrounding secondary genomic results, criteria for identifying results for return, communication and consent, stakeholders’ attitudes and perspectives, disclosing results, and clinical, patient-centered protocols. Thoroughly addresses the scientific, ethical, practical and clinical issues raised by secondary findings resulting from genomic research, including active debate and challenges in the field Provides researchers, clinicians, regulators, and stakeholders with a holistic, interdisciplinary approach to interpreting, managing and disclosing secondary findings Brings together expert analysis from scholars across Europe, North America, and Asia representing a wide variety of scientific and societal contexts

Cancer Genomics for the Clinician

Cancer Genomics for the Clinician
A Book

by Ramaswamy Govindan, MD,Ashiq Masood, MD

  • Publisher : Springer Publishing Company
  • Release : 2019-01-28
  • Pages : 184
  • ISBN : 082616868X
  • Language : En, Es, Fr & De
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Cancer Genomics for the Clinician is a practical guide to cancer genomics and its application to cancer diagnosis and care. The book begins with a brief overview of the various types of genetic alterations that are encountered in cancer, followed by accessible and applicable information on next generation sequencing technology and bioinformatics; tumor heterogeneity; whole genome, exome, and transcriptome sequencing; epigenomics; and data analysis and interpretation. Each chapter provides essential explanations of concepts, terminology, and methods. Also included are tips for interpreting and analyzing molecular data, as well as a discussion of molecular predictors for targeted therapies covering hematologic malignancies and solid tumors. The final chapter explains the use of FDA-approved genomic-based targeted therapies for breast cancer, lung cancer, sarcomas, gastrointestinal cancers, urologic cancers, head and neck cancer, thyroid cancer, and many more. Assembled in an accessible format specifically designed for the non-expert, this book provides the clinical oncologist, early career practitioner, and trainee with an essential understanding of the molecular and genetic basis of cancer and the clinical aspects that have led to advancements in diagnosis and treatment. With this resource, physicians and trainees will increase their breadth of knowledge and be better equipped to educate patients and families who want to know more about their genetic predispositions to cancer and the targeted therapies that could be considered and prescribed. Key Features: Describes how cancer genomics and next generation sequencing informs cancer screening, risk factors, therapeutic options, and clinical management across cancer types Explains what mutations are, what tests are needed, and how to interpret the results Provides information on FDA-approved targeted therapies that are being used in the clinic Covers different sequencing platforms and technologies and how they perform in research settings Includes access to the fully searchable eBook

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

Realising Genomics in Clinical Practice

Realising Genomics in Clinical Practice
A Book

by Alison Hall,Tom Finnegan,Corinna Alberg

  • Publisher : Gwasg y Bwthyn
  • Release : 2014
  • Pages : 86
  • ISBN : 9781907198151
  • Language : En, Es, Fr & De
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Genomic and Precision Medicine

Genomic and Precision Medicine
Foundations, Translation, and Implementation

by Geoffrey S. Ginsburg,Huntington F Willard

  • Publisher : Academic Press
  • Release : 2016-11-22
  • Pages : 398
  • ISBN : 0128006560
  • Language : En, Es, Fr & De
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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

Next Generation Sequencing

Next Generation Sequencing
Translation to Clinical Diagnostics

by Lee-Jun C. Wong

  • Publisher : Springer Science & Business Media
  • Release : 2013-05-31
  • Pages : 302
  • ISBN : 1461470013
  • Language : En, Es, Fr & De
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In recent years, owing to the fast development of a variety of sequencing technologies in the post human genome project era, sequencing analysis of a group of target genes, entire protein coding regions of the human genome, and the whole human genome has become a reality. Next Generation Sequencing (NGS) or Massively Parallel Sequencing (MPS) technologies offers a way to screen for mutations in many different genes in a cost and time efficient manner by deep coverage of the target sequences. This novel technology has now been applied to clinical diagnosis of Mendelian disorders of well characterized or undefined diseases, discovery of new disease genes, noninvasive prenatal diagnosis using maternal blood, and population based carrier testing of severe autosomal recessive disorders. This book covers topics of these applications, including potential limitations and expanded application in the future. ​

Clinical Applications for Next-Generation Sequencing

Clinical Applications for Next-Generation Sequencing
A Book

by Urszula Demkow,Rafal Ploski

  • Publisher : Academic Press
  • Release : 2015-09-10
  • Pages : 334
  • ISBN : 0128018410
  • Language : En, Es, Fr & De
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Clinical Applications for Next Generation Sequencing provides readers with an outstanding postgraduate resource to learn about the translational use of NGS in clinical environments. Rooted in both medical genetics and clinical medicine, the book fills the gap between state-of-the-art technology and evidence-based practice, providing an educational opportunity for users to advance patient care by transferring NGS to the needs of real-world patients. The book builds an interface between genetic laboratory staff and clinical health workers to not only improve communication, but also strengthen cooperation. Users will find valuable tactics they can use to build a systematic framework for understanding the role of NGS testing in both common and rare diseases and conditions, from prenatal care, like chromosomal abnormalities, up to advanced age problems like dementia. Fills the gap between state-of-the-art technology and evidence-based practice Provides an educational opportunity which advances patient care through the transfer of NGS to real-world patient assessment Promotes a practical tool that clinicians can apply directly to patient care Includes a systematic framework for understanding the role of NGS testing in many common and rare diseases Presents evidence regarding the important role of NGS in current diagnostic strategies

Next-Generation Sequencing in Medicine

Next-Generation Sequencing in Medicine
A Book

by W. Richard McCombie,Elaine Mardis,John D. Mcpherson,James A. Knowles

  • Publisher : Perspectives Cshl
  • Release : 2019-01-31
  • Pages : 350
  • ISBN : 9781621821137
  • Language : En, Es, Fr & De
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Next-generation sequencing technologies have the capacity to generate large numbers of DNA sequence reads at relatively high speed and low cost. These technologies have revolutionized biomedical research and are increasingly employed in clinical settings, where they can be used to detect inherited disorders, predict disease risk, and personalize therapies. Written and edited by experts in the field, this collection from Cold Spring Harbor Perspectives in Medicine examines next-generation sequencing technologies and their use, particularly in translational research. The contributors discuss the various sequencing platforms, their capabilities, and their applications in both research and clinical practice. The roles of next-generation sequencing in diagnosing autism and intellectual disabilities, monitoring cancers during disease progression, and determining the most appropriate drug treatments for patients are also covered. In addition, the authors consider the practical challenges (e.g., data storage) and ethical implications of using next-generation sequencing technologies. This volume is therefore an essential read for all scientists and physicians interested in these technologies and how they are impacting biomedicine.

Clinical DNA Variant Interpretation

Clinical DNA Variant Interpretation
Theory and Practice

by Conxi Lázaro,Jordan Lerner-Ellis,Amanda Spurdle

  • Publisher : Academic Press
  • Release : 2020-11-01
  • Pages : 464
  • ISBN : 0128205202
  • Language : En, Es, Fr & De
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We live in a very exciting time in the field of human genetics; NGS technology is generating enormous amounts of data for classifying genetic variants. However, defining the role of these variants in human health and disease can be difficult, especially when a variant’s mechanism of action or the phenotype associated with a genetic mutation are not well defined. Work in multidisciplinary teams and development of multifactorial algorithms, including artificial intelligence and machine learning approaches, are integral to streamlining variant classification. Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, brings more than thirty international experts together to compile variant interpretation best practices and approaches in a single volume, covering 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 and somatic profiling; CNV interpretation; quantitative modeling; machine learning approaches; genomic data sharing; genetic testing in clinical practice; and holistic case-level interpretation. Biomedical specialties of relevance include internal medicine, medical genetics, oncology, psychiatry, neurology, and immunology, and those driving implementation of precision medicine and personalized treatments. 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