November 24, 2020

Download Ebook Free Clinical DNA Variant Interpretation

Clinical DNA Variant Interpretation

Clinical DNA Variant Interpretation
Author : Conxi Lázaro,Jordan Lerner-Ellis,Amanda Spurdle
Publisher : Academic Press
Release Date : 2020-11-01
Category : Medical
Total pages :464
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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

Clinical Genomics

Clinical Genomics
Author : Shashikant Kulkarni,John Pfeifer
Publisher : Academic Press
Release Date : 2014-11-10
Category : Science
Total pages :488
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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

Medical and Health Genomics

Medical and Health Genomics
Author : Dhavendra Kumar,Stylianos Antonarakis
Publisher : Academic Press
Release Date : 2016-06-04
Category : Science
Total pages :358
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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

Clinical Immunology E-Book

Clinical Immunology E-Book
Author : Robert R. Rich,Thomas A. Fleisher,William T. Shearer,Harry W. Schroeder Jr.,Anthony J. Frew,Cornelia M. Weyand
Publisher : Elsevier Health Sciences
Release Date : 2018-01-13
Category : Medical
Total pages :1323
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Keep abreast of the latest advances in this complex field with the 5th Edition of Clinical Immunology: Principles and Practice. This substantially revised edition by Drs. Robert R. Rich, Thomas A. Fleisher, William T. Shearer, Harry W. Schroeder, Jr., Anthony J. Frew, and Cornelia M. Weyand, offers authoritative guidance from some of the most respected global leaders in immunology, helping you navigate today’s latest knowledge and evidence-based practices that result in improved patient care. This trusted resource features sweeping content updates, rewritten chapters, a highly clinical perspective, and an easy-to-use organization designed to enhance your diagnosis and management skills in daily practice. Includes new chapters on the Microbiota in Immunity and Inflammation, Immune Responses to Fungi, and Genetics and Genomics of Immune Response. Features extensive revisions to many chapters, including the Major Histocompatibility Complex, Multiple Sclerosis, Diabetes and Related Autoimmune Diseases, Biologic Modifiers of Inflammation and Tumor Immunotherapy. Covers hot topics such as the role of genetics and genomics in immune response and immunologic disease, atherosclerosis, recurrent fever syndromes, aging and deficiencies of innate immunity, the role of microbiota in normal immune system development and the pathogenesis of immunologic and inflammatory diseases, and novel therapeutics. Addresses notable advances in key areas such as the importance of the microbiota to normal immune system development and to the pathogenesis of immunologic and inflammatory diseases; relationships between the innate and adaptive immune systems; progress in rapid and cost-effective genomics; cell signaling pathways and the structure of cell-surface molecules; and many more. Summarizes promising research and development anticipated over the next 5-10 years with "On the Horizon" boxes and discussion of translational research.

Advances in Molecular Pathology, E-Book 2019

Advances in Molecular Pathology, E-Book 2019
Author : Gregory J. Tsongalis
Publisher : Elsevier Health Sciences
Release Date : 2019-11-06
Category : Medical
Total pages :129
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This issue of Advances in Molecular Pathology will provide a comprehensive review of the most current practices, trends, and developments in the field of Molecular Pathology. Publishing on an annual basis, the volume will be divided into 7 sections: Genetics, Hematopathology, Infectious Disease, Pharmacogenomics, Informatics, Solid tumors, and Identity/HLA. Led by Dr. Gregory Tsongalis of Dartmouth University, a team of experienced pathologists from institutions across the country oversee annual topic and expert author selection.

Precision Medicine in Practice: Molecular Diagnosis Enabling Precision Therapies, An Issue of the Clinics in Laboratory Medicine, EBook

Precision Medicine in Practice: Molecular Diagnosis Enabling Precision Therapies, An Issue of the Clinics in Laboratory Medicine, EBook
Author : Ryan J. Schmidt
Publisher : Elsevier Health Sciences
Release Date : 2020-06-21
Category : Medical
Total pages :240
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This issue of Clinics in Laboratory Medicine will cover Precision Medicine in Practice: Molecular Diagnosis Enabling Precision Therapies. Curated by Dr. Ryan J. Schmidt, this issue is one of four selected each year by the series Consulting Editor, Milenko Tanasijevic. The volume will include articles on: Features of a Comprehensive Precision Medicine Program for Constitutional Genetic Disorders, Establishing a Precision Medicine Center of Excellence for Rare Disease, High-throughput DNA Sequencing for Rare Disease Diagnosis, Enhancing Diagnosis through RNA Sequencing, Interpretation of Rare Genetic Variants, Clinical Bioinformatics, Precision Therapies for Retinal Dystrophy, Precision Therapies for Muscular Dystrophy, Therapeutic Gene Editing, High Throughput Functional Studies of Genetic Variants, and Patient-specific Disease Models.

'Essentials of Cancer Genomic, Computational Approaches and Precision Medicine

'Essentials of Cancer Genomic, Computational Approaches and Precision Medicine
Author : Nosheen Masood,Saima Shakil Malik
Publisher : Springer Nature
Release Date : 2020-03-20
Category : Medical
Total pages :499
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This book concisely describes the role of omics in precision medicine for cancer therapies. It outlines our current understanding of cancer genomics, shares insights into the process of oncogenesis, and discusses emerging technologies and clinical applications of cancer genomics in prognosis and precision-medicine treatment strategies. It then elaborates on recent advances concerning transcriptomics and translational genomics in cancer diagnosis, clinical applications, and personalized medicine in oncology. Importantly, it also explains the importance of high-performance analytics, predictive modeling, and system biology in cancer research. Lastly, the book discusses current and potential future applications of pharmacogenomics in clinical cancer therapy and cancer drug development.

Molecular Diagnostics

Molecular Diagnostics
Author : George P. Patrinos,Wilhelm Ansorge,Phillip B. Danielson
Publisher : Academic Press
Release Date : 2016-10-27
Category : Medical
Total pages :520
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Molecular Diagnostics, Third Edition, focuses on the technologies and applications that professionals need to work in, develop, and manage a clinical diagnostic laboratory. Each chapter contains an expert introduction to each subject that is next to technical details and many applications for molecular genetic testing that can be found in comprehensive reference lists at the end of each chapter. Contents are divided into three parts, technologies, application of those technologies, and related issues. The first part is dedicated to the battery of the most widely used molecular pathology techniques. New chapters have been added, including the various new technologies involved in next-generation sequencing (mutation detection, gene expression, etc.), mass spectrometry, and protein-specific methodologies. All revised chapters have been completely updated, to include not only technology innovations, but also novel diagnostic applications. As with previous editions, each of the chapters in this section includes a brief description of the technique followed by examples from the area of expertise from the selected contributor. The second part of the book attempts to integrate previously analyzed technologies into the different aspects of molecular diagnostics, such as identification of genetically modified organisms, stem cells, pharmacogenomics, modern forensic science, molecular microbiology, and genetic diagnosis. Part three focuses on various everyday issues in a diagnostic laboratory, from genetic counseling and related ethical and psychological issues, to safety and quality management. Presents a comprehensive account of all new technologies and applications used in clinical diagnostic laboratories Explores a wide range of molecular-based tests that are available to assess DNA variation and changes in gene expression Offers clear translational presentations by the top molecular pathologists, clinical chemists, and molecular geneticists in the field

Next Generation Sequencing

Next Generation Sequencing
Author : Lee-Jun C. Wong
Publisher : Springer Science & Business Media
Release Date : 2013-05-31
Category : Medical
Total pages :302
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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
Author : Urszula Demkow,Rafal Ploski
Publisher : Academic Press
Release Date : 2015-09-10
Category : Science
Total pages :334
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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

Clinical Precision Medicine

Clinical Precision Medicine
Author : Judy S. Crabtree
Publisher : Academic Press
Release Date : 2019-11-15
Category : Medical
Total pages :112
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Clinical Precision Medicine: A Primer offers clinicians, researchers and students a practical, up-to-date resource on precision medicine, its evolving technologies, and pathways towards clinical implementation. Early chapters address the fundamentals of molecular biology and gene regulation as they relate to precision medicine, as well as the foundations of heredity and epigenetics. Oncology, an early adopter of precision approaches, is considered with its relationship to genetic variation in drug metabolism, along with tumor immunology and the impact of DNA variation in clinical care. Contributions by Stephanie Kramer, a Clinical Genetic Counselor, also provide current information on prenatal diagnostics and adult genetics that highlight the critical role of genetic counselors in the era of precision medicine. Includes applied discussions of chromosomes and chromosomal abnormalities, molecular genetics, epigenetic regulation, heredity, clinical genetics, pharmacogenomics and immunogenomics Features chapter contributions from leaders in the field Consolidates fundamental concepts and current practices of precision medicine in one convenient resource

Genetic Hearing Loss

Genetic Hearing Loss
Author : Patrick J. Willems
Publisher : CRC Press
Release Date : 2003-10-17
Category : Medical
Total pages :406
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Heredity, either alone or in combination with environmental factors, is the most prominent underlying cause of hearing impairment. Thanks in large part to positional cloning techniques, scientists have identified nearly 100 gene loci implicated in hearing loss since 1995-an extraordinarily rapid rate of gene identification. Genetic Hearing Loss branches into syndromic and nonsyndromic categorical directions in its coverage of the genetics behind hearing loss. Authored by 60 internationally recognized researchers, the book describes the normal development of the ear, updates the classification and epidemiology of hearing loss, and surveys the usage of audiometric tests and diagnostic medical examinations.

Clinical Genome Sequencing

Clinical Genome Sequencing
Author : Aad Tibben,Barbara B. Biesecker
Publisher : Academic Press
Release Date : 2019-03-30
Category : Medical
Total pages :258
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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

Human Reproductive Genetics

Human Reproductive Genetics
Author : Juan A. Garcia-Velasco,Emre Seli
Publisher : Academic Press
Release Date : 2020-04-19
Category : Medical
Total pages :340
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Human Reproductive Genetics: Emerging Technologies and Clinical Applications presents a great reference for clinicians and researchers in reproductive medicine. Part I includes a brief background of genetics and epigenetics, probability of disease, and the different techniques that are being used today for analysis and genetic counseling. Part II focuses on the analysis of the embryo, current controversies and future concepts. Part III comprises different clinical scenarios that clinicians frequently face in practice. The increasing amount of genetic tests available and the growing information that patients handle makes this section a relevant part of the fertility treatment discussion. Finally, Part IV concludes with the psychological aspects of genetic counseling and the role of counselor and bioethics in human reproduction. Provides an essential reference for clinicians involved in reproductive medicine Builds foundational knowledge on new genetic tests coming into the clinical scenario for physicians involved with patients Assembles critically evaluated chapters that cover basic concepts of genetics and epigenetics and the techniques involved, including preimplantation genetic testing, controversies, and more

Human Genome Informatics

Human Genome Informatics
Author : Christophe Lambert,Darrol Baker,George P. Patrinos
Publisher : Academic Press
Release Date : 2018-08-02
Category : Medical
Total pages :314
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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