Clinical DNA Variant Interpretation

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

Clinical DNA Variant Interpretation Book Review:

Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, covers foundational aspects, modes of analysis, technology, disease and disorder specific case studies, and clinical integration. This book provides a deep theoretical background, as well as applied case studies and methodology, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes. Practical chapters discuss genomic variant interpretation, terminology and nomenclature, international consensus guidelines, population allele frequency, functional evidence transcripts for RNA, proteins, and enzymes, somatic mutations, somatic profiling, and much more. Compiles best practices, methods and sound evidence for DNA variant classification in one applied volume Features chapter contributions from international leaders in the field Includes practical examples of variant classification for common and rare disorders, and across clinical phenotypes

Clinical Genomics

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

Clinical Genomics Book Review:

Clinical Genomics provides an overview of the various next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. It presents key bioinformatic challenges and the solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. This book is also focused on the challenges of diagnostic interpretation of NGS results in a clinical setting. Its final sections are devoted to the emerging regulatory issues that will govern clinical use of NGS, and reimbursement paradigms that will affect the way in which laboratory professionals get paid for the testing. Simplifies complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists towards genomic medicine paradigm Tried and tested practice-based analysis for precision diagnosis and treatment plans Specific pipelines and meta-analysis for full range of clinically important variants

Managing Health in the Genomic Era

Managing Health in the Genomic Era
Author: Vincent Henrich,Lori A. Orlando,Brian H. Shirts
Publsiher: Academic Press
Total Pages: 238
Release: 2020-06-27
ISBN 10: 0128160160
ISBN 13: 9780128160169
Language: EN, FR, DE, ES & NL

Managing Health in the Genomic Era Book Review:

In Managing Health in the Genomic Era: A Guide to Family Health History and Disease Risk, Drs. Vincent C. Henrich, Lori A. Orlando, and Brian H. Shirts discuss the practical considerations surrounding the use of genomic and genetic tests to manage patient health, to provide adult disease risk assessment, to improve diagnosis, and to support effective interventions and treatment. In 10 chapters, evidence-based information and case studies are described and examine the central place of family health history (FHH) in genomic medicine, tools and strategies for compiling and analyzing family health history, how to identify existing and novel genetic markers, how to identify lineage specific (or rare) variants within families, and how to find effective interventions based on genetic testing results and FHH. Factors that influence clinical practice, including gene-environment interactions, FHH social networking, direct to consumer (DTC) genetic testing and data sharing, algorithms for analyzing genetic data, and patient counseling are discussed from the standpoint of clinical practice. Here, frontline healthcare providers will discover succinct commentary and key examples to assist with their local needs. Relevant principles of genetic biology and inheritance are explored and guidance on available support networks and online resources is also provided Presents a practical, accessible resource for primary care providers, allied health professionals, pharmacologists, public health professionals, students and clinical researchers Addresses genetic and genomic approaches in managing patient health, conducting and analyzing family health histories, and assessing adult disease risk Features an expert author team with direct experience integrating genetics and genomics in primary care and family medicine settings Examines the attributes and limitations of family health history, genetic testing, and genomic testing in clinical practice Includes detailed explanations following practice-based examples

Clinical Precision Medicine

Clinical Precision Medicine
Author: Judy S. Crabtree
Publsiher: Academic Press
Total Pages: 112
Release: 2019-11-15
ISBN 10: 0128204028
ISBN 13: 9780128204023
Language: EN, FR, DE, ES & NL

Clinical Precision Medicine Book Review:

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

Clinical Applications for Next Generation Sequencing

Clinical Applications for Next Generation Sequencing
Author: Urszula Demkow,Rafal Ploski
Publsiher: Academic Press
Total Pages: 334
Release: 2015-09-10
ISBN 10: 0128018410
ISBN 13: 9780128018415
Language: EN, FR, DE, ES & NL

Clinical Applications for Next Generation Sequencing Book Review:

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

Molecular Diagnostics

Molecular Diagnostics
Author: George P. Patrinos,Wilhelm Ansorge,Phillip B. Danielson
Publsiher: Academic Press
Total Pages: 520
Release: 2016-10-27
ISBN 10: 0128029889
ISBN 13: 9780128029886
Language: EN, FR, DE, ES & NL

Molecular Diagnostics Book Review:

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

Precision Medicine A Guide to Genomics in Clinical Practice

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

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

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

Clinical Genome Sequencing

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

Clinical Genome Sequencing Book Review:

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

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

Emery and Rimoin   s Principles and Practice of Medical Genetics and Genomics
Author: Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
Publsiher: Academic Press
Total Pages: 318
Release: 2021-11-02
ISBN 10: 0128152370
ISBN 13: 9780128152379
Language: EN, FR, DE, ES & NL

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

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

Modern Medical Genetics and Genomics

Modern Medical Genetics and Genomics
Author: Israel Gomy
Publsiher: BoD – Books on Demand
Total Pages: 104
Release: 2019-12-18
ISBN 10: 183968142X
ISBN 13: 9781839681424
Language: EN, FR, DE, ES & NL

Modern Medical Genetics and Genomics Book Review:

The field of medical genetics and genomics has been constantly revolutionized by new breakthroughs, which bring more knowledge into the etiology and help improve the health care of individuals with either rare or common diseases. Nevertheless, as technologies evolve, novel challenges emerge, both technically and ethically, so they must be prudentially addressed. Among the myriad applications of genomics in medicine, this book depicts a glimpse of the advances achieved that have been leading us to the personalized/precision medicine era.

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

Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics
Author: Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
Publsiher: Elsevier
Total Pages: 318
Release: 2021-11-29
ISBN 10: 0128152362
ISBN 13: 9780128152362
Language: EN, FR, DE, ES & NL

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

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

Exome Sequence Analysis and Interpretation

Exome Sequence Analysis and Interpretation
Author: Vinod Scaria,Sridhar Sivasubbu
Publsiher: Research in Genomics
Total Pages: 124
Release: 2015-02-11
ISBN 10: 1928374650XXX
ISBN 13: 9182736450XXX
Language: EN, FR, DE, ES & NL

Exome Sequence Analysis and Interpretation Book Review:

A concise handbook on exome sequencing for clinicians and clinical geneticists.

Genomics Circuits and Pathways in Clinical Neuropsychiatry

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

Genomics Circuits and Pathways in Clinical Neuropsychiatry Book Review:

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

The Genetics of Cancer

The Genetics of Cancer
Author: B.A. Ponder,M.J. Waring
Publsiher: Springer Science & Business Media
Total Pages: 221
Release: 2012-12-06
ISBN 10: 9401106770
ISBN 13: 9789401106771
Language: EN, FR, DE, ES & NL

The Genetics of Cancer Book Review:

It has been recognized for almost 200 years that certain families seem to inherit cancer. It is only in the past decade, however, that molecular genetics and epidemiology have combined to define the role of inheritance in cancer more clearly, and to identify some of the genes involved. The causative genes can be tracked through cancer-prone families via genetic linkage and positional cloning. Several of the genes discovered have subsequently been proved to play critical roles in normal growth and development. There are also implications for the families themselves in terms of genetic testing with its attendant dilemmas, if it is not clear that useful action will result. The chapters in The Genetics of Cancer illustrate what has already been achieved and take a critical look at the future directions of this research and its potential clinical applications.

Analysis of Human Genetic Linkage

Analysis of Human Genetic Linkage
Author: Jurg Ott
Publsiher: JHU Press
Total Pages: 382
Release: 1999-04-16
ISBN 10: 9780801861406
ISBN 13: 0801861403
Language: EN, FR, DE, ES & NL

Analysis of Human Genetic Linkage Book Review:

Introduction and basic genetic principles; Genetic loci genetic polymorphisms; Aspects of statistical inference; Basics of linkage analysis; The informativeness of family data; Multipoint linkage analysis; Penetrance; Quantitative phenotypes; Numerical and computerized methods; Variability of the recombination fraction; Inconsistencies; Linkage analysis with mendelian disease loci; Nonparametric methods; Two-locus inheritance; Complex traits.

Next Generation Sequencing

Next Generation Sequencing
Author: Jerzy Kulski
Publsiher: BoD – Books on Demand
Total Pages: 464
Release: 2016-01-14
ISBN 10: 9535122401
ISBN 13: 9789535122401
Language: EN, FR, DE, ES & NL

Next Generation Sequencing Book Review:

Next generation sequencing (NGS) has surpassed the traditional Sanger sequencing method to become the main choice for large-scale, genome-wide sequencing studies with ultra-high-throughput production and a huge reduction in costs. The NGS technologies have had enormous impact on the studies of structural and functional genomics in all the life sciences. In this book, Next Generation Sequencing Advances, Applications and Challenges, the sixteen chapters written by experts cover various aspects of NGS including genomics, transcriptomics and methylomics, the sequencing platforms, and the bioinformatics challenges in processing and analysing huge amounts of sequencing data. Following an overview of the evolution of NGS in the brave new world of omics, the book examines the advances and challenges of NGS applications in basic and applied research on microorganisms, agricultural plants and humans. This book is of value to all who are interested in DNA sequencing and bioinformatics across all fields of the life sciences.

Cardiovascular Genomics

Cardiovascular Genomics
Author: Mohan K. Raizada,Julian F. R. Paton,Michael J. Katovich,Sergey Kasparov
Publsiher: Springer Science & Business Media
Total Pages: 362
Release: 2008-02-24
ISBN 10: 1592598838
ISBN 13: 9781592598830
Language: EN, FR, DE, ES & NL

Cardiovascular Genomics Book Review:

Recognized scientists and clinicians from around the world discuss the most recent molecular approaches to understanding the cardiovascular system in both health and disease. The authors focus on all components of the system, including blood vessels, heart, kidneys, and the brain, and cover disease states ranging from vascular and cardiac dysfunction to stroke and hypertension. The methods described for identifying the genes that cause susceptibility to cardiovascular diseases emphasize the possibility of discovering new drug targets. Authoritative and ground-breaking, Cardiovascular Genomics offers an unprecedented examination of both the cutting-edge scientific approaches now possible and the results obtained from them in the new science of cardiovascular genomics.

Genomic Disorders

Genomic Disorders
Author: James R. Lupski,Pawel T. Stankiewicz
Publsiher: Springer Science & Business Media
Total Pages: 426
Release: 2007-11-10
ISBN 10: 1597450391
ISBN 13: 9781597450393
Language: EN, FR, DE, ES & NL

Genomic Disorders Book Review:

A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.

Nonsense Mediated mRNA Decay

Nonsense Mediated mRNA Decay
Author: Lynne E. Maquat
Publsiher: CRC Press
Total Pages: 277
Release: 2006-02-28
ISBN 10: 1498713394
ISBN 13: 9781498713399
Language: EN, FR, DE, ES & NL

Nonsense Mediated mRNA Decay Book Review:

Nonsense-Mediated mRNA Decay is the first book devoted to nonsense-mediated mRNA decay (NMD). The rationale for such a book is the enormous information that studies of NMD have provided on the intricacies of post-transcriptional gene expression. The first five sections of the book are divided according to organism and begin with chapters on S. cere

Integrating Large Scale Genomic Information into Clinical Practice

Integrating Large Scale Genomic Information into Clinical Practice
Author: Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publsiher: National Academies Press
Total Pages: 112
Release: 2012-02-06
ISBN 10: 0309220378
ISBN 13: 9780309220378
Language: EN, FR, DE, ES & NL

Integrating Large Scale Genomic Information into Clinical Practice Book Review:

The initial sequencing of the human genome, carried out by an international group of experts, took 13 years and $2.7 billion to complete. In the decade since that achievement, sequencing technology has evolved at such a rapid pace that today a consumer can have his or her entire genome sequenced by a single company in a matter of days for less than $10,000, though the addition of interpretation may extend this timeframe. Given the rapid technological advances, the potential effect on the lives of patients, and the increasing use of genomic information in clinical care, it is important to address how genomics data can be integrated into the clinical setting. Genetic tests are already used to assess the risk of breast and ovarian cancers, to diagnose recessive diseases such as cystic fibrosis, to determine drug dosages based on individual patient metabolism, and to identify therapeutic options for treating lung and breast tumors, melanoma, and leukemia. With these issues in mind and considering the potential impact that genomics information can have on the prevention, diagnosis, and treatment of disease, the Roundtable on Translating Genomic-Based Research for Health hosted a workshop on July 19, 2011, to highlight and identify the challenges and opportunities in integrating large-scale genomic information into clinical practice. Integrating Large-Scale Genomic Information into Clinical Practice summarizes the speaker presentations and the discussions that followed them. This report focuses on several key topics, including the analysis, interpretation, and delivery of genomic information plus workforce, ethical, and legal issues.