Clinical DNA Variant Interpretation

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  • Publisher : Academic Press
  • Release : 27 February 2021
  • ISBN : 9780128205204
  • Page : 436 pages
  • Rating : 4.5/5 from 103 voters

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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

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Clinical DNA Variant Interpretation

Clinical DNA Variant Interpretation
  • Author : Conxi Lázaro,Jordan Lerner-Ellis,Amanda Spurdle
  • Publisher : Academic Press
  • Release Date : 2021-02-27
  • ISBN : 9780128205204
GET THIS BOOKClinical DNA Variant Interpretation

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,

Clinical Precision Medicine

Clinical Precision Medicine
  • Author : Judy S. Crabtree
  • Publisher : Academic Press
  • Release Date : 2019-11-15
  • ISBN : 9780128204023
GET THIS BOOKClinical Precision Medicine

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 Genomics

Clinical Genomics
  • Author : Shashikant Kulkarni,John Pfeifer
  • Publisher : Academic Press
  • Release Date : 2014-11-10
  • ISBN : 9780124051737
GET THIS BOOKClinical Genomics

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

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
  • ISBN : 9780128018415
GET THIS BOOKClinical Applications for Next-Generation Sequencing

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,

Clinical Genome Sequencing

Clinical Genome Sequencing
  • Author : Aad Tibben,Barbara B. Biesecker
  • Publisher : Academic Press
  • Release Date : 2019-03-30
  • ISBN : 9780128133361
GET THIS BOOKClinical Genome Sequencing

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,

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
  • Publisher : National Academies Press
  • Release Date : 2012-02-06
  • ISBN : 9780309220378
GET THIS BOOKIntegrating Large-Scale Genomic Information into Clinical Practice

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

Molecular Diagnostics

Molecular Diagnostics
  • Author : George P. Patrinos,Wilhelm Ansorge,Phillip B. Danielson
  • Publisher : Academic Press
  • Release Date : 2016-10-27
  • ISBN : 9780128029886
GET THIS BOOKMolecular Diagnostics

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

Long-Range Control of Gene Expression

Long-Range Control of Gene Expression
  • Author : Veronica van Heyningen,Robert E Hill
  • Publisher : Academic Press
  • Release Date : 2011-09-02
  • ISBN : 0080877818
GET THIS BOOKLong-Range Control of Gene Expression

Long-Range Control of Gene Expression covers the current progress in understanding the mechanisms for genomic control of gene expression, which has grown considerably in the last few years as insight into genome organization and chromatin regulation has advanced. Discusses the evolution of cis-regulatory sequences in drosophila Includes information on genomic imprinting and imprinting defects in humans Includes a chapter on epigenetic gene regulation in cancer

Cardiovascular Genomics

Cardiovascular Genomics
  • Author : Mohan K. Raizada,Julian F. R. Paton,Michael J. Katovich,Sergey Kasparov
  • Publisher : Springer Science & Business Media
  • Release Date : 2008-02-24
  • ISBN : 9781592598830
GET THIS BOOKCardiovascular Genomics

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

Evolution of Translational Omics

Evolution of Translational Omics
  • Author : Institute of Medicine,Board on Health Sciences Policy,Board on Health Care Services,Committee on the Review of Omics-Based Tests for Predicting Patient Outcomes in Clinical Trials
  • Publisher : National Academies Press
  • Release Date : 2012-09-13
  • ISBN : 9780309224185
GET THIS BOOKEvolution of Translational Omics

Technologies collectively called omics enable simultaneous measurement of an enormous number of biomolecules; for example, genomics investigates thousands of DNA sequences, and proteomics examines large numbers of proteins. Scientists are using these technologies to develop innovative tests to detect disease and to predict a patient's likelihood of responding to specific drugs. Following a recent case involving premature use of omics-based tests in cancer clinical trials at Duke University, the NCI requested that the IOM establish a committee to recommend ways

Genetic Variants in Alzheimer's Disease

Genetic Variants in Alzheimer's Disease
  • Author : Kevin Morgan,Minerva M. Carrasquillo
  • Publisher : Springer Science & Business Media
  • Release Date : 2013-06-22
  • ISBN : 9781461473091
GET THIS BOOKGenetic Variants in Alzheimer's Disease

Alzheimer’s Disease is the most common form of dementia. The disease is characterised by the loss of synapses and neurons in the cerebral cortex and certain subcortical regions. In the last three years, the genetics of Alzheimer’s Disease has made significant advances; in fact, one could argue more than in the previous two decades. This has resulted in the identification of nine new genes and perhaps more importantly the realization that new pathways could be involved in the

Clinical Bioinformatics

Clinical Bioinformatics
  • Author : Ronald J. A. Trent
  • Publisher : Humana Press
  • Release Date : 2016-08-23
  • ISBN : 1493947001
GET THIS BOOKClinical Bioinformatics

In Clinical Bioinformatics, Second Edition, leading experts in the field provide a series of articles focusing on software applications used to translate information into outcomes of clinical relevance. Recent developments in omics, such as increasingly sophisticated analytic platforms allowing changes in diagnostic strategies from the traditional focus on single or small number of analytes to what might be possible when large numbers or all analytes are measured, are now impacting patient care. Covering such topics as gene discovery, gene function (

Human Gene Mutation

Human Gene Mutation
  • Author : David N. Cooper,Michael Krawczak
  • Publisher : Taylor & Francis
  • Release Date : 1995
  • ISBN : 1859960553
GET THIS BOOKHuman Gene Mutation

Within the last decade, much progress has been made in the analysis and diagnosis of human inherited disease, and in the characterization of the underlying genes and their associated pathological lesions.

Toward Precision Medicine

Toward Precision Medicine
  • Author : National Research Council,Division on Earth and Life Studies,Board on Life Sciences,Committee on A Framework for Developing a New Taxonomy of Disease
  • Publisher : National Academies Press
  • Release Date : 2012-01-16
  • ISBN : 9780309222228
GET THIS BOOKToward Precision Medicine

Motivated by the explosion of molecular data on humans-particularly data associated with individual patients-and the sense that there are large, as-yet-untapped opportunities to use this data to improve health outcomes, Toward Precision Medicine explores the feasibility and need for "a new taxonomy of human disease based on molecular biology" and develops a potential framework for creating one. The book says that a new data network that integrates emerging research on the molecular makeup of diseases with clinical data on individual

Mutations in Human Genetic Disease

Mutations in Human Genetic Disease
  • Author : David Cooper,Jian-Min Chen
  • Publisher : BoD – Books on Demand
  • Release Date : 2012-10-12
  • ISBN : 9789535107903
GET THIS BOOKMutations in Human Genetic Disease

Different types of mutation can vary in size, from structural variants to single base-pair substitutions, but what they all have in common is that their nature, size and location are often determined either by specific characteristics of the local DNA sequence environment or by higher order features of the genomic architecture. The genomes of higher organisms are now known to contain "pervasive architectural flaws" in that certain DNA sequences are inherently mutation prone by virtue of their base composition, sequence