Clinical DNA Variant Interpretation

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

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  • Author : Conxi Lázaro
  • Publisher : Academic Press
  • Pages : 464 pages
  • ISBN : 0128205202
  • Rating : 4/5 from 21 reviews
CLICK HERE TO GET THIS BOOKClinical DNA Variant Interpretation

Clinical DNA Variant Interpretation

Clinical DNA Variant Interpretation
  • Author : Conxi Lázaro,Jordan Lerner-Ellis,Amanda Spurdle
  • Publisher : Academic Press
  • Release : 01 November 2020
GET THIS BOOKClinical DNA Variant Interpretation

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

Clinical Genomics

Clinical Genomics
  • Author : Shashikant Kulkarni,John Pfeifer
  • Publisher : Academic Press
  • Release : 10 November 2014
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

Next Generation Sequencing

Next Generation Sequencing
  • Author : Lee-Jun C. Wong
  • Publisher : Springer Science & Business Media
  • Release : 31 May 2013
GET THIS BOOKNext Generation Sequencing

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

Clinical Precision Medicine

Clinical Precision Medicine
  • Author : Judy S. Crabtree
  • Publisher : Academic Press
  • Release : 15 November 2019
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

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Understanding Genetics
  • Author : Genetic Alliance,New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services
  • Publisher : Lulu.com
  • Release : 24 February 2021
GET THIS BOOKUnderstanding Genetics

The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care,

Genomics, Circuits, and Pathways in Clinical Neuropsychiatry

Genomics, Circuits, and Pathways in Clinical Neuropsychiatry
  • Author : Thomas Lehner,Bruce L. Miller,Matthew W. State
  • Publisher : Academic Press
  • Release : 07 June 2016
GET THIS BOOKGenomics, Circuits, and Pathways in Clinical Neuropsychiatry

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

Clinical Applications for Next-Generation Sequencing

Clinical Applications for Next-Generation Sequencing
  • Author : Urszula Demkow,Rafal Ploski
  • Publisher : Academic Press
  • Release : 10 September 2015
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,

Genomic Disorders

Genomic Disorders
  • Author : James R. Lupski,Pawel T. Stankiewicz
  • Publisher : Springer Science & Business Media
  • Release : 10 November 2007
GET THIS BOOKGenomic Disorders

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

Medical and Health Genomics

Medical and Health Genomics
  • Author : Dhavendra Kumar,Stylianos Antonarakis
  • Publisher : Academic Press
  • Release : 04 June 2016
GET THIS BOOKMedical and Health Genomics

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

Molecular Diagnostics

Molecular Diagnostics
  • Author : George P. Patrinos,Wilhelm Ansorge,Phillip B. Danielson
  • Publisher : Academic Press
  • Release : 27 October 2016
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

Nonsense-Mediated mRNA Decay

Nonsense-Mediated mRNA Decay
  • Author : Lynne E. Maquat
  • Publisher : CRC Press
  • Release : 28 February 2006
GET THIS BOOKNonsense-Mediated mRNA Decay

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

Assessing Genetic Risks

Assessing Genetic Risks
  • Author : Institute of Medicine,Committee on Assessing Genetic Risks
  • Publisher : National Academies Press
  • Release : 01 January 1994
GET THIS BOOKAssessing Genetic Risks

Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decisionmaking, public health

Human Genome Informatics

Human Genome Informatics
  • Author : Christophe Lambert,Darrol Baker,George P. Patrinos
  • Publisher : Academic Press
  • Release : 02 August 2018
GET THIS BOOKHuman Genome Informatics

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

Human Reproductive Genetics

Human Reproductive Genetics
  • Author : Juan A. Garcia-Velasco,Emre Seli
  • Publisher : Academic Press
  • Release : 19 April 2020
GET THIS BOOKHuman Reproductive Genetics

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

Mapping and Sequencing the Human Genome

Mapping and Sequencing the Human Genome
  • Author : 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 : 01 January 1988
GET THIS BOOKMapping and Sequencing the Human Genome

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