May 11, 2021

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 : 2021-02-27
Category : Medical
Total pages :436
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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

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

Mitochondrial Disease Genes Compendium

Mitochondrial Disease Genes Compendium
Author : Marni J. Falk
Publisher : Academic Press
Release Date : 2020-05
Category : Science
Total pages :424
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The field of Mitochondrial Medicine has been dominated by symptom constellation-based diagnostic categorization since the first clinical syndrome was described three decades ago. Now, as rapidly expanding knowledge has revealed that mitochondrial diseases may result from several hundred distinct gene disorders with extensive clinical and mutation heterogeneity, the most useful guide for clinical care and research embraces a gene-centric approach to each individual's disorder. Together with international colleagues, Dr. Marni Falk has developed the Mitochondrial Disease Sequence Data Resource (MSeqDR), an online, community curated, centralized data resource of mitochondrial disease data from a genomic perspective. MSeqDR provides tens of thousands of users with interactive access to mitochondrial disease feature descriptions in a defined human phenotype ontology, mitochondrial proteome-based gene and variant curation, and a suite of easily accessible tools to facilitate analysis of complex genomic datasets in nuclear and mitochondrial genomes as well as accurate interpretation of mitochondrial disease genes, variants, and diseases. Here, in the Mitochondrial Disease Genes Compendium, Dr. Marni Falk and a team of international experts have built off their work on MSeqDR to provide an all-in-one, readily accessible, and easy-to-use at point of care reference on mitochondrial disease from a gene-based perspective. In this book, clinicians and researchers will find a complete overview of mitochondrial disease genes relevant across all specialties, cataloging and building context around clinical features and the genetic basis of each condition. Within, each "gene page" offers an in-depth, referenced view of the relevant clinical disease spectrum, including gene and protein descriptions, year discovered, inheritance pattern(s), age ranges affected, major clinical features and severity range, clinical pearls, known therapies, available support groups, animal models, and gene-specific basic, translational, or clinical research activities now underway. Links provided on each gene page direct readers to MSeqDR for new findings, up-to-date genomic variant data, and user friendly informatics tools accessible to general clinicians and sophisticated geneticists or bioinformaticians alike, ensuring access to updated information on each condition. Covering 256 mitochondrial disease genes that have been expert-curated to assure they cause human diseases and have known mitochondrial localization or impact mitochondrial function, the Mitochondrial Disease Genes Compendium is directed at clinicians and researchers, facilitating bedside access to high-level, curated knowledge on mitochondrial disease genetics that rapidly enables patient diagnosis, counseling, management, treatment, and research.

Annals of Clinical Biochemistry

Annals of Clinical Biochemistry
Author : Anonim
Publisher : Unknown
Release Date : 2003
Category : Biochemistry
Total pages :129
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Ferri's Clinical Advisor

Ferri's Clinical Advisor
Author : Fred F. Ferri
Publisher : Mosby Incorporated
Release Date : 2005
Category : Medical
Total pages :1380
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Busy physicians are provided with a fast, efficient way to identify important clinical information about the most commonly encountered medical disorders. It is divided into five distinct sections dealing with more than 1000 topics, and is filled with illustrations, tables and boxes highlighting important considerations.

The Encyclopedia of Mass Spectrometry

The Encyclopedia of Mass Spectrometry
Author : Michael L. Gross,Richard M. Caprioli
Publisher : Unknown
Release Date : 2003
Category : Mass spectrometry
Total pages :580
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Clinical Hematology

Clinical Hematology
Author : E. Anne Stiene-Martin,Cheryl A. Lotspeich-Steininger,John A. Koepke
Publisher : Lippincott Williams & Wilkins
Release Date : 1998
Category : Medical
Total pages :817
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This second edition provides comprehensive coverage of all areas of clinical haematology, including: bone marrow evaluation; blood cellcytochemistry; body fluid evaluation; haematologic instrumentation; and quality control and quality assurance for haematology and haemostasis laboratories.

Clinical Virology Manual

Clinical Virology Manual
Author : Steven Specter,Richard L. Hodinka,Stephen A. Young
Publisher : Amer Society for Microbiology
Release Date : 2000
Category : Medical
Total pages :623
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This comprehensive manual serves as a source of basic and clinical information for the physician regarding viruses and viral diseases and as a reference source for laboratorians to aid in the diagnosis of virus infection by providing detailed information on individual techniques. Section one of the manual describes laboratory procedures to detect viruses, including quality control in the laboratory and specimen handling. Individual chapters provide information or a detailed protocol on how to set up and test samples for viral diagnosis. The second section focuses on the viral agents and the third is a reference of the various federal, state, and local laboratories that diagnose virus infections.

Clinical Flow Cytometry

Clinical Flow Cytometry
Author : Kenneth D. Bauer,Ricardo E. Duque,T. Vincent Shankey
Publisher : Unknown
Release Date : 1993
Category : Medical
Total pages :635
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Aimed at pathologists, oncologists, haematologists and laboratory medicine specialists, this book on flow cytometry addresses such topics as fundamental principles, basic techniques and clinical applications, with an emphasis on its relation to the biology of human cancers and other diseases. Chapters on the clinical application of flow cytometry include its use in diagnosing lymphomas and a wide variety of other cancers. Each organ-system chapter is followed by a clinical commentary that provides additional perspectives on the diagnosis utility of this technology.

Exome Sequence Analysis and Interpretation

Exome Sequence Analysis and Interpretation
Author : Vinod Scaria,Sridhar Sivasubbu
Publisher : Research in Genomics
Release Date : 2015-02-11
Category : Computers
Total pages :124
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A concise handbook on exome sequencing for clinicians and clinical geneticists.

Cancer Research

Cancer Research
Author : Anonim
Publisher : Unknown
Release Date : 2008-05
Category : Cancer
Total pages :129
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Encyclopedia of Analytical Science

Encyclopedia of Analytical Science
Author : Anonim
Publisher : Unknown
Release Date : 1995
Category : Chemistry, Analytic
Total pages :6059
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Emerging Technologies in Transfusion Medicine

Emerging Technologies in Transfusion Medicine
Author : Walter Dzik
Publisher : American Association of Blood Banks Press
Release Date : 2003
Category : Blood
Total pages :384
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Transfusion medicine is rapidly changing from what was a relatively narrowly focused field with a limited diagnostic and therapeutic scope to one that embraces fundamental elements of immunology, stem cell biology, the inflammatory response and hemostatis. This shift in focus is in response to the accelerated pace of advances in biomedical research. No longer constrained to diagnoses based on blood group serology or to therapies based on a limited number of blood components and derivatives, transfusion medicine is redefining itself through the clinical application of modern biotechniques. In Emerging Technologies in Transfusion Medicine examples of the emerging technologies that are transforming both diagnostic and therapeutic aspects of the field are highlighted, offering a deeper understanding and an informed evaluation necessary for their application.

Principles and Practice of Clinical Virology

Principles and Practice of Clinical Virology
Author : Arie J. Zuckerman,Jangu E. Banatvala,John R. Pattison
Publisher : Wiley-Interscience
Release Date : 2000
Category : Medical
Total pages :776
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Virology is that branch of microbiology concerned with viruses and diseases. These groups of minute infectious agents are, with certain exceptions (e.g., poxviruses) lack an independent metabolism and replicate only within living host cells. Like living organisms, they reproduce with genetic continuity and also mutate. Normally classified into three subgroups on the basis of host specificity (bacterial viruses, animal viruses, and plant viruses), they are also classified by origin, mode of transmission, symptoms produced, and where first located.

The Nation's Health

The Nation's Health
Author : Philip Randolph Lee,Carroll L. Estes,Liz Close
Publisher : Jones & Bartlett Publishers
Release Date : 1997
Category : Health care reform
Total pages :427
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