Clinical DNA Variant Interpretation

Produk Detail:
  • Author : Conxi Lázaro
  • Publisher : Academic Press
  • Pages : 436 pages
  • ISBN : 0128205202
  • Rating : /5 from reviews
CLICK HERE TO GET THIS BOOK >>>Clinical DNA Variant Interpretation

Download or Read online Clinical DNA Variant Interpretation full in PDF, ePub and kindle. this book written by Conxi Lázaro and published by Academic Press which was released on 27 February 2021 with total page 436 pages. We cannot guarantee that Clinical DNA Variant Interpretation book is available in the library, click Get Book button and read full online book in your kindle, tablet, IPAD, PC or mobile whenever and wherever You Like. 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 DNA Variant Interpretation

Clinical DNA Variant Interpretation
  • Author : Conxi Lázaro,Jordan Lerner-Ellis,Amanda Spurdle
  • Publisher : Academic Press
  • Release : 27 February 2021
GET THIS BOOK Clinical 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 Genomics

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

Mitochondrial Disease Genes Compendium

Mitochondrial Disease Genes Compendium
  • Author : Marni J. Falk
  • Publisher : Academic Press
  • Release : 01 May 2020
GET THIS BOOK Mitochondrial Disease Genes Compendium

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),

Emery s Elements of Medical Genetics E Book

Emery s Elements of Medical Genetics E Book
  • Author : Peter D Turnpenny,Sian Ellard,Ruth Cleaver, Mbchb BSC MRCP
  • Publisher : Elsevier
  • Release : 01 February 2021
GET THIS BOOK Emery s Elements of Medical Genetics E Book

Long recognized as a leading textbook in this fast-moving field, Emery's Elements of Medical Genetics and Genomics offers current, complete information with a strong basis in practical clinical genetics and genomics for medical school and beyond. The 16th Edition of this award-winning text has been thoroughly updated throughout and includes case-based and multiple-choice questions, end-of-chapter summaries, an extensive glossary, and convenient online access, making it an ideal choice for all medical undergraduates as well as postgraduates seeking to improve their

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 : 13 January 2018
GET THIS BOOK Clinical Immunology E Book

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

Advances in Molecular Pathology E Book 2019

Advances in Molecular Pathology  E Book 2019
  • Author : Gregory J. Tsongalis
  • Publisher : Elsevier Health Sciences
  • Release : 06 November 2019
GET THIS BOOK Advances in Molecular Pathology E Book 2019

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.

Ferri s Clinical Advisor

Ferri s Clinical Advisor
  • Author : Fred F. Ferri
  • Publisher : Mosby Incorporated
  • Release : 05 May 2021
GET THIS BOOK Ferri s Clinical Advisor

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.

Clinical Hematology

Clinical Hematology
  • Author : E. Anne Stiene-Martin,Cheryl A. Lotspeich-Steininger,John A. Koepke
  • Publisher : Lippincott Williams & Wilkins
  • Release : 05 May 1998
GET THIS BOOK Clinical Hematology

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 : 05 May 2021
GET THIS BOOK Clinical Virology Manual

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

Clinical Flow Cytometry

Clinical Flow Cytometry
  • Author : Kenneth D. Bauer,Ricardo E. Duque,T. Vincent Shankey
  • Publisher : Unknown
  • Release : 05 May 1993
GET THIS BOOK Clinical Flow Cytometry

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