Clinical DNA Variant Interpretation

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  • 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 DNA Variant Interpretation

Clinical DNA Variant Interpretation
  • Author : Conxi Lázaro,Jordan Lerner-Ellis,Amanda Spurdle,George P. Patrinos
  • Publisher : Elsevier
  • Release : 15 March 2021
GET THIS BOOK 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

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

Precision Medicine in Practice Molecular Diagnosis Enabling Precision Therapies An Issue of the Clinics in Laboratory Medicine EBook

Precision Medicine in Practice  Molecular Diagnosis Enabling Precision Therapies  An Issue of the Clinics in Laboratory Medicine  EBook
  • Author : Ryan J. Schmidt
  • Publisher : Elsevier Health Sciences
  • Release : 21 June 2020
GET THIS BOOK Precision Medicine in Practice Molecular Diagnosis Enabling Precision Therapies An Issue of the Clinics in Laboratory Medicine EBook

This issue of Clinics in Laboratory Medicine will cover Precision Medicine in Practice: Molecular Diagnosis Enabling Precision Therapies. Curated by Dr. Ryan J. Schmidt, this issue is one of four selected each year by the series Consulting Editor, Milenko Tanasijevic. The volume will include articles on: Features of a Comprehensive Precision Medicine Program for Constitutional Genetic Disorders, Establishing a Precision Medicine Center of Excellence for Rare Disease, High-throughput DNA Sequencing for Rare Disease Diagnosis, Enhancing Diagnosis through RNA Sequencing, Interpretation

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

Bioinformatics Tools for Detection and Clinical Interpretation of Genomic Variations

Bioinformatics Tools for Detection and Clinical Interpretation of Genomic Variations
  • Author : Ali Samadikuchaksaraei,Morteza Seifi
  • Publisher : BoD – Books on Demand
  • Release : 04 September 2019
GET THIS BOOK Bioinformatics Tools for Detection and Clinical Interpretation of Genomic Variations

Genomic variations and phenotypic diversity are closely linked and form the underlying mechanism for development of many human diseases. This book addresses the methods of detection, analysis, and interpretation of genomic variations in clinically relevant scenarios. If your research or clinical practice involves handling of genomic sequencing data, this book is for you. Topics covered include: methods for identifying genetic diversity, the workflow for analyzing whole exome and whole genome sequencing data, local ancestry deconvolution models, the value of molecular

Molecular Pathology in Clinical Practice

Molecular Pathology in Clinical Practice
  • Author : Debra G.B. Leonard
  • Publisher : Springer
  • Release : 02 February 2016
GET THIS BOOK Molecular Pathology in Clinical Practice

This authoritative textbook offers in-depth coverage of all aspects of molecular pathology practice and embodies the current standard in molecular testing. Since the successful first edition, new sections have been added on pharmacogenetics and genomics, while other sections have been revised and updated to reflect the rapid advances in the field. The result is a superb reference that encompasses molecular biology basics, genetics, inherited cancers, solid tumors, neoplastic hematopathology, infectious diseases, identity testing, HLA typing, laboratory management, genomics and proteomics.

Exploring Personal Genomics

Exploring Personal Genomics
  • Author : Joel T. Dudley,Konrad J. Karczewski
  • Publisher : OUP Oxford
  • Release : 03 January 2013
GET THIS BOOK Exploring Personal Genomics

Rapid advances in high-throughput genome sequencing technologies foreshadow a near-future in which millions of individuals will gain affordable access to their complete genome sequence. This promises to offer unprecedented insights into the fundamental biological nature of ourselves and our species: where we came from, how we begin our lives, how we develop and grow, how we interact with our environment, how we get sick, how we get well, and how we age. Personal genomics is an essential component of the

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
  • Publisher : Academic Press
  • Release : 15 November 2021
GET THIS BOOK Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics

For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world's most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling,

Clinical Hematology

Clinical Hematology
  • Author : E. Anne Stiene-Martin,Cheryl A. Lotspeich-Steininger,John A. Koepke
  • Publisher : Lippincott Williams & Wilkins
  • Release : 16 June 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.

Current Challenges in Cardiovascular Molecular Diagnostics

Current Challenges in Cardiovascular Molecular Diagnostics
  • Author : Matteo Vatta,Valeria Novelli,Luisa Mestroni,Jeffrey A. Towbin,Carlo Napolitano,Guia Guffanti
  • Publisher : Frontiers Media SA
  • Release : 12 September 2017
GET THIS BOOK Current Challenges in Cardiovascular Molecular Diagnostics

The field of cardiovascular genetics has tremendously benefited from the recent application of massive parallel sequencing technology also referred to as next generation sequencing (NGS). However, along with the discovery of additional genes associated with human cardiac diseases, the analysis of large dataset of genetic information uncovered a much more complex and variegated landscape, which often departs from the comfort zone of the monogenic Mendelian diseases image that clinical molecular geneticists have been well acquainted with for many decades. It

Implementation of a Novel Analytical Framework for Large scale Genetic Data

Implementation of a Novel Analytical Framework for Large scale Genetic Data
  • Author : Sílvia Bonàs Guarch
  • Publisher : Unknown
  • Release : 16 June 2021
GET THIS BOOK Implementation of a Novel Analytical Framework for Large scale Genetic Data

The major landmark in modern genomic and biological research has been the first survey of the entire human genome. On June 2000 the staging of Bill Clinton along with Craig Venter and Francis Collins extolled how genome science would impact our lives by revolutionizing diagnosis, prevention and treatment for a vast number of human diseases (Collins 2010). Since that, we underwent a breathtaking progress in genome science with the unique conjunction of the development of new technologies such as Next Generation Sequencing (

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
  • Publisher : McGraw Hill Professional
  • Release : 05 January 2017
GET THIS BOOK Precision Medicine A Guide to Genomics in Clinical Practice

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