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 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

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 : 02 November 2021
GET THIS BOOK Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies in this growing field. The book is ideal for medical students, residents, physicians and researchers involved in the care of patients with genetic conditions. This comprehensive, yet practical resource emphasizes theory and research fundamentals related to applications

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 : Elsevier
  • Release : 29 November 2021
GET THIS BOOK Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies in this growing field. The book is ideal for medical students, residents, physicians and researchers involved in the care of patients with genetic conditions. This comprehensive, yet practical resource emphasizes theory and research fundamentals related to applications of

Advances in Molecular Pathology E Book 2021

Advances in Molecular Pathology  E Book 2021
  • Author : Gregory J. Tsongalis
  • Publisher : Elsevier Health Sciences
  • Release : 13 October 2021
GET THIS BOOK Advances in Molecular Pathology E Book 2021

Advances in Molecular Pathology is an annual review publication that covers the current practices and latest developments in the field of Molecular Pathology. Each issue is divided into sections for comprehensive coverage of all subspecialty areas within molecular pathology, including, Genetics, Hematopathology, Infectious Disease, Pharmacogenomics, Informatics, Solid Tumors, and special topics on COVID-19. The Editor-in-Chief of the publication is Dr. Gregory Tsongalis, a leading expert in the field. Topics covered this year include but are not limited to: Phenotype Association

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

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

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

Managing Health in the Genomic Era

Managing Health in the Genomic Era
  • Author : Vincent Henrich,Lori A. Orlando,Brian H. Shirts
  • Publisher : Academic Press
  • Release : 27 June 2020
GET THIS BOOK Managing Health in the Genomic Era

In Managing Health in the Genomic Era: A Guide to Family Health History and Disease Risk, Drs. Vincent C. Henrich, Lori A. Orlando, and Brian H. Shirts discuss the practical considerations surrounding the use of genomic and genetic tests to manage patient health, to provide adult disease risk assessment, to improve diagnosis, and to support effective interventions and treatment. In 10 chapters, evidence-based information and case studies are described and examine the central place of family health history (FHH) in genomic

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 BOOK Clinical 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,

Variant Haemoglobins

Variant Haemoglobins
  • Author : Barbara J. Bain,Barbara Wild,Adrian Stephens,Lorraine Phelan
  • Publisher : John Wiley & Sons
  • Release : 28 June 2011
GET THIS BOOK Variant Haemoglobins

Variant Haemoglobins – A Guide to Identification is based on the premise that any single diagnostic technique offers only a very provisional identification of a variant haemoglobin. In routine diagnostic practice two techniques are needed as a minimum, with the results being interpreted in the light of the clinical details, blood count, blood film and ethnic origin. This book covers 150 normal and variant haemoglobins that have been studied and carefully documented. Variant Haemoglobins has four introductory chapters followed by an invaluable

DNA Sequencing

DNA Sequencing
  • Author : Feng Zeng
  • Publisher : Springer
  • Release : 09 September 2017
GET THIS BOOK DNA Sequencing

This thesis addresses practical data quality and variant detection issues regarding research on next-generation DNA sequencing. It develops for the first time a hidden Markov model (HMM) to describe the error pattern and data generation of next-generation DNA sequencers. Further, it proposes using a haplotype-based method, which employs the HMM and re-alignment to suppress the interference of sequencing errors and incorrect alignments, in order to improve the detection accuracy of SNPs and InDels. Lastly, the thesis sheds new light on

Benign and Pathological Chromosomal Imbalances

Benign and Pathological Chromosomal Imbalances
  • Author : Thomas Liehr
  • Publisher : Academic Press
  • Release : 31 August 2013
GET THIS BOOK Benign and Pathological Chromosomal Imbalances

Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. As technology-driven approaches like FISH and aCGH have yet to achieve the promise of

Intelligent Information Systems

Intelligent Information Systems
  • Author : Selmin Nurcan,Axel Korthaus
  • Publisher : Springer Nature
  • Release : 14 June 2021
GET THIS BOOK Intelligent Information Systems

This book constitutes the thoroughly refereed proceedings of the CAiSE Forum 2021 which was held as part of the 33rd International Conference on Advanced Information Systems Engineering, CAiSE 2021, in June 2021. The conference was held virtually due to the COVID-19 pandemic. The CAiSE Forum is a place within the CAiSE conference for presenting and discussing new ideas and tools related to information systems engineering. Intended to serve as an interactive platform, the Forum aims at the presentation of emerging new topics and

Hereditary Colorectal Cancer

Hereditary Colorectal Cancer
  • Author : Laura Valle,Stephen B. Gruber,Gabriel Capellá
  • Publisher : Springer
  • Release : 04 May 2018
GET THIS BOOK Hereditary Colorectal Cancer

This book provides information on a wide variety of issues ranging from genetics to clinical description of the syndromes, genetic testing and counseling, and clinical management including surveillance, surgical and prophylactic interventions, and chemoprevention. Moreover, current hot issues, such as the identification of novel causal genes and the challenges we face, and the relevance of cancer risk modifiers, both genetic and environmental, are also discussed. This reference book is great for geneticists, oncologists, genetic counselors, researchers, clinicians, surgeons and nurses