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 pages 436. We cannot guarantee that Clinical DNA Variant Interpretation book is available in the library, click Get Book button to download or read online books. Join over 650.000 happy Readers and READ as many books as you like.

Clinical DNA Variant Interpretation
Author :
Publisher : Academic Press
Release Date :
ISBN : 9780128205204
Pages : 436 pages
Rating : /5 ( users)
GET BOOK!

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: 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,

GET 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

GET 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

GET BOOK!
Clinical 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

GET BOOK!
Clinical Genome Sequencing

Clinical Genome Sequencing: Psychological Aspects thoroughly details key psychological factors to consider while implementing genome sequencing in clinical practice, taking into account the subtleties of genetic risk assessment, patient consent and best practices for sharing genomic findings. Chapter contributions from leading international researchers and practitioners cover topics ranging from the

GET BOOK!
Molecular 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

GET 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

GET BOOK!
Next 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)

GET BOOK!
Nonsense 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

GET BOOK!
An Evidence Framework for Genetic Testing

Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the

GET BOOK!
Polymerase Chain Reaction for Biomedical Applications

Do you want to know the details that should be taken into consideration in order to have accurate conventional and real-time PCR results? If so, this book is for you. Polymerase Chain Reaction for Biomedical Applications is a collection of chapters for both novice and experienced scientists and technologists aiming

GET BOOK!
Medical 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

GET BOOK!
Fundamentals of Genomics

The study of the genomes and complete human cell DNA sets is known as genomics. As a part of molecular biology, genomics includes analysis and sequencing of genomes. The different phenomena studied under this field are epistasis, pleiotropy, heterosis, etc. The various areas where genomics is applied are conservation genomics,

GET BOOK!
Understanding 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

GET BOOK!
Artificial Intelligence in Medicine

This book constitutes the refereed proceedings of the 17th Conference on Artificial Intelligence in Medicine, AIME 2019, held in Poznan, Poland, in June 2019. The 22 revised full and 31 short papers presented were carefully reviewed and selected from 134 submissions. The papers are organized in the following topical sections: deep learning; simulation; knowledge representation;

GET BOOK!