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

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Yes, you can access Clinical DNA Variant Interpretation by Conxi Lázaro,Jordan Lerner-Ellis,Amanda Spurdle, George P. Patrinos in PDF and/or ePUB format, as well as other popular books in Medicine & Genetics in Medicine. We have over one million books available in our catalogue for you to explore.

Information

Publisher

Academic Press

Year

2021

ISBN

9780128205204

Topic

Medicine

Subtopic

Genetics in Medicine

Cover image
Title page
Table of Contents
Copyright
Dedication
Contributors
Foreword: the challenge of variant interpretation
About the editors
Chapter 1. Introduction: the challenge of genomic DNA interpretation
Section I. Theoretical chapters
Section II. Practical chapters
Index