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.

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Cover
Front Matter
Table of Contents
Copyright
Dedication
Contributors
Foreword: the challenge of variant interpretation
About the editors
List of Illustrations
List of Tables
Chapter 1 : Introduction: the challenge of genomic DNA interpretation
Chapter 2 : General considerations: terminology and standards
Chapter 3 : International consensus guidelines for constitutional sequence variant interpretation
Chapter 4 : Quantitative modeling: multifactorial integration of data
Chapter 5 : Clinical and genetic evidence and population evidence
Chapter 6 : The computational approach to variant interpretation: principles, results, and applicability
Chapter 7 : Functional evidence (I) transcripts and RNA-splicing outline
Chapter 8 : Functional evidence (II) protein and enzyme function
Chapter 9 : Somatic data usage for classification of germ line variants
Chapter 10 : Pharmacogenetics and personalized medicine
Chapter 11 : Data sharing and gene variant databases
Chapter 12 : Approaches to the comprehensive interpretation of genome-scale sequencing
Chapter 13 : Phenotype evaluation and clinical context: application of case-level data in genomic variant interpretation
Chapter 14 : Inherited cardiomyopathies
Chapter 15 : Phenylketonuria
Chapter 16 : Hearing loss
Chapter 17 : Familial hypercholesterolemia
Chapter 18 : Classification of genetic variants in hereditary cancer genes
Chapter 19 : RASopathies
Chapter 20 : Summary and conclusions
Index
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About this book

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Table of contents