Description
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
Table of Contents
1. Introduction: The challenge of genomic DNA interpretation
Section I. Theoretical Chapters 2. General considerations: Terminology and standards 3. International consensus guidelines for constitutional sequence variant interpretation 4. Quantitative modelling: Multifactorial integration of data 5. Clinical and genetic evidence and population evidence 6. The computational approach to variant interpretation: principles, results, and applicability 7. Functional evidence (I) transcripts and RNA splicing outline 8. Functional evidence (II) protein and enzyme function 9. Somatic data usage for classification of germline variants 10. Pharmacogenomics and personalized medicine 11. Data sharing and gene variant databases 12. Approaches to the comprehensive interpretation of genome-scale sequencing 13. Phenotype evaluation and clinical context: Application of case-level data in genomic variant interpretation
Section II. Practical Chapters 14. Inherited cardiomyopathies 15. Phenylketonuria 16. Hearing loss 17. Familial hypercholesterolemia 18. Classification of genetic variants in hereditary cancer genes 19. RASopathies 20. Summary and conclusions
