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
Sprache
Verlagsort
Verlagsgruppe
Elsevier Science & Techn.
Illustrationen
Approx. 180 illustrations (50 in full color)
Dateigröße
ISBN-13
978-0-12-820520-4 (9780128205204)
Schweitzer Klassifikation
1. Introduction: The challenge of genomic DNA interpretation
Section I. Theoretical Chapters2. General considerations: Terminology and standards3. International consensus guidelines for constitutional sequence variant interpretation4. Quantitative modelling: Multifactorial integration of data 5. Clinical and genetic evidence and population evidence6. The computational approach to variant interpretation: principles, results, and applicability7. Functional evidence (I) transcripts and RNA splicing outline8. Functional evidence (II) protein and enzyme function 9. Somatic data usage for classification of germline variants 10. Pharmacogenomics and personalized medicine11. Data sharing and gene variant databases12. Approaches to the comprehensive interpretation of genome-scale sequencing13. Phenotype evaluation and clinical context: Application of case-level data in genomic variant interpretation
Section II. Practical Chapters14. Inherited cardiomyopathies15. Phenylketonuria16. Hearing loss17. Familial hypercholesterolemia18. Classification of genetic variants in hereditary cancer genes19. RASopathies 20. Summary and conclusions
