Clinical DNA Variant Interpretation: Theory and Practice

ISBN-13: 9780128205198 / Angielski / Miękka / 2021

Conxi Lázaro; Jordan Lerner-Ellis; Amanda Spurdle

Spis treści

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