Clinical DNA Variant Interpretation

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