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.
1. Chapter 1 : Introduction: the challenge of genomic DNA interpretation - p. Page xiii 2. Chapter 2 : General considerations: terminology and standards - p. Page 5 3. Chapter 3 : International consensus guidelines for constitutional sequence variant interpretation - p. Page 25 4. Chapter 4 : Quantitative modeling: multifactorial integration of data - p. Page 38 5. Chapter 5 : Clinical and genetic evidence and population evidence - p. Page 55 6. Chapter 6 : The computational approach to variant interpretation: principles, results, and applicability - p. Page 86 7. Chapter 7 : Functional evidence (I) transcripts and RNA-splicing outline - p. Page 113 8. Chapter 8 : Functional evidence (II) protein and enzyme function - p. Page 139 9. Chapter 9 : Somatic data usage for classification of germ line variants - p. Page 160 10. Chapter 10 : Pharmacogenetics and personalized medicine - p. Page 185 11. Chapter 11 : Data sharing and gene variant databases - p. Page 212 12. Chapter 12 : Approaches to the comprehensive interpretation of genome-scale sequencing - p. Page 234 13. Chapter 13 : Phenotype evaluation and clinical context: application of case-level data in genomic variant interpretation - p. Page 247 14. Chapter 14 : Inherited cardiomyopathies - p. Page 270 15. Chapter 15 : Phenylketonuria - p. Page 288 16. Chapter 16 : Hearing loss - p. Page 302 17. Chapter 17 : Familial hypercholesterolemia - p. Page 317 18. Chapter 18 : Classification of genetic variants in hereditary cancer genes - p. Page 343 19. Chapter 19 : RASopathies - p. Page 383 20. Chapter 20 : Summary and conclusions - p. Page 395 21. Index - p. Page 401
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.
1. Chapter 1 : Introduction: the challenge of genomic DNA interpretation - p. Page xiii 2. Chapter 2 : General considerations: terminology and standards - p. Page 5 3. Chapter 3 : International consensus guidelines for constitutional sequence variant interpretation - p. Page 25 4. Chapter 4 : Quantitative modeling: multifactorial integration of data - p. Page 38 5. Chapter 5 : Clinical and genetic evidence and population evidence - p. Page 55 6. Chapter 6 : The computational approach to variant interpretation: principles, results, and applicability - p. Page 86 7. Chapter 7 : Functional evidence (I) transcripts and RNA-splicing outline - p. Page 113 8. Chapter 8 : Functional evidence (II) protein and enzyme function - p. Page 139 9. Chapter 9 : Somatic data usage for classification of germ line variants - p. Page 160 10. Chapter 10 : Pharmacogenetics and personalized medicine - p. Page 185 11. Chapter 11 : Data sharing and gene variant databases - p. Page 212 12. Chapter 12 : Approaches to the comprehensive interpretation of genome-scale sequencing - p. Page 234 13. Chapter 13 : Phenotype evaluation and clinical context: application of case-level data in genomic variant interpretation - p. Page 247 14. Chapter 14 : Inherited cardiomyopathies - p. Page 270 15. Chapter 15 : Phenylketonuria - p. Page 288 16. Chapter 16 : Hearing loss - p. Page 302 17. Chapter 17 : Familial hypercholesterolemia - p. Page 317 18. Chapter 18 : Classification of genetic variants in hereditary cancer genes - p. Page 343 19. Chapter 19 : RASopathies - p. Page 383 20. Chapter 20 : Summary and conclusions - p. Page 395 21. Index - p. Page 401
