Genetics and Genomics of Eye Disease: Advancing to Precision Medicine thoroughly examines the latest genomics methods for studying eye disease, including complex eye disorders associated with multiple genes. GWAS, WES, WGS, RNA-sequencing, and transcriptome analysis as employed in ocular genomics are discussed in-depth, as are genomics findings tied to early-onset glaucoma, strabismus, age-related macular degeneration, adult-onset glaucoma, diabetic retinopathy, keratoconus, and leber congenital amaurosis, among other diseases. Research and clinical specialists offer guidance on conducting preventative screenings and counseling patients, as well as the promise of machine learning, computational statistics and artificial intelligence in advancing ocular genomics research.
1. Part I: Introduction to gene mapping - p. xvii 2. Chapter 1: Timeline of key discoveries in ophthalmic genetics - p. xvii 3. Chapter 2: Segregation, linkage, GWAS, and sequencing - p. 6 4. Part II: Genomics in the eye - p. 23 5. Chapter 3: Whole-exome sequencing and whole-genome sequencing - p. 23 6. Chapter 4: RNA sequencing and transcriptome analysis - p. 39 7. Chapter 5: Noncoding genome in eye disease - p. 53 8. Part III: Mendelian disorders and high penetrant mutations - p. 68 9. Chapter 6: Genetic architecture of inherited retinal disease - p. 68 10. Chapter 7: Early-onset glaucoma - p. 92 11. Chapter 8: Bardet-Biedl syndrome - p. 116 12. Chapter 9: Hereditary predisposition to uveal melanoma - p. 136 13. Part IV: Complex disorders and low effect-size risk factors - p. 151 14. Chapter 10: Age-related macular degeneration - p. 151 15. Chapter 11: Genetics of primary open-angle glaucoma - p. 180 16. Chapter 12: Genetics of diabetic retinopathy - p. 201 17. Chapter 13: Genetics of keratoconus - p. 218 18. Part V: Genetic testing and genetic risk prediction - p. 235 19. Chapter 14: Genetic testing of various eye disorders - p. 235 20. Chapter 15: Genetic risk scores in complex eye disorders - p. 258 21. Part VI: Gene-based therapy - p. 275 22. Chapter 16: Gene therapy for inherited retinal diseases - p. 275 23. Chapter 17: Gene therapy in animal models - p. 295 24. Part VII: Big data and precision medicine - p. 311 25. Chapter 18: Pleiotropy in eye disease and related traits - p. 311 26. Chapter 19: Advancing to precision medicine through big data and artificial intelligence - p. 336 27. Index - p. 351
Genetics and Genomics of Eye Disease: Advancing to Precision Medicine thoroughly examines the latest genomics methods for studying eye disease, including complex eye disorders associated with multiple genes. GWAS, WES, WGS, RNA-sequencing, and transcriptome analysis as employed in ocular genomics are discussed in-depth, as are genomics findings tied to early-onset glaucoma, strabismus, age-related macular degeneration, adult-onset glaucoma, diabetic retinopathy, keratoconus, and leber congenital amaurosis, among other diseases. Research and clinical specialists offer guidance on conducting preventative screenings and counseling patients, as well as the promise of machine learning, computational statistics and artificial intelligence in advancing ocular genomics research.
1. Part I: Introduction to gene mapping - p. xvii 2. Chapter 1: Timeline of key discoveries in ophthalmic genetics - p. xvii 3. Chapter 2: Segregation, linkage, GWAS, and sequencing - p. 6 4. Part II: Genomics in the eye - p. 23 5. Chapter 3: Whole-exome sequencing and whole-genome sequencing - p. 23 6. Chapter 4: RNA sequencing and transcriptome analysis - p. 39 7. Chapter 5: Noncoding genome in eye disease - p. 53 8. Part III: Mendelian disorders and high penetrant mutations - p. 68 9. Chapter 6: Genetic architecture of inherited retinal disease - p. 68 10. Chapter 7: Early-onset glaucoma - p. 92 11. Chapter 8: Bardet-Biedl syndrome - p. 116 12. Chapter 9: Hereditary predisposition to uveal melanoma - p. 136 13. Part IV: Complex disorders and low effect-size risk factors - p. 151 14. Chapter 10: Age-related macular degeneration - p. 151 15. Chapter 11: Genetics of primary open-angle glaucoma - p. 180 16. Chapter 12: Genetics of diabetic retinopathy - p. 201 17. Chapter 13: Genetics of keratoconus - p. 218 18. Part V: Genetic testing and genetic risk prediction - p. 235 19. Chapter 14: Genetic testing of various eye disorders - p. 235 20. Chapter 15: Genetic risk scores in complex eye disorders - p. 258 21. Part VI: Gene-based therapy - p. 275 22. Chapter 16: Gene therapy for inherited retinal diseases - p. 275 23. Chapter 17: Gene therapy in animal models - p. 295 24. Part VII: Big data and precision medicine - p. 311 25. Chapter 18: Pleiotropy in eye disease and related traits - p. 311 26. Chapter 19: Advancing to precision medicine through big data and artificial intelligence - p. 336 27. Index - p. 351
