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Full Description
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.
Contents
Section I Introduction to gene mapping
1. Timeline of key discoveries in eye genetics
2. Segregation, Linkage, GWAS, and sequencing
Section II Mendelian Disorders and high penetrant mutations
3. Inherited retinal degenerations
4. Early-onset glaucoma
5. Strabismus
Section III Complex disorders and low effect-size risk factors
6. Age-related macular degeneration
7. Adult-onset glaucoma
8. Diabetic retinopathy
9. Kerotoconus
Section IV Genomics in the eye
10. Whole-exome sequencing and whole-genome sequencing
11. RNA-Seq and transcriptome analysis
12. Epigenetics and miRNA regulation
Section V Genetic testing and genetic risk prediction
13. Genetic testing of various eye disorders
14. Genetic risk scores and complex eye disorders
Section VI Gene-based therapy
15. Leber congenital amaurosis
16. CRISPR/CAS9 technology
Section VII Big data and precision medicine
17. Machine learning and artificial intelligence
18. Vision research in multi-ethnic populations
19. Bringing research into the clinic and application to precision medicine
