
Genetics and Genomics of Eye Disease
Advancing to Precision Medicine
Description
Key Features
- Offers thorough guidance on conducting genetic and genomic studies of eye disease
- Examines the genetic basis of a wide range of complex eye diseases and single-gene and Mendelian disorders
- Discusses the application of genetic testing and genetic risk prediction in eye disease diagnosis and patient counseling
Readership
Pediatric and adult ophthalmologists; human geneticists; basic and translational human genomics researchers; life science researchers, biochemists, and molecular biologists; genetic counselors; ophthalmology residents and trainees; medical geneticists; research students in ophthalmology, human genetics, and precision medicine; medical students
Table of Contents
Section I Introduction to gene mapping
1. Timeline of key discoveries in eye genetics
2. Segregation, Linkage, GWAS, and sequencingSection II Mendelian Disorders and high penetrant mutations
3. Inherited retinal degenerations
4. Early-onset glaucoma
5. StrabismusSection III Complex disorders and low effect-size risk factors
6. Age-related macular degeneration
7. Adult-onset glaucoma
8. Diabetic retinopathy
9. KerotoconusSection IV Genomics in the eye
10. Whole-exome sequencing and whole-genome sequencing
11. RNA-Seq and transcriptome analysis
12. Epigenetics and miRNA regulationSection V Genetic testing and genetic risk prediction
13. Genetic testing of various eye disorders
14. Genetic risk scores and complex eye disordersSection VI Gene-based therapy
15. Leber congenital amaurosis
16. CRISPR/CAS9 technologySection 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
Product details
- No. of pages: 383
- Language: English
- Copyright: © Academic Press 2019
- Published: September 12, 2019
- Imprint: Academic Press
- Paperback ISBN: 9780128162224
- eBook ISBN: 9780128167274
About the Editor
Xiaoyi Gao
Affiliations and Expertise
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