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Genetics and Genomics of Eye Disease: Advancing to Precision Medicine

Editat de Xiaoyi Raymond Gao
en Limba Engleză Paperback – 12 sep 2019
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.


  • 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
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Specificații

ISBN-13: 9780128162224
ISBN-10: 0128162228
Pagini: 383
Dimensiuni: 191 x 235 mm
Editura: ELSEVIER SCIENCE

Public țintă

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

Cuprins

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

Recenzii

"Regardless, the book summarises a significant combination of digital inputs – genomic data, fundus images, optical coherence tomography and others – aimed to synthesize enormous information over the coming decade, likely useful to both clinicians and researchers in the field of ocular medicine." --Euretina Brief
"This book is highly specialized and, by nature, it will be difficult to compare. Clearly there are publications in the literature that deal with photographic documentation of genetic eye disorders. This is not an atlas; it is a concise review of knowledge. Great work and congratulations to the contributors and Dr. Gao." --Doody