Genome-wide association study success in ophthalmology

DA Mackey, AW Hewitt - Current opinion in ophthalmology, 2014 - journals.lww.com
Current opinion in ophthalmology, 2014journals.lww.com
Our understanding of the genetic architecture of common eye diseases, such as myopia,
age-related macular degeneration and glaucoma, is rapidly expanding. With reducing costs
of next-generation sequencing, we expect a transition to large-scale interrogation at the
whole exome and genome level, which will enable the identification of rare variants which
confer a level of sensitivity and specificity to predict risk that will allow us to further
understand, predict and intervene in genetic-based eye diseases.
Summary
Our understanding of the genetic architecture of common eye diseases, such as myopia, age-related macular degeneration and glaucoma, is rapidly expanding. With reducing costs of next-generation sequencing, we expect a transition to large-scale interrogation at the whole exome and genome level, which will enable the identification of rare variants which confer a level of sensitivity and specificity to predict risk that will allow us to further understand, predict and intervene in genetic-based eye diseases.
Lippincott Williams & Wilkins
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