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Deborah A Nickerson; General Introduction to Genomic Technologies with Human Disease Examples. Invest. Ophthalmol. Vis. Sci. 201657(12):.
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© ARVO (1962-2015); The Authors (2016-present)
Presentation Description :
The successful application of massively parallel sequencing is rapidly changing our ability to uncover the genetic basis of human disease particularly for Mendelian conditions. It is providing new insights into human biology and development at an unprecedented pace. Although many genetic strategies have been tried, some have been more successful. Examples of each for both rare and common diseases/traits will be highlighted. At all levels, data and sample sharing is proving essential and can greatly propel gene discovery. New ways to share data are developing and are already influencing the discovery process. Technological innovation continues to be needed, but the rapidly growing catalog of phenotypes and causative variants for many human conditions is substantially impacting the rates of molecular diagnosis and advancing the development of new therapeutics.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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