July 2019
Volume 60, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2019
Big Data -Omics: Approaches for Genetics and Biological Research
Author Affiliations & Notes
  • Christopher J Hammond
    Ophthalmology, King's College London, London, ENGLAND, United Kingdom
  • Footnotes
    Commercial Relationships   Christopher Hammond, None
  • Footnotes
    Support  Wellcome Trust, TFC Frost Charitable Foundation, Fight for Sight UK
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 15. doi:
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      Christopher J Hammond; Big Data -Omics: Approaches for Genetics and Biological Research. Invest. Ophthalmol. Vis. Sci. 2019;60(9):15.

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      © ARVO (1962-2015); The Authors (2016-present)

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Presentation Description : Modern technology has enabled huge datasets to be created for hypothesis-free research, including genome-wide association studies, next-generation sequencing, metabolomics, epigenetics and metagenomics (microbiome). Coupled with regional and national biobanks, such as the UK Biobank cohort, these -Omics studies allow powerful research into complex, age-related diseases. However, there are challenges in analysis of these datasets, which include the amount of storage space and computer processing needed, and the difficulties of multiple testing to determine truly significant results for rare genetic variants. Machine learning and other methods are now being applied, and herald a new era of biological discovery of biological mechanisms of disease, the ability to predict risk of disease with the ultimate aim of personalised medicine. This presentation will give examples, from the UK Biobank and TwinsUK cohorts, of the size and scale and complexity of these datasets, and how Big Data can identify new genes and pathways in eye disease.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.


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