Genome-wide association studies, Polygenic Risk Scores and Mendelian randomisation: an overview of common genetic epidemiology methods for ophthalmic clinicians

Abstract excerpt

Genetic information will be increasingly integrated into clinical eye care within the current generation of ophthalmologists. For monogenic diseases such as retinoblastoma, genetic studies have been relatively straightforward as these conditions result from pathogenic variants in a single gene resulting in large physiological effects. However, most eye diseases result from the cumulative effects of multiple...

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