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Chunk #57 — Discussion — Conclusions

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Mining the human phenome using allelic scores that index biological intermediates.
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In conclusion, whilst genome-wide association studies have identified thousands of genetic variants underlying complex traits and diseases, a criticism of the approach has been that in many cases, knowledge of the risk variants underlying disease has yet to be translated into interventions or information that directly impacts clinical medicine and public health. Our idea is to use allelic scores that proxy biological intermediates to data mine genome-wide association studies. We would argue that our simple approach is an easy to understand statistical method which has the potential to identify possible causal relationships between these variables and disease outcomes, and through this, translate the findings from genetic research into information that is relevant to public health as in the case of Mendelian Randomization studies [32]. Our results suggest that our approach may even be possible in the case of biological intermediates where confirmed genetic variants are unknown a priori through the application of genome-wide allelic scores. Our method has the potential to revolutionize the way exposure-disease associations are identified in observational epidemiological studies and ensure that the considerable investment in genome-wide association studies over the past decade is maximized in terms of public health impact.