The past decade has seen enormous success of wide-scale genetic studies in identifying genetic variants that modify individuals’ predisposition to common diseases. However, the interpretation and functional understanding of these variants lag far behind. In this Perspective, we discuss opportunities for using large-scale cohort studies to investigate the downstream molecular effects of SNPs at different ‘omics’ data levels. We point to the pivotal role of population cohorts in establishing causality and advancing drug discovery. In particular, we focus on the breadth-versus-depth concepts of population studies, on data harmonization, and on the challenges, ethical aspects and future perspectives of cohort studies.
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C.W. is funded by a European Research Council (ERC) advanced grant (FP/2007-2013/ERC grant 2012-322698), a Netherlands Organization for Scientific Research (NWO) Spinoza prize (NWO SPI 92-266), the NWO Gravitation Netherlands Organ-on-Chip Initiative (024.003.001), the Stiftelsen Kristian Gerhard Jebsen foundation (Norway) and the RuG investment agenda grant Personalized Health. A.Z. is supported by a Rosalind Franklin Fellowship (University of Groningen), an ERC starting grant (715772) and an NWO VIDI grant (2016-178.056), and is also funded by CardioVasculair Onderzoek Nederland (CVON 2012-03). We thank K. Mc Intyre and J. Senior for editorial assistance, and J. Fu for help with graphics for Fig. 1.
The authors declare no competing interests.
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Wijmenga, C., Zhernakova, A. The importance of cohort studies in the post-GWAS era. Nat Genet 50, 322–328 (2018). https://doi.org/10.1038/s41588-018-0066-3
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