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. Author manuscript; available in PMC: 2017 Feb 4.
Published in final edited form as: Nature. 2016 Aug 4;536(7614):41–47. doi: 10.1038/nature18642

Figure 3. Empirical T2D association results compared to results under different simulated disease models.

Figure 3

Observed number of rare and low-frequency (MAF<5%) genetic association signals for T2D detected genome-wide after imputation compared to the numbers seen under three simulated disease models for T2D which were plausible given results (T2D recurrence risks, GWAS, linkage) prior to large-scale sequencing. Simulated models were defined by two parameters: disease target size T and degree of coupling τ between the causal effects of variants and the selective pressure against them40. Simulated data were generated to match GoT2D imputation quality as a function of MAF (Methods).