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. Author manuscript; available in PMC: 2015 Dec 29.
Published in final edited form as: Science. 2015 Sep 24;349(6255):1489–1494. doi: 10.1126/science.aaa8954

Fig. 4. Refining diagnoses based on genetic susceptibility.

Fig. 4

Clinical disorders (abbreviations are as in Fig. 1) and their overlap, represented by the big circles. The smaller dots within each circle represent contributing genetic or environmental risk factors. Once genetic risk is defined in population studies, it can be used to define factors underlying disease risk in individuals, identifying distinct (or overlapping) entities, two of which are represented by the elongated ovals at the bottom, grounded in causal mechanistic understanding. These subtypes should more clearly inform prognosis and treatment than do current categorical disease entities. The sizes of the dots within the circles represent the relative effect sizes of variants.