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Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

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Figure 1: RS scores inversely correlate with DAF of single-nucleotide variants in eight HapMap exomes.
Figure 2: Constraint scores enrich for disease-causing genes.


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G.M.C. is grateful for support from a Merck, Jane Coffin Childs Memorial Fund postdoctoral fellowship. D.L.G. is supported by a Lucille P. Markey Biomedical Research Stanford Graduate Fellowship. S.B.N. is supported by the Agency for Science, Technology and Research, Singapore. This work was also supported by grants from the US National Institutes of Health: U01 HL66682 (D.A.N.), 5R01HL094976-02 (D.A.N. and J.S.), 5R01HD048895 (M.J.B.) and 1R21HG004749-01 (J.S.).

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Correspondence to Gregory M Cooper.

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Cooper, G., Goode, D., Ng, S. et al. Single-nucleotide evolutionary constraint scores highlight disease-causing mutations. Nat Methods 7, 250–251 (2010).

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