Skip to main content
. Author manuscript; available in PMC: 2012 Apr 27.
Published in final edited form as: Nature. 2011 Oct 12;478(7370):476–482. doi: 10.1038/nature10530

Figure 4. Utilizing constraint to identify candidate mutations.

Figure 4

Conservation can help us resolve amidst multiple SNPs the ones that disrupt conserved functional elements and are likely to have regulatory roles. In this example, a SNP (rs6504340) associated with tooth development is perfectly linked to a conserved intergenic SNP, rs8073963, 7.1kb away, which disrupts a deeply conserved Forkhead-family motif in a strong enhancer. While the SNPs shown here stem from GWAs or HAPMAP data, the same principle should be applicable also to associated variants detected by resequencing the region of interest.