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AMIA Annu Symp Proc

In an attempt to validate the use of evolutionary conservation as a method to identify putative regulatory elements, we have quantified the frequency of Single Nucleotide Polymorphisms (SNPs) within the most tightly conserved regions across the entire Human Genome. Our results show that conserved non-coding sequences have a significantly lower SNP frequency than their exonic counterparts, which suggests that these regions are functionally important.

Saluja SK, Kohane I. Localization and characterization of mouse-human alignments within the human genome. Does evolutionary conservation suggest functional importance? AMIA .. Annual Symposium proceedings. AMIA Symposium. 2003:994.