Identification and Analysis of Deleterious Human SNPs

We have developed two methods of identifying which non-synonomous single base changes have a deleterious effect on protein function in vivo. One method, described elsewhere, analyzes the effect of the resulting amino acid change on protein stability, utilizing structural information. The other method, introduced here, makes use of the conservation and type of residues observed at a base change position within a protein family. A machine learning technique, the support vector machine, is trained on single amino acid changes that cause monogenic disease, with a control set of amino acid changes fixed between species.