Article
Single nucleotide variations: biological impact and theoretical interpretation.
Protein science : a publication of the Protein Society - 1 Dec 2014
Katsonis Panagiotis, Koire Amanda, Wilson Stephen Joseph, Hsu Teng-Kuei, Lua Rhonald C, Wilkins Angela Dawn, Lichtarge Olivier
Abstract excerpt
Genome-wide association studies (GWAS) and whole-exome sequencing (WES) generate massive amounts of genomic variant information, and a major challenge is to identify which variations drive disease or contribute to phenotypic traits. Because the majority of known disease-causing mutations are exonic non-synonymous single nucleotide variations (nsSNVs), most studies focus on whether these nsSNVs affect protein...
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