Monday, September 24, 2012

Fwd: Evolutionary diagnosis method for variants in personal exomes

Fwd: please follow footer link
Evolutionary diagnosis method for variants in personal exomes:

Evolutionary diagnosis method for variants in personal exomes

Nature Methods 9, 855 (2012).
doi:10.1038/nmeth.2147

Authors: Sudhir Kumar, Maxwell Sanderford, Vanessa E Gray, Jieping Ye & Li Liu


Note: Each human exome contains thousands of nonsynonymous single-nucleotide variants (nSNVs) that have unknown biological effects. The potential impact of nSNVs on biological function is now routinely assessed using computational methods for application in biomedical research and clinical genome profiling reports. Of the variants receiving a non-neutral (function-damaging) prediction, those at evolutionarily conserved sites are frequently of heightened interest for scientists and clinicians because such sites are among the most critical for proper protein function. Indeed, a majority of amino acid mutations that have been investigated experimentally are located at ultraconserved sites1, which show no amino acid residue difference among diverse species spanning over 500 million years of evolution (Supplementary Fig. 1). Functionally damaging mutants at these sites are likely to have significant consequences for health and disease.


Web-link: http://129.219.114.161/EvoD/

(Original Post: Nature Methods current.)