International Journal of Engineering and Manufacturing (IJEM)
IJEM Vol. 1, No. 5, 5 Oct. 2011
Cover page and Table of Contents: PDF (size: 160KB)
Prioritization of Candidate Nonsynonymous Single Nucleotide Polymorphisms via Sequence Conservation Features
Full Text (PDF, 160KB), PP.66-72
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Author(s)
Jiaxin WU
1
Wangshu ZHANG
1
Rui JIANG
1,*
Index Terms
Prioritization, Nonsynonymous Single Nucleotide Polymorphisms (Nssnps), Guilt-By-Association, Euclidean Distance, Manhattan Distance
Abstract
The Detection of rare variants responsible for human complex diseases has been receiving more and more attentions. However, most existing computational methods for this purpose require the selection of functional variants before statistical analysis. Based on the assumption that nonsynonymous single nucleotide polymor-phisms (nsSNPs) associated with specific diseases should be similar in their properties, we propose a method that utilize conservation scores of nsSNPs and the guilt-by-association principle to prioritize the candi-date nsSNPs for specific diseases. Systematic validation demonstrates that our approach is effective in recovering the relationship between nsSNPs and diseases, with the Manhattan distance measure achieving the most pre-cise prediction results.
Cite This Paper
Jiaxin WU, Wangshu ZHANG, Rui JIANG,"Prioritization of Candidate Nonsynonymous Single Nucleotide Polymorphisms via Sequence Conservation Features", IJEM, vol.1, no.5, pp.66-72, 2011. DOI: 10.5815/ijem.2011.05.09
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