nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms
- PMID: 15980516
- PMCID: PMC1160133
- DOI: 10.1093/nar/gki372
nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms
Abstract
Nonsynonymous single nucleotide polymorphisms (nsSNPs) are prevalent in genomes and are closely associated with inherited diseases. To facilitate identifying disease-associated nsSNPs from a large number of neutral nsSNPs, it is important to develop computational tools to predict the nsSNP's phenotypic effect (disease-associated versus neutral). nsSNPAnalyzer, a web-based software developed for this purpose, extracts structural and evolutionary information from a query nsSNP and uses a machine learning method called Random Forest to predict the nsSNP's phenotypic effect. nsSNPAnalyzer server is available at http://snpanalyzer.utmem.edu/.
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References
-
- Stenson P.D., Ball E.V., Mort M., Phillips A.D., Shiel J.A, Thomas N.S., Abeysinghe S., Krawczak M., Cooper D.N. Human Gene Mutation Database (HGMD): 2003 update. Hum. Mutat. 2003;21:577–581. - PubMed
-
- Irizarry K., Kustanovich V., Li C., Brown N., Nelson S., Wong W., Lee C.J. Comprehensive EST analysis of single nucleotide polymorphism across coding regions of the human genome. Nature Genet. 2000;26:233–236. - PubMed
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