Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2005 Jul 1;33(Web Server issue):W480-2.
doi: 10.1093/nar/gki372.

nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms

Affiliations

nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms

Lei Bao et al. Nucleic Acids Res. .

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/.

PubMed Disclaimer

Figures

Figure 1
Figure 1
The program design and data flow of nsSNPAnalyzer.
Figure 2
Figure 2
The output of nsSNPAnalyzer. (A) The main output page of nsSNPAnalyzer. The user can click the icon to see the interpretation of each field. (B) An example of local sequence alignment spanning the nsSNP (D7N). The original amino acid (D) is highlighted in blue, and the mutated amino acid (N) is highlighted in red.

Similar articles

Cited by

References

    1. 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
    1. Fredman D., Siegfried M., Yuan Y.P., Bork P., Lehvaslaiho H., Brookes A.J. HGVbase: a human sequence variation database emphasizing data quality and a broad spectrum of data sources. Nucleic Acids Res. 2002;30:387–391. - PMC - PubMed
    1. 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
    1. Ng P.C., Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003;31:3812–3814. - PMC - PubMed
    1. Ramensky V., Bork P., Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res. 2002;30:3894–3900. - PMC - PubMed

Publication types