FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization
Top Cited Papers
Open Access
- 1 July 2006
- journal article
- research article
- Published by Oxford University Press (OUP) in Nucleic Acids Research
- Vol. 34 (Web Server), W635-W641
- https://doi.org/10.1093/nar/gkl236
Abstract
Single nucleotide polymorphism (SNP) prioritization based on the phenotypic risk is essential for association studies. Assessment of the risk requires access to a variety of heterogeneous biological databases and analytical tools. FASTSNP (function analysis and selection tool for single nucleotide polymorphisms) is a web server that allows users to efficiently identify and prioritize high-risk SNPs according to their phenotypic risks and putative functional effects. A unique feature of FASTSNP is that the functional effect information used for SNP prioritization is always up-to-date, because FASTSNP extracts the information from 11 external web servers at query time using a team of web wrapper agents. Moreover, FASTSNP is extendable by simply deploying more Web wrapper agents. To validate the results of our prioritization, we analyzed 1569 SNPs from the SNP500Cancer database. The results show that SNPs with a high predicted risk exhibit low allele frequencies for the minor alleles, consistent with a well-known finding that a strong selective pressure exists for functional polymorphisms. We have been using FASTSNP for 2 years and FASTSNP enables us to discover a novel promoter polymorphism. FASTSNP is available at http://fastsnp.ibms.sinica.edu.tw .Keywords
This publication has 30 references indexed in Scilit:
- Systematic discovery of regulatory motifs in human promoters and 3′ UTRs by comparison of several mammalsNature, 2005
- Regulatory SNPs in complex diseases: their identification and functional validationExpert Reviews in Molecular Medicine, 2004
- GenBank: updateNucleic Acids Research, 2004
- The International HapMap ProjectNature, 2003
- Integrating biological databasesNature Reviews Genetics, 2003
- A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humansNature Genetics, 2002
- Candidate-gene approaches for studying complex genetic traits: practical considerationsNature Reviews Genetics, 2002
- Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1Nature Genetics, 2002
- Towards a structural basis of human non-synonymous single nucleotide polymorphismsTrends in Genetics, 2000
- Characterization of single-nucleotide polymorphisms in coding regions of human genesNature Genetics, 1999