SNPit: A federated data integration system for the purpose of functional SNP annotation

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dc.contributor.authorTsai, Terry
dc.contributor.authorCarlson, Christopher S.
dc.contributor.authorTarczy-Hornoch, Peter
dc.date.accessioned2025-10-29T19:14:45Z
dc.date.issued2009-03-26
dc.description.abstractGenome wide association studies can potentially identify the genetic causes behind the majority of human diseases. With the advent of more advanced genotyping techniques, there is now an explosion of data gathered on single nucleotide polymorphisms (SNPs). The need exists for an integrated system that can provide up-to-date functional annotation information on SNPs. We have developed the SNP Integration Tool (SNPit) system to address this need. Built upon a federated data integration system, SNPit provides current information on a comprehensive list of SNP data sources. Additional logical inference analysis was included through an inference engine plug in. The SNPit web servlet is available online for use. SNPit allows users to go to one source for up-to-date information on the functional annotation of SNPs. A tool that can help to integrate and analyze the potential functional significance of SNPs is important for understanding the results from genome wide association studies.
dc.description.sponsorshipThis work was supported with the following grants: NIH NLM T15LM07442, NSF IIS-0513877, NIH NHGRI/NLM R01 HG02288. The authors would like to extend thanks to the BioDIAG and UII group for their contributions to the SNPit project.
dc.description.urihttps://www.sciencedirect.com/science/article/pii/S0169260709000807
dc.format.extent17 pages
dc.genrejournal articles
dc.genrepostprints
dc.identifierdoi:10.13016/m21erv-ojkj
dc.identifier.citationShen, Terry H., Christopher S. Carlson, and Peter Tarczy-Hornoch. “SNPit: A Federated Data Integration System for the Purpose of Functional SNP Annotation.” Computer Methods and Programs in Biomedicine 95, no. 2 (2009): 181–89. https://doi.org/10.1016/j.cmpb.2009.02.010.
dc.identifier.urihttps://doi.org/10.1016/j.cmpb.2009.02.010
dc.identifier.urihttp://hdl.handle.net/11603/40666
dc.language.isoen
dc.publisherElsevier
dc.relation.isAvailableAtThe University of Maryland, Baltimore County (UMBC)
dc.relation.ispartofUMBC Health Information Technology
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/4.0/deed.en
dc.subjectSNP annotation system
dc.subjectSNP integration system
dc.subjectData integration
dc.subjectBiomedical informatics
dc.subjectSingle nucleotide polymorphisms (SNPs)
dc.subjectPublic health genetics
dc.titleSNPit: A federated data integration system for the purpose of functional SNP annotation
dc.typeText

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