Literature DB >> 19327864

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

Terry H Shen1, Christopher S Carlson, Peter Tarczy-Hornoch.   

Abstract

Genome 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.

Entities:  

Mesh:

Year:  2009        PMID: 19327864      PMCID: PMC2680224          DOI: 10.1016/j.cmpb.2009.02.010

Source DB:  PubMed          Journal:  Comput Methods Programs Biomed        ISSN: 0169-2607            Impact factor:   5.428


  24 in total

1.  dbSNP: the NCBI database of genetic variation.

Authors:  S T Sherry; M H Ward; M Kholodov; J Baker; L Phan; E M Smigielski; K Sirotkin
Journal:  Nucleic Acids Res       Date:  2001-01-01       Impact factor: 16.971

Review 2.  Candidate-gene approaches for studying complex genetic traits: practical considerations.

Authors:  Holly K Tabor; Neil J Risch; Richard M Myers
Journal:  Nat Rev Genet       Date:  2002-05       Impact factor: 53.242

3.  Genomic control for association studies.

Authors:  B Devlin; K Roeder
Journal:  Biometrics       Date:  1999-12       Impact factor: 2.571

4.  SNPper: retrieval and analysis of human SNPs.

Authors:  A Riva; I S Kohane
Journal:  Bioinformatics       Date:  2002-12       Impact factor: 6.937

5.  Systems biology and new technologies enable predictive and preventative medicine.

Authors:  Leroy Hood; James R Heath; Michael E Phelps; Biaoyang Lin
Journal:  Science       Date:  2004-10-22       Impact factor: 47.728

6.  LS-SNP: large-scale annotation of coding non-synonymous SNPs based on multiple information sources.

Authors:  Rachel Karchin; Mark Diekhans; Libusha Kelly; Daryl J Thomas; Ursula Pieper; Narayanan Eswar; David Haussler; Andrej Sali
Journal:  Bioinformatics       Date:  2005-04-12       Impact factor: 6.937

Review 7.  Data integration and genomic medicine.

Authors:  Brenton Louie; Peter Mork; Fernando Martin-Sanchez; Alon Halevy; Peter Tarczy-Hornoch
Journal:  J Biomed Inform       Date:  2006-03-09       Impact factor: 6.317

8.  SNP Function Portal: a web database for exploring the function implication of SNP alleles.

Authors:  Pinglang Wang; Manhong Dai; Weijian Xuan; Richard C McEachin; Anne U Jackson; Laura J Scott; Brian Athey; Stanley J Watson; Fan Meng
Journal:  Bioinformatics       Date:  2006-07-15       Impact factor: 6.937

9.  Biomediator data integration and inference for functional annotation of anonymous sequences.

Authors:  Eithon Cadag; Brent Louie; Peter J Myler; Peter Tarczy-Hornoch
Journal:  Pac Symp Biocomput       Date:  2007

10.  Entrez Gene: gene-centered information at NCBI.

Authors:  Donna Maglott; Jim Ostell; Kim D Pruitt; Tatiana Tatusova
Journal:  Nucleic Acids Res       Date:  2005-01-01       Impact factor: 16.971

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  11 in total

1.  Natural variability of minimotifs in 1092 people indicates that minimotifs are targets of evolution.

Authors:  Kenneth F Lyon; Christy L Strong; Steve G Schooler; Richard J Young; Nervik Roy; Brittany Ozar; Mark Bachmeier; Sanguthevar Rajasekaran; Martin R Schiller
Journal:  Nucleic Acids Res       Date:  2015-06-11       Impact factor: 16.971

2.  Evaluation of probabilistic and logical inference for a SNP annotation system.

Authors:  Terry H Shen; Peter Tarczy-Hornoch; Landon T Detwiler; Eithon Cadag; Christopher S Carlson
Journal:  J Biomed Inform       Date:  2009-12-14       Impact factor: 6.317

3.  FunctSNP: an R package to link SNPs to functional knowledge and dbAutoMaker: a suite of Perl scripts to build SNP databases.

Authors:  Stephen J Goodswen; Cedric Gondro; Nathan S Watson-Haigh; Haja N Kadarmideen
Journal:  BMC Bioinformatics       Date:  2010-06-09       Impact factor: 3.169

Review 4.  Towards precision medicine: advances in computational approaches for the analysis of human variants.

Authors:  Thomas A Peterson; Emily Doughty; Maricel G Kann
Journal:  J Mol Biol       Date:  2013-08-17       Impact factor: 5.469

5.  AnnotQTL: a new tool to gather functional and comparative information on a genomic region.

Authors:  F Lecerf; A Bretaudeau; O Sallou; C Desert; Y Blum; S Lagarrigue; O Demeure
Journal:  Nucleic Acids Res       Date:  2011-05-19       Impact factor: 16.971

6.  GWASdb: a database for human genetic variants identified by genome-wide association studies.

Authors:  Mulin Jun Li; Panwen Wang; Xiaorong Liu; Ee Lyn Lim; Zhangyong Wang; Meredith Yeager; Maria P Wong; Pak Chung Sham; Stephen J Chanock; Junwen Wang
Journal:  Nucleic Acids Res       Date:  2011-12-01       Impact factor: 16.971

7.  Snat: a SNP annotation tool for bovine by integrating various sources of genomic information.

Authors:  Jicai Jiang; Li Jiang; Bin Zhou; Weixuan Fu; Jian-Feng Liu; Qin Zhang
Journal:  BMC Genet       Date:  2011-10-07       Impact factor: 2.797

8.  dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions.

Authors:  Xiaoming Liu; Xueqiu Jian; Eric Boerwinkle
Journal:  Hum Mutat       Date:  2011-08       Impact factor: 4.878

9.  Evaluating the accuracy of a functional SNP annotation system.

Authors:  Terry H Shen; Christopher S Carlson; Peter Tarczy-Hornoch
Journal:  BMC Bioinformatics       Date:  2009-09-17       Impact factor: 3.169

10.  Snpdat: easy and rapid annotation of results from de novo snp discovery projects for model and non-model organisms.

Authors:  Anthony G Doran; Christopher J Creevey
Journal:  BMC Bioinformatics       Date:  2013-02-08       Impact factor: 3.169

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