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PMID: 16845085 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

PupaSuite: finding functional single nucleotide polymorphisms for large-scale genotyping purposes.

Nucleic acids research ·Vol. 34 ·No. Web Server issue ·2006-07-01 ·Pages W621-5

Conde L, Vaquerizas JM, Dopazo H, Arbiza L, Reumers J, Rousseau F, Schymkowitz J, Dopazo J

Abstract

We have developed a web tool, PupaSuite, for the selection of single nucleotide polymorphisms (SNPs) with potential phenotypic effect, specifically oriented to help in the design of large-scale genotyping projects. PupaSuite uses a collection of data on SNPs from heterogeneous sources and a large number of pre-calculated predictions to offer a flexible and intuitive interface for selecting an optimal set of SNPs. It improves the functionality of PupaSNP and PupasView programs and implements new facilities such as the analysis of user's data to derive haplotypes with functional information. A new estimator of putative effect of polymorphisms has been included that uses evolutionary information. Also SNPeffect database predictions have been included. The PupaSuite web interface is accessible through http://pupasuite.bioinfo.cipf.es and through http://www.pupasnp.org.

MeSH Terms
Algorithms Computer Graphics Databases, Nucleic Acid Evolution, Molecular Genotype Haplotypes Internet Linkage Disequilibrium Polymorphism, Single Nucleotide Software User-Computer Interface
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Conde Lucía
Department of Bioinformatics, Centro de Investigación Príncipe Felipe (CIPF), Valencia, 46013, Spain.
Vaquerizas Juan M
Dopazo Hernán
Arbiza Leonardo
Reumers Joke
Rousseau Frederic
Schymkowitz Joost
Dopazo Joaquín
References (31)
31 references, click to expand
  1. A method for detecting positive selection at single amino acid sites.
    Mol Biol Evol. 1999 Oct;16(10):1315-28 PMID: 10563013
  2. TRANSFAC: an integrated system for gene expression regulation.
    Nucleic Acids Res. 2000 Jan 1;28(1):316-9 PMID: 10592259
  3. Codon-substitution models for heterogeneous selection pressure at amino acid sites.
    Genetics. 2000 May;155(1):431-49 PMID: 10790415
  4. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease.
    Nat Genet. 2003 Mar;33 Suppl:228-37 PMID: 12610532
  5. A vision for the future of genomics research.
    Nature. 2003 Apr 24;422(6934):835-47 PMID: 12695777
  6. Triplex-forming oligonucleotide target sequences in the human genome.
    Nucleic Acids Res. 2004;32(1):354-60 PMID: 14726484
  7. PupaSNP Finder: a web tool for finding SNPs with putative effect at transcriptional level.
    Nucleic Acids Res. 2004 Jul 1;32(Web Server issue):W242-8 PMID: 15215388
  8. Prediction of sequence-dependent and mutational effects on the aggregation of peptides and proteins.
    Nat Biotechnol. 2004 Oct;22(10):1302-6 PMID: 15361882
  9. PAML: a program package for phylogenetic analysis by maximum likelihood.
    Comput Appl Biosci. 1997 Oct;13(5):555-6 PMID: 9367129
  10. Ensembl 2005.
    Nucleic Acids Res. 2005 Jan 1;33(Database issue):D447-53 PMID: 15608235
  11. SNPeffect: a database mapping molecular phenotypic effects of human non-synonymous coding SNPs.
    Nucleic Acids Res. 2005 Jan 1;33(Database issue):D527-32 PMID: 15608254
  12. Beyond Mendel: an evolving view of human genetic disease transmission.
    Nat Rev Genet. 2002 Oct;3(10):779-89 PMID: 12360236
  13. Distribution of recombination crossovers and the origin of haplotype blocks: the interplay of population history, recombination, and mutation.
    Am J Hum Genet. 2002 Nov;71(5):1227-34 PMID: 12384857
  14. Partition-ligation-expectation-maximization algorithm for haplotype inference with single-nucleotide polymorphisms.
    Am J Hum Genet. 2002 Nov;71(5):1242-7 PMID: 12452179
  15. Human-mouse alignments with BLASTZ.
    Genome Res. 2003 Jan;13(1):103-7 PMID: 12529312
  16. Haploview: analysis and visualization of LD and haplotype maps.
    Bioinformatics. 2005 Jan 15;21(2):263-5 PMID: 15297300
  17. Sequence-based prediction of pathological mutations.
    Proteins. 2004 Dec 1;57(4):811-9 PMID: 15390262
  18. Detecting amino acid sites under positive selection and purifying selection.
    Genetics. 2005 Mar;169(3):1753-62 PMID: 15654091
  19. Bayes empirical bayes inference of amino acid sites under positive selection.
    Mol Biol Evol. 2005 Apr;22(4):1107-18 PMID: 15689528
  20. The FoldX web server: an online force field.
    Nucleic Acids Res. 2005 Jul 1;33(Web Server issue):W382-8 PMID: 15980494
  21. PupasView: a visual tool for selecting suitable SNPs, with putative pathological effect in genes, for genotyping purposes.
    Nucleic Acids Res. 2005 Jul 1;33(Web Server issue):W501-5 PMID: 15980522
  22. A haplotype map of the human genome.
    Nature. 2005 Oct 27;437(7063):1299-320 PMID: 16255080
  23. Efficiency and power in genetic association studies.
    Nat Genet. 2005 Nov;37(11):1217-23 PMID: 16244653
  24. Database resources of the National Center for Biotechnology Information.
    Nucleic Acids Res. 2006 Jan 1;34(Database issue):D173-80 PMID: 16381840
  25. Selective pressures at a codon-level predict deleterious mutations in human disease genes.
    J Mol Biol. 2006 May 19;358(5):1390-404 PMID: 16584746
  26. Searching for genetic determinants in the new millennium.
    Nature. 2000 Jun 15;405(6788):847-56 PMID: 10866211
  27. Understanding human disease mutations through the use of interspecific genetic variation.
    Hum Mol Genet. 2001 Oct 1;10(21):2319-28 PMID: 11689479
  28. Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties.
    J Mol Biol. 2002 Jan 25;315(4):771-86 PMID: 11812146
  29. Listening to silence and understanding nonsense: exonic mutations that affect splicing.
    Nat Rev Genet. 2002 Apr;3(4):285-98 PMID: 11967553
  30. Codon-substitution models for detecting molecular adaptation at individual sites along specific lineages.
    Mol Biol Evol. 2002 Jun;19(6):908-17 PMID: 12032247
  31. The structure of haplotype blocks in the human genome.
    Science. 2002 Jun 21;296(5576):2225-9 PMID: 12029063
Article Info
Journal
Nucleic acids research
Abbr.
Nucleic Acids Res
ISSN
1362-4962
Published
2006-07-01
Pages
W621-5
Language
English
Region
England
NLM ID
0411011
PMCID
PMC1538854
Subset
IM
Analysis Services
Analysis Services

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