PupasView -- a visual tool for selecting suitable SNPs, with putative pathological effect in genes, for genotyping purposes

What you can do:
Select single nucleotide polymorphisms (SNPs) with potential phenotypic effect.
Highlights:
  • PupasView retrieves SNPs that could affect conserved regions that the cellular machinery uses for the correct processing of genes (intron/exon boundaries or exonic splicing enhancers), predicted transcription factor binding sites and changes in amino acids in the proteins for which a putative pathological effect is calculated.
  • The program uses the mapping of SNPs in the genome provided by Ensembl.
  • PupasView will be of much help in studies of multifactorial disorders, where the use of functional SNPs will increase the sensitivity of the identification of the genes responsible for the disease.
  • PupasView constitutes an interactive environment in which functional information and population frequency data can be used as sequential filters over linkage disequilibrium parameters to obtain a final list of SNPs optimal for genotyping purposes.
  • It is the first resource that integrates phenotypic effects caused by SNPs at both the translational and the transcriptional level.
Keywords:
  • single nucleotide polymorphisms
  • SNPs
  • SNP discovery tool
  • SNP analysis tool
  • SNP mapping tool
  • insertion polymorphisms detection tool
  • deletion polymorphisms detection tool
  • genotyping tool
  • Genetic Predisposition to Disease
  • phenotype
  • genotype
  • disease genes
  • functional SNPs
This record last updated: 04-21-2014

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