dbDNV -- Database of Duplicated-gene Nucleotide Variants

What you can do:
Find information about SNPs that might be duplicated-gene nucleotide variants.
Highlights:
  • dbDNV has been established to promote more accurate gene variation annotation.
  • Gene duplications are scattered widely throughout the human genome.
  • A single-base difference located in nearly identical duplicated segments may be misjudged as a single nucleotide polymorphism (SNP) from individuals.
  • This imperfection is undistinguishable in current genotyping methods.
  • As the next-generation sequencing technologies become more popular for sequence-based association studies, numerous ambiguous SNPs are rapidly accumulated.
  • Thus, analyzing duplication variations in the reference genome to assist in preventing false positive SNPs is imperative.
  • >10% of human genes associated with duplicated gene loci (DGL) have been identified.
  • 1,236,956 variations were designated as duplicated gene nucleotide variants (DNVs).
  • Aside from the flat file download, users can explore the gene-related duplications and the associated DNVs by DGL and DNV searches, respectively. In addition, the dbDNV contains 304,110 DNV-coupled SNPs.
  • From DNV-coupled SNP search, users observe which SNP records are also variants among duplicates.
  • This is useful while ∼58% of exonic SNPs in DGL are DNV-coupled.
Keywords:
  • duplicated-gene nucleotide variant
  • gene variant
  • single nucleotide polymorphism
This record last updated: 06-14-2011
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