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
Literature & Tutorials:
This record last updated: 06-14-2011