dbDNV: a resource of duplicated gene nucleotide variants in human genome

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 sequencebased 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. We have identified >10% of human genes associated with duplicated gene loci (DGL). Through meticulous sequence alignments of DGL, we systematically designated 1 236 956 variations as duplicated gene nucleotide variants (DNVs). The DNV database (dbDNV) (http://goods.ibms.sinica .edu.tw/DNVs/) has been established to promote more accurate variation annotation. Aside from the flat file download, users can explore the generelated d...

• Type: Journal
• Year: 2011
• Where: NAR
• Authors: Meng-Ru Ho, Kuo-Wang Tsai, Chun-houh Chen, Wen-chang Lin
• Keywords: Human Genes, NAR 2011, Nucleotide Polymorphism, Sequence Alignments