title: dbSNP in the detail and copy number complexities.
abstract: dbSNP is a general catalog of genetic polymorphism maintained by NCBI, mainly collating information for single nucleotide variations, many of which will be single nucleotide polymorphisms (SNPs), but also including small indels. It takes submissions from many sources, now also including large numbers of sequence variants identified by next-generation sequencing. A number of differently designed studies have attempted to estimate the error rates in data archived in dbSNP. Most recently, a study added to earlier studies identifying specific issues for duplicons and copy number variations (CNVs); earlier analyses have focused on stop codons, splice sites, and the general content of dbSNP. This article overviews dbSNP itself, these studies, and their implications.
authors.affiliation: MRC Centre (CAiTE) and Bristol Genetic Epidemiology Laboratories, Department of Social Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UK. ian.day@bristol.ac.uk
authors.forename: Ian N M
authors.initials: IN
authors.lastname: Day
mesh_terms: D030541:Databases, Genetic / Q000592:standards; D018628:Gene Dosage; D014644:Genetic Variation; D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D009154:Mutation; D020641:Polymorphism, Single Nucleotide