MRC Centre (CAiTE) and Bristol Genetic Epidemiology Laboratories, Department of Social Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UK.
Hum Mutat. 2010 Jan;31(1):2-4. doi: 10.1002/humu.21149.
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.
dbSNP 是由 NCBI 维护的一个遗传多态性综合目录，主要整理单核苷酸变异的信息，其中许多将是单核苷酸多态性 (SNP)，但也包括小的插入和缺失。它从许多来源接受提交，现在也包括大量通过下一代测序确定的序列变异。一些不同设计的研究试图估计 dbSNP 中存档数据的错误率。最近的一项研究增加了早期研究，确定了重复序列和拷贝数变异 (CNVs)的具体问题；早期的分析侧重于终止密码子、剪接位点和 dbSNP 的一般内容。本文概述了 dbSNP 本身、这些研究及其意义。
