dbSNP in the Detail and Copy Number Complexities

被引：43

作者：

Day, Ian N. M. ^{[1
,2
]}

机构：

[1] Univ Bristol, Dept Social Med, Bristol Genet Epidemiol Labs, Bristol BS8 2BN, Avon, England

[2] Univ Bristol, MRC Ctr CAiTe, Bristol BS8 2BN, Avon, England

来源：

HUMAN MUTATION | 2010年 / 31卷 / 01期

基金：

英国医学研究理事会;

关键词：

dbSNP; multisite variants; Hardy-Weinberg equilibrium test; HWE; paucimorphisms; SNP; CNV; GENOME; SEQUENCE;

D O I：

10.1002/humu.21149

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. Hum Mutat 31:2-4, 2010. (C) 2009 Wiley-Liss, Inc.

引用

页码：2 / 4

页数：3

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