期刊
HUMAN MUTATION
卷 31, 期 1, 页码 2-4出版社
WILEY
DOI: 10.1002/humu.21149
关键词
dbSNP; multisite variants; Hardy-Weinberg equilibrium test; HWE; paucimorphisms; SNP; CNV
资金
- Medical Research Council [G0600705] Funding Source: Medline
- MRC [G0600705] Funding Source: UKRI
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.
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