Single-nucleotide polymorphisms in the public domain: how useful are they?
Single-nucleotide polymorphisms in the public domain: how useful are they?
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DOI：
10.1038/86864
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发表时间：
2001-04-01
期刊：
影响因子：
30.8
通讯作者：
Kwok, PY
中科院分区：
文献类型：
--
作者：
Marth, G;Yeh, R;Kwok, PY
许多公共和私人团体共同努力，以确定大量的人类单核苷酸多态性（1，2）（SNP）。截至2001年3月，在国家生物技术信息中心的公共数据库dbSNP（http：//www.ncbi.nlm.nih.gov/SNP/）中已经保存了284万个SNPs。这284万个SNP可以分为165万个非冗余SNP。作为国际SNP图谱工作组的一部分，我们最近发表了一份由142万个SNP组成的人类基因组高密度SNP图谱（参考文献3）。此外，许多SNP被保存在专有数据库中。我们对超过1,200个SNP的调查表明，超过80%的TSC和华盛顿大学候选SNP是多态性的，并且来自这两个来源的候选SNP中约50%是任何给定人群中常见的SNP（次要等位基因频率大于或等于20%）。
There is a concerted effort by a number of public and private groups to identify a large set of human single-nucleotide polymorphisms(1,2) (SNPs). As of March 2001, 2.84 million SNPs have been deposited in the public database, dbSNP, at the National Center for Biotechnology Information (http://www.ncbi.nlm.nih.gov/SNP/). The 2.84 million SNPs can he grouped into 1.65 million non-redundant SNPs. As part of the International SNP Map Working Group, we recently published a high-density SNP map of the human genome consisting of 1.42 million SNPs (ref. 3). In addition, numerous SNPs are maintained in proprietary databases. Our survey of more than 1,200 SNPs indicates that more than 80% of TSC and Washington University candidate SNPs are polymorphic and that approximately 50% of the candidate SNPs from these two sources are common SNPs (with minor allele frequency of greater than or equal to 20%) in any given population.