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Single-nucleotide polymorphisms in the public domain: how useful are they?


There is a concerted effort by a number of public and private groups to identify a large set of human single-nucleotide polymorphisms1,2 (SNPs). As of March 2001, 2.84 million SNPs have been deposited in the public database, dbSNP, at the National Center for Biotechnology Information ( The 2.84 million SNPs can be 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 ≥20%) in any given population.

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We thank E.P.H. Yap for the Asian samples; M. Boyce-Jacino for the Caucasian and African American samples; R. Sachidanandam and L. Stein for TSC sequence information; and S. Sherry and E.H. Lai for discussion. This work is funded in part by grants from the National Human Genome Research Institute (HG01720) and the SNP Consortium.

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Correspondence to Pui-Yan Kwok.

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Marth, G., Yeh, R., Minton, M. et al. Single-nucleotide polymorphisms in the public domain: how useful are they?. Nat Genet 27, 371–372 (2001).

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