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High-density single-nucleotide polymorphism maps of the human genome

Title
High-density single-nucleotide polymorphism maps of the human genome
Authors
Miller R.D.Phillips M.S.Jo I.Donaldson M.A.Studebaker J.F.Addleman N.Alfisi S.V.Ankener W.M.Bhatti H.A.Callahan C.E.Carey B.J.Conley C.L.Cyr J.M.Derohannessian V.Donaldson R.A.Elosua C.Ford S.E.Forman A.M.Gelfand C.A.Grecco N.M.Gutendorf S.M.Hock C.R.Hozza M.J.Hur S.Sun M.I.Jackson D.L.Sangmee A.J.Jung S.-C.Kim S.Kimm K.Kloss E.F.Koboldt D.C.Kuebler J.M.Kuo F.-S.Lathrop J.A.Lee J.-K.Leis K.L.Livingston S.A.Lovins E.G.Lundy M.L.Maggan S.Minton M.Mockler M.A.Morris D.W.Nachtman E.P.Oh B.Park C.Park C.-W.Pavelka N.Perkins A.B.Restine S.L.Sachidanandam R.Reinhart A.J.Scott K.E.Shah G.J.Tate J.M.Varde S.A.Walters A.White J.R.Yoo Y.-K.Lee J.-E.Boyce-Jacino M.T.Kwok P.-Y.
Ewha Authors
정성철
SCOPUS Author ID
정성철scopus
Issue Date
2005
Journal Title
Genomics
ISSN
0888-7543JCR Link
Citation
vol. 86, no. 2, pp. 117 - 126
Indexed
SCI; SCIE; SCOPUS scopus
Abstract
Here we report a large, extensively characterized set of single-nucleotide polymorphisms (SNPs) covering the human genome. We determined the allele frequencies of 55,018 SNPs in African Americans, Asians (Japanese-Chinese), and European Americans as part of The SNP Consortium's Allele Frequency Project. A subset of 8333 SNPs was also characterized in Koreans. Because these SNPs were ascertained in the same way, the data set is particularly useful for modeling. Our results document that much genetic variation is shared among populations. For autosomes, some 44% of these SNPs have a minor allele frequency ≥10% in each population, and the average allele frequency differences between populations with different continental origins are less than 19%. However, the several percentage point allele frequency differences among the closely related Korean, Japanese, and Chinese populations suggest caution in using mixtures of well-established populations for case-control genetic studies of complex traits. We estimate that ∼7% of these SNPs are private SNPs with minor allele frequencies <1%. A useful set of characterized SNPs with large allele frequency differences between populations (>60%) can be used for admixture studies. High-density maps of high-quality, characterized SNPs produced by this project are freely available. © 2005 Elsevier Inc. All rights reserved.
DOI
10.1016/j.ygeno.2005.04.012
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의학전문대학원 > 의학과 > Journal papers
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