Assembling a comprehensive catalog of common human sequence polymorphisms is a key goal of the Human Genome Project. The International SNP Map Working Group has compiled a map of 1.4 million single-nucleotide polymorphisms. What fraction of all human sequence variation is captured in this collection, and what further advances are needed before the map becomes a useful tool for genetic studies?
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References
Collins, F.S., Guyer, M.S. & Chakravarti, A. Science 278, 1580–1581 (1997).
Collins, F.S. et al. Science 282, 682–689 (1998).
The International SNP Map Working Group Nature 409, 928–933 (2001).
Przeworski, M., Hudson, R.R. & Di Rienzo, A. Trends Genet. 16, 296–302 (2000).
International Human Genome Sequencing Consortium Nature 409, 860–921 (2001).
Cargill, M. et al. Nature Genet. 22, 231–238 (1999).
Halushka, M.K. et al. Nature Genet. 22, 239–247 (1999).
Landegren, U., Nilsson, M. & Kwok, P.-Y. Genome Res. 8, 769–776 (1998).
Wang, D.G. et al. Science 280, 1077–1082 (1998).
Kruglyak, L. Proc. Natl. Acad. Sci. USA 96, 1170–1172 (1999).
Ewing, B. & Green, P. Nature Genet. 25, 232–234 (2000).
Roest Crollius, H. et al. Nature Genet. 25, 235–238 (2000).
Lander, E.S. Science 274, 536–539 (1996).
Risch, N. & Merikangas, K. Science 273, 1516–1517 (1996).
Boehnke, M. Nature Genet. 25, 246–247 (2000).
Collins, A., Lonjou, C. & Morton, N.E. Proc. Natl. Acad. Sci. USA 96, 15173–15177 (1999).
Dunning, A.M. et al. Am. J. Hum. Genet. 67, 1544–1554 (2000).
Kruglyak, L. Nature Genet. 22, 139–144 (1999).
Weiss, K.M. & Terwilliger, J.D. Nature Genet. 26, 151–157 (2000).
Altshuler, D., Daly, M. & Kruglyak, L. Nature Genet. 26, 135–137 (2000).
Horikawa, Y. et al. Nature Genet. 26, 163–175 (2000).
Ewens, W.J. Theor. Popul. Biol. 3, 87–112 (1972).
Eberle, M.A. & Kruglyak, L. Genet. Epidemiol. 19, S29–35 (2000).
Durrett, R. & Limic, V. Stoch. Processes Appl. (in press).
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Kruglyak, L., Nickerson, D. Variation is the spice of life. Nat Genet 27, 234–236 (2001). https://doi.org/10.1038/85776
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DOI: https://doi.org/10.1038/85776
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