The Human Genome Diversity Project: past, present and future (original) (raw)

References

  1. Greely, H. T. Human genome diversity: what about the other human genome project? Nature Rev. Genet. 2, 222–227 (2001).
    Article CAS PubMed Google Scholar
  2. Cann, H. M. et al. A human genome diversity cell line panel. (letter). Science 296, 261 (2002).
    Article CAS PubMed Google Scholar
  3. The International HapMap Consortium. The International HapMap Project. Nature 426, 789–795 (2003).
  4. The International HapMap Consortium. Integrating ethics and science in the International HapMap Project. Nature Rev. Genet. 5, 467–475 (2004).
  5. Cavalli-Sforza, L. L. How can one study individual variation for three billion nucleotides of the human genome? Am. J. Hum. Genet. 46, 649–651 (1990).
    CAS PubMed PubMed Central Google Scholar
  6. Cavalli-Sforza, L. L., Wilson, A. C., Cantor, C. R., Cook-Deegan, R. M. & King, M. -C. Call for a worldwide survey of human genetic diversity: a vanishing opportunity for the Human Genome Project. Genomics 11, 490–491 (1991).
    Article CAS PubMed Google Scholar
  7. Committee on Human Genome Diversity, National Research Council. Evaluating Human Genetic Diversity (US National Academy of Sciences, Washington DC, 1997).
  8. Dausset, J. et al. Centre d'Etude du Polymorphisme Humain (CEPH): collaborative genetic mapping of the human genome. Genomics 6, 575–577 (1990) (in French).
    Article CAS PubMed Google Scholar
  9. Rosenberg, N. A. et al. Genetic structure of human populations. Science 298, 2381–2385 (2002).
    Article CAS PubMed Google Scholar
  10. Zhivotovsky, L. A., Rosenberg, N. A. & Feldman, M. W. Features of evolution and expansion of modern humans, inferred from genomewide microsatellite markers. Am. J. Hum. Genet. 72, 1171–1186 (2003).
    Article CAS PubMed PubMed Central Google Scholar
  11. Ramachandran, S., Rosenberg, N. A., Zhivotovsky, L. A. & Feldman, M. W. On the robustness of the inference of human population structure. Hum. Genomics 1, 87–97 (2004).
    CAS PubMed PubMed Central Google Scholar
  12. Shi, M., Caprau, D., Romitti, P., Christensen, K. & Murray, J. C. Genotype frequencies and linkage disequilibrium in the CEPH Human Diversity Panel for variants in folate pathway genes MTHFR, MTHFD, MTRR, RFLI and GCP2. Birth Defects Res. A 67, 545–549 (2003).
    Article CAS Google Scholar
  13. Bersaglieri, T. et al. Genetic signatures of strong recent positive selection at the lactase gene. Am. J. Hum. Genet. 74, 1111–1120 (2004).
    Article CAS PubMed PubMed Central Google Scholar
  14. Macpherson, M. J., Ramachandran, S., Diamond, L. & Feldman, M. W. Demographic estimates from Y-chromosome microsatellite polymorphisms: analysis of a worldwide sample. Hum. Genomics 1, 345–354 (2004).
    Article CAS PubMed PubMed Central Google Scholar
  15. Cavalli-Sforza, L. L. & Feldman, M. W. Biology as history: population genetic approaches to modern human evolution. Nature Genet. 33, 266–275 (2003).
    Article CAS PubMed Google Scholar
  16. Serre, D. & Paabo, S. Evidence for gradients of human genetic diversity within and among continents. Genome Res. 14, 1679–1685 (2004).
    Article CAS PubMed PubMed Central Google Scholar
  17. Horten, R. et al. Read all about it: the Lancet's paper of the Year, 2003. Lancet 362, 2101–2103 (2003).
    Article Google Scholar
  18. Cavalli-Sforza, L. L. & Bodmer, W. The Genetics of Human Populations (Freeman, San Francisco, 1971; Dover, New York, 1999).
    Google Scholar
  19. Risch, N. & Merikangas K. The future of genetic studies of complex human diseases. Science 273, 1516–1517 (1996).
    Article CAS PubMed Google Scholar
  20. Roseman, C. C. Detecting inter-regionally diversifying natural selection of modern human cranial form using matched molecular and morphometric data. Proc. Natl Acad. Sci. 101, 12824–12829 (2004).
    Article CAS PubMed PubMed Central Google Scholar
  21. Reich, D. E. et al. Linkage disequilibrium in the human genome. Nature 411, 199–204 (2001).
    Article CAS PubMed Google Scholar
  22. Wall, J. D. & Pritchard, J. K. Haplotype blocks and linkage disequilibrium in the human genome. Nature Rev. Genet. 4, 587–597 (2003).
    Article CAS PubMed Google Scholar
  23. McVean, G. A. T. et al. The fine scale structure of recombination rate variation in the human genome. Science 304, 581–584 (2004).
    Article CAS PubMed Google Scholar
  24. Cavalli-Sforza, L. L., Menozzi, P. & Piazza, A. The History and Geography of Human Genes (Princeton Univ. Press, New Jersey, 1994).
    Google Scholar
  25. Cavalli-Sforza, L. L. The DNA revolution in population genetics. Trends Genet. 14, 60–65 (1998).
    Article CAS PubMed Google Scholar
  26. Underhill, P. A. et al. The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations. Ann. Hum. Genet. 65, 43–62 (2001).
    Article CAS PubMed Google Scholar
  27. Edmonds, C. A., Lillie, A. S. & Cavalli-Sforza, L. L. Mutations arising in the wave front of an expanding population. Proc. Natl Acad. Sci. USA 101, 975–979 (2004).
    Article CAS PubMed PubMed Central Google Scholar
  28. Cavalli-Sforza, L. L. & Edwards, A. W. F. Analysis of human evolution. _Genet. Today Proc. 11_th Int. Congress Genet. 3, 923–933 (1964).
    Google Scholar
  29. Menozzi, P., Piazza, A. & Cavalli-Sforza, L. L. Synthetic gene frequency maps in Europe. Science 201, 786–792 (1978).
    Article CAS PubMed Google Scholar
  30. Cavalli-Sforza, L. L. Some current problems in human population genetics. Am. J. Hum. Genet. 25, 82–104 (1973).
    CAS PubMed PubMed Central Google Scholar
  31. Hirszfeld, L. & Hirszfeld, H. Essai d'application des methodes au probleme des races. Anthropologie 29, 505–537 (1919) (in French).
    Google Scholar
  32. Race, R. R. & Sanger, R. Blood Groups in Man (Blackwell Scientific, Oxford, 1975).
    Google Scholar
  33. Pauling, L., Itano, A. H., Singer, S. J. & Wells, I. C. Sickle cell anemia, a molecular disease. Science 110, 543–548 (1949).
    Article CAS PubMed Google Scholar
  34. Harris, H. The Principles of Human Biochemical Genetics 3rd edn (Elsevier; North Holland Biomedical Press, Amsterdam, 1980).
    Google Scholar
  35. Cavalli-Sforza, L. L. et al. DNA markers and genetic variation in the human species. Cold Spring Harb. Symp. Quant. Biol. 51, 411–417 (1987).
    Article Google Scholar
  36. Cavalli-Sforza, L. L. (ed.) African Pygmies (Academic, Orlando, 1986).
    Google Scholar
  37. Pritchard, J. K., Stephens, M. & Donnelly, P. Inference of population structure using multilocus genotype data. Genetics 155, 945–959 (2000).
    CAS PubMed PubMed Central Google Scholar
  38. Bowcock, A. M. et al. High resolution of human evolutionary trees with polymorphic microsatellites. Nature 368, 455–457 (1994).
    Article CAS PubMed Google Scholar
  39. Barbujani, G. et al. An apportionment of human DNA diversity. Proc. Natl Acad. Sci. USA 84, 4516–4519 (1997).
    Article Google Scholar

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