The human genome diversity project: Past, present and future

Nature Reviews Genetics

Volumn 6, Issue 4, 2005, Pages 333-340

  Cavalli Sforza, L Luca ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CELL LINE; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; HUMAN GENOME PROJECT; PRINCIPAL COMPONENT ANALYSIS; PRIORITY JOURNAL; REVIEW; CHROMOSOME MAP; FORECASTING; GENETIC DISORDER; GENETICS; GENOME;

CHROMOSOME MAPPING; FORECASTING; GENETIC DISEASES, INBORN; GENOME, HUMAN; HUMAN GENOME PROJECT; HUMANS; VARIATION (GENETICS);

EID: 15944414175     PISSN: 14710056     EISSN: None     Source Type: Journal    
DOI: 10.1038/nrg1596     Document Type: Review

References (39)

1. Greely, H. T. Human genome diversity: what about the other human genome project? Nature Rev. Genet. 2, 222-227 (2001).
2. Cann, H. M. et al. A human genome diversity cell line panel. (letter) Science 296, 261 (2002).
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).
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).
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).
9. Rosenberg, N. A. et al. Genetic structure of human populations. Science 298, 2381-2385 (2002).
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).
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).
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).
13. Bersaglieri, T. et al. Genetic signatures of strong recent positive selection at the lactase gene. Am. J. Hum. Genet. 74, 1111-1120 (2004).
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).
15. Cavalli-Sforza, L. L. & Feldman, M. W. Biology as history: population genetic approaches to modern human evolution. Nature Genet. 33, 266-275 (2003).
16. Serre, D. & Paabo, S. Evidence for gradients of human genetic diversity within and among continents. Genome Res. 14, 1679-1685 (2004).
17. Horten, R. et al. Read all about it: the Lancet's paper of the Year, 2003. Lancet 362, 2101-2103 (2003).
18. Cavalli-Sforza, L. L. & Bodmer, W. The Genetics of Human Populations (Freeman, San Francisco, 1971; Dover, New York, 1999).
19. Risch, N. & Merikangas K. The future of genetic studies of complex human diseases. Science 273, 1516-1517 (1996).
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).
21. Reich, D. E. et al. Linkage disequilibrium in the human genome. Nature 411, 199-204 (2001).
22. Wall, J. D. & Pritchard, J. K. Haplotype blocks and linkage disequilibrium in the human genome. Nature Rev. Genet. 4, 587-597 (2003).
23. McVean, G. A. T. et al. The fine scale structure of recombination rate variation in the human genome. Science 304, 581-584 (2004).
24. Cavalli-Sforza, L. L., Menozzi, P. & Piazza, A. The History and Geography of Human Genes (Princeton Univ. Press, New Jersey, 1994).
25. Cavalli-Sforza, L. L. The DNA revolution in population genetics. Trends Genet. 14, 60-65 (1998).
26. Underbill, 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).
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).
28. th Int. Congress Genet. 3, 923-933 (1964).
29. Menozzi, P., Piazza, A. & Cavalli-Sforza, L. L. Synthetic gene frequency maps in Europe. Science 201, 786-792 (1978).
30. Cavalli-Sforza, L. L. Some current problems in human population genetics. Am. J. Hum. Genet. 25, 82-104 (1973).
31. Hirszfeld, L. & Hirszfeld, H. Essai d'application des methodes au probleme des races. Anthropologie 29, 505-537 (1919) (in French).
32. Race, R. R. & Sanger, R. Blood Groups in Man (Blackwell Scientific, Oxford, 1975).
33. Pauling, L., Itano, A. H., Singer, S. J. & Wells, I. C. Sickle cell anemia, a molecular disease. Science 110, 543-548 (1949).
34. Harris, H. The Principles of Human Biochemical Genetics 3rd edn (Elsevier; North Holland Biomedical Press, Amsterdam, 1980).
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).
36. Cavalli-Sforza, L. L. (ed.) African Pygmies (Academic. Orlando, 1986).
37. Pritchard, J. K., Stephens, M. & Donnelly, P. Inference of population structure using multilocus genotype data. Genetics 155, 945-959 (2000).
38. Bowcock, A. M. et. al. High resolution of human evolutionary trees with polymorphic microsatellites. Nature 368, 455-457(1994).
39. Barbujani, G. et al. An apportionment of human DNA diversity. Proc. Natl. Acad. Sci. USA 84, 4516-4519 (1997). s