Beyond race: towards a whole-genome perspective on human populations and genetic variation (original) (raw)

• Collins, F. S. & Mansoura, M. K. The human genome project: revealing the shared inheritance of all humankind. Cancer 91 (Suppl.), 221–225 (2001).
  Article CAS Google Scholar
• Subramanian, G. et al. Implications of the human genome for understanding human biology and medicine. JAMA 286, 2296–2307 (2001).
  Article CAS Google Scholar
• Chakravarti, A. Population genetics — making sense out of sequence. Nature Genet. 21, 56–60 (1999).
  Article CAS Google Scholar
• Kruglyak, L. & Nickerson, D. A. Variation is the spice of life. Nature Genet. 27, 234–236 (2001).
  Article CAS Google Scholar
• Foster, M. W. & Sharp, R. R. Race, ethnicity, and genomics: social classifications as proxies of biological heterogeneity. Genome Res. 12, 844–50 (2002).
  Article CAS Google Scholar
• Risch, N. et al. Categorizations of humans in biomedical research: genes, race and disease. Genome Biol. 3, 12 (2002).
  Article Google Scholar
• Cooper, R. S., Kaufman, J. S. & Ward, R. Race and genomics. N. Engl. J. Med. 348, 1166–1170 (2003).
  Article Google Scholar
• Burchard, E. G. et al. The importance of race and ethnic background in biomedical research and clinical practice. N. Engl. J. Med. 348, 1170–1175 (2003).
  Article Google Scholar
• Freeman, H. P. The meaning of race in science — considerations for cancer research — concerns of special populations in the National Cancer Program. Cancer 82, 219–225 (1998).
  Article CAS Google Scholar
• Collins, F. S. et al. A vision for the future of genomics research. Nature 422, 835–847 (2003).
  Article CAS Google Scholar
• Goldstein, D. B. & Chikhi, L. Human migrations and population structure: what we know and why it matters. Annu. Rev. Genomics Hum. Genet. 3, 129–152 (2002).
  Article CAS Google Scholar
• International HapMap Consortium. The International HapMap Project. Nature 426, 789–796 (2003).
• Johnson, G. C. L. et al. Haplotype tagging for the identification of common disease genes. Nature Genet. 29, 233–237 (2001).
  Article CAS Google Scholar
• Collins, F. S., Guyer, M. S. & Chakravarti, A. Variations on a theme: cataloging human DNA sequence variation. Science 278, 1580–1581 (1997).
  Article CAS Google Scholar
• Zhao, H. Y., Pfeiffer, R. & Gail, M. H. Haplotype analysis in population genetics and association studies. Pharmacogenomics 4, 171–178 (2003).
  Article Google Scholar
• Morton, N. E. Genetic epidemiology, genetic maps and positional cloning. Phil. Trans. R. Soc. Lond. B 358, 1701–1708 (2003).
  Article CAS Google Scholar
• Wall, J. D. & Pritchard, J. K. Haplotype blocks and linkage disequilibrium in the human genome. Nature Rev. Genet. 4, 587–597 (2003).
  Article CAS Google Scholar
• Cardon, L. R. & Abecasis, G. R. Using haplotype blocks to map human complex trait loci. Trends Genet. 19, 135–140 (2003).
  Article CAS Google Scholar
• Wilson, J. F. et al. Population genetic structure of variable drug response. Nature Genet. 29, 265–269 (2001).
  Article CAS Google Scholar
• Gabriel, S. B. et al. The structure of haplotype blocks in the human genome. Science 296, 2225–2229 (2002).
  Article CAS Google Scholar
• Goldstein, D. B. Islands of linkage disequilibrium. Nature Genet. 29, 109–111 (2001).
  Article CAS Google Scholar
• Daly, M. J. et al. High-resolution haplotype structure in the human genome. Nature Genet. 29, 229–232 (2001).
  Article CAS Google Scholar
• Calafell, F. Classifying humans. Nature Genet. 33, 435–436 (2003).
  Article CAS Google Scholar
• Van den Oord, E. J. C. G. & Neale, B. M. Will haplotype maps be useful for finding genes? Mol. Psychiatry 9, 227–236 (2004).
  Article CAS Google Scholar
• Weiss, K. M. & Clark, A. G. Linkage disequilibrium and the mapping of complex human traits. Trends Genet. 18, 19–24 (2002).
  Article CAS Google Scholar
• Lai, E. et al. Medical applications of haplotype-based SNP maps: learning to walk before we run. Nature Genet. 32, 353–54 (2002).
  Article CAS Google Scholar
• Shriver, M. D. et al. Skin pigmentation, biogeographical ancestry and admixture mapping. Hum. Genet. 112, 387–399 (2003).
  PubMed Google Scholar
• Bamshad, M. J. et al. Human population genetic structure and inference of group membership. Am. J. Hum. Genet. 72, 578–589 (2003).
  Article CAS Google Scholar
• Webster, M. T., Clegg, J. B. & Harding, R. M. Common 5′ β-globin RFLP haplotypes harbour a surprising level of ancestral sequence mosaic. Hum. Genet. 113, 123–139 (2003).
  CAS PubMed Google Scholar
• Gower, B. A. Using genetic admixture to explain racial differences in insulin-related phenotypes. Diabetes 52, 1047–1051 (2003).
  Article CAS Google Scholar
• Shifman, S. et al. Linkage disequilibrium patterns of the human genome across populations. Hum. Mol. Genet. 12, 771–776 (2003).
  Article CAS Google Scholar
• Lin, J. P. et al. Genealogy construction in a historically isolated population: application to genetic studies of rheumatoid arthritis in the Pima Indian. Genet. Med. 1, 187–193 (1999).
  Article CAS Google Scholar
• Zhou, X. et al. Genome-wide association study of systemic sclerosis susceptibility in a Choctaw Indian population with high disease prevalence. Arthritis Rheum. 48, 2585–2592 (2003).
  Article CAS Google Scholar
• Thornton, R. American Indian Holocaust and Survival: A Population History since 1492 (Univ. Oklahoma Press, USA, 1987).
  Google Scholar
• Sturm, C. Blood Politics: Race, Culture, and Identity in the Cherokee Nation of Oklahoma (Univ. California Press, USA, 2002).
  Google Scholar
• Carlson, C. S. et al. Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans. Nature Genet. 33, 518–521 (2003).
  Article CAS Google Scholar
• Wacholder, S., Rothman, N. & Caporaso, N. Population stratification in epidemiologic studies of common genetic variants and cancer: quantification of bias. J. Natl Cancer Inst. 92, 1151–1158 (2000).
  Article CAS Google Scholar
• Ziv, E. & Burchard, E. G. Human population structure and genetic association studies. Pharmacogenomics 4, 431–441 (2003).
  Article Google Scholar
• Weiss, K. M. & Terwilliger, J. D. How many diseases does it take to map a gene with SNPs? Nature Genet. 26, 151–157 (2000).
  Article CAS Google Scholar
• Cardon, L. R. & Palmer, L. J. Population stratification and spurious allelic association. Lancet 361, 598–604 (2003).
  Article Google Scholar
• Foster, M. W. & Aston, C. E. A practice approach for identifying previously unsuspected environmental contributors to SLE and other complex diseases. Environ. Health Persp. 111, 593–597 (2003).
  Article Google Scholar
• Zondervan, K. T. & Cardon, L. R. The complex interplay among factors that influence allelic association. Nature Rev. Genet. 5, 89–100 (2004).
  Article CAS Google Scholar
• Sankar, P. & Cho, M. K. Toward a new vocabulary of human genetic variation. Science 298, 1337–1338 (2002).
  Article CAS Google Scholar
• Jorde, L. B., Watkins, W. S. & Bamshad, M. J. Population genomics: a bridge from evolutionary history to genetic medicine. Hum. Mol. Genet. 10, 2199–2207 (2001).
  Article CAS Google Scholar
• Broder, C. & Venter, J. C. Whole genomes: the foundation of new biology and medicine. Curr. Opin. Biotechnol. 11, 581–585 (2000).
  Article CAS Google Scholar
• Cavalli-Sforza, L. L., Menozzi, P. & Piazza, A. The History and Geography of Human Genes (Princeton Univ. Press, USA, 1994).
  Google Scholar
• Rosenberg, N. A. et al. Genetic structure of human populations. Science 298, 2381–2385 (2002).
  Article CAS Google Scholar
• Pritchard, J. K. & Cox, N. J. The allelic architecture of human disease genes: common disease–common variant... or not? Hum. Mol. Genet. 11, 2417–2423 (2002).
  Article CAS Google Scholar
• Reich, D. E. & Lander, E. S. On the allelic spectrum of human disease. Trends Genet. 17, 502–510 (2001).
  Article CAS Google Scholar
• Sebastiani, P. et al. Minimal haplotype tagging. Proc. Natl Acad. Sci. USA 100, 9900–9905 (2003).
  Article CAS Google Scholar
• Weiss, K. M. & Terwilliger, J. D. How many diseases does it take to map a gene with SNPs? Nature Genet. 26, 151–157 (2000).
  Article CAS Google Scholar
• Clark, A. G. Finding genes underlying risk of complex disease by linkage disequilibrium mapping. Curr. Opin. Genet. Devel. 13, 296–302 (2003).
  Article CAS Google Scholar
• Smith D. J. & Lusis A. J. The allelic structure of common disease. Hum. Mol. Genet. 11, 2455–2461 (2002).
  Article CAS Google Scholar
• Reich, D. E. et al. Human genome sequence variation and the influence of gene history, mutation and recombination. Nature Genet. 32, 135–142 (2002).
  Article CAS Google Scholar
• Tishkoff, S. A. & Williams, S. M. Genetic analysis of African populations: human evolution and complex disease. Nature Rev. Genet. 3, 611–621 (2002).
  Article CAS Google Scholar