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The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.

Genotype, haplotype and copy-number variation in worldwide human populations

Jakobsson, Mattias, Scholz, Sonja W., Scheet, Paul, Gibbs, J. Raphael, VanLiere, Jenna M., Fung, Hon-Chung, Szpiech, Zachary A., Degnan, James H., Wang, Kai, Guerreiro, Rita, Bras, Jose M., Schymick, Jennifer C., Hernandez, Dena G., Traynor, Bryan J., Simon-Sanchez, Javier, Matarin, Mar, Britton, Angela, van de Leemput, Joyce, Rafferty, Ian, Bucan, Maja, Cann, Howard M., Hardy, John A., Rosenberg, Noah A., Singleton, Andrew B.·2008·Nature
DOI 10.1038/nature06742
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Crossref · 10.1038/nature06742

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  • It is likely that for many GWAS loci the risk is imparted by haplotypes rather than individual SNPs, as evident by high correlation of local haplotypes and SNPs at a global level of the human genome.

    “Indeed, it is likely that for many GWAS loci the risk is imparted by haplotypes rather than individual SNPs, as is evident by high correlation of local haplotypes and SNPs at a global level of the human genome (Jakobsson et al., 2008), making isogenic approaches more challenging.”

    From Cholesterol and matrisome pathways dysregulated in astrocytes and microglia (2022) · cites this paper as Jakobsson et al., 2008

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Citations

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Research works printed but not linked: 28

  1. The International Haplotype Map Consortium. A haplotype map of the human genome. Nature 437, 1299–1320 (2005) · DOI · Paper page
  2. Hinds, D. A. et al. Whole-genome patterns of common DNA variation in three human populations. Science 307, 1072–1079 (2005) · DOI
  3. Redon, R. et al. Global variation in copy number in the human genome. Nature 444, 444–454 (2006) · DOI
  4. Cann, H. M. et al. A human genome diversity cell line panel. Science 296, 261–262 (2002) · DOI
  5. Kalinowski, S. T. Counting alleles with rarefaction: private alleles and hierarchical sampling designs. Conserv. Genet. 5, 539–543 (2004) · DOI
  6. Falush, D., Stephens, M. & Pritchard, J. K. Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies. Genetics 164, 1567–1587 (2003) · DOI
  7. Bastos-Rodrigues, L., Pimenta, J. R. & Pena, S. D. J. The genetic structure of human populations studied through short insertion–deletion polymorphisms. Ann. Hum. Genet. 70, 658–665 (2006) · DOI
  8. Rosenberg, N. A. et al. Clines, clusters, and the effect of study design on the inference of human population structure. PLoS Genet. 1, e70 (2005) · DOI
  9. Rosenberg, N. A. et al. Genetic structure of human populations. Science 298, 2381–2385 (2002) · DOI · Paper page
  10. Lawson Handley, L. J., Manica, A., Goudet, J. & Balloux, F. Going the distance: human population genetics in a clinal world. Trends Genet. 23, 432–439 (2007) · DOI
  11. Ramachandran, S. et al. Support from the relationship of genetic and geographic distance in human populations for a serial founder effect originating in Africa. Proc. Natl Acad. Sci. USA 102, 15942–15947 (2005) · DOI · Paper page
  12. Sabatti, C. & Risch, N. Homozygosity and linkage disequilibrium. Genetics 160, 1707–1719 (2002) · DOI
  13. Conrad, D. F. et al. A worldwide survey of haplotype variation and linkage disequilibrium in the human genome. Nature Genet. 38, 1251–1260 (2006) · DOI
  14. Reich, D. E. et al. Linkage disequilibrium in the human genome. Nature 411, 199–204 (2001) · DOI
  15. Tishkoff, S. A. & Kidd, K. K. Implications of biogeography of human populations for ‘race’ and medicine. Nature Genet. 36, S21–S27 (2004) · DOI
  16. McVean, G. A. T. A genealogical interpretation of linkage disequilibrium. Genetics 162, 987–991 (2002) · DOI
  17. Bersaglieri, T. et al. Genetic signatures of strong recent positive selection at the lactase gene. Am. J. Hum. Genet. 74, 1111–1120 (2004) · DOI
  18. Wang, K. et al. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res. 17, 1665–1674 (2007) · DOI · Paper page
  19. Wong, K. K. et al. A comprehensive analysis of common copy-number variations in the human genome. Am. J. Hum. Genet. 80, 91–104 (2007) · DOI
  20. Locke, D. P. et al. Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am. J. Hum. Genet. 79, 275–290 (2006) · DOI
  21. Sharp, A. J. et al. Segmental duplications and copy-number variation in the human genome. Am. J. Hum. Genet. 77, 78–88 (2005) · DOI
  22. Scherer, S. W. et al. Challenges and standards in integrating surveys of structural variation. Nature Genet. 39, S7–S15 (2007) · DOI
  23. Servin, B. & Stephens, M. Imputation-based analysis of association studies: candidate regions and quantitative traits. PLoS Genet. 3, e114 (2007) · DOI
  24. Need, A. C. & Goldstein, D. B. Genome-wide tagging for everyone. Nature Genet. 38, 1227–1228 (2006) · DOI
  25. Eberle, M. A., Rieder, M. J., Kruglyak, L. & Nickerson, D. A. Allele frequency matching between SNPs reveals an excess of linkage disequilibrium in genic regions of the human genome. PLoS Genet. 2, e142 (2006) · DOI
  26. Scheet, P. & Stephens, M. A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase. Am. J. Hum. Genet. 78, 629–644 (2006) · DOI
  27. Jakobsson, M. & Rosenberg, N. A. CLUMPP: a cluster matching and permutation program for dealing with label switching and multimodality in analysis of population structure. Bioinformatics 23, 1801–1806 (2007) · DOI
  28. Zhang, J., Feuk, L., Duggan, G. E., Khaja, R. & Scherer, S. W. Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome. Cytogenet. Genome Res. 115, 205–214 (2006) · DOI

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Metadata

Authors
Jakobsson, M., Scholz, S. W., Scheet, P., Gibbs, J. R., VanLiere, J. M., Fung, H.-C., Szpiech, Z. A., Degnan, J. H., Wang, K., Guerreiro, R., Bras, J. M., Schymick, J. C., Hernandez, D. G., Traynor, B. J., Simon-Sanchez, J., Matarin, M., Britton, A., van de Leemput, J., Rafferty, I., Bucan, M., Cann, H. M., Hardy, J. A., Rosenberg, N. A., & Singleton, A. B.
Venue
Nature
Publisher
Springer Science and Business Media LLC
Published
2008-02
Volume
451
Issue
7181
Pages
998-1003
ISSN
  • 0028-0836
  • 1476-4687
DOI
10.1038/nature06742
Cited by
714
References
2
Language
en
Licence
www.springer.com/tdm (tdm)

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