Common deletions and SNPs are in linkage disequilibrium in the human genome (original) (raw)

• Tuzun, E. et al. Fine-scale structural variation of the human genome. Nat. Genet. 37, 727–732 (2005).
  Article CAS Google Scholar
• Sharp, A.J. et al. Segmental duplications and copy-number variation in the human genome. Am. J. Hum. Genet. 77, 78–88 (2005).
  Article CAS Google Scholar
• Stefansson, H. et al. A common inversion under selection in Europeans. Nat. Genet. 37, 129–137 (2005).
  Article CAS Google Scholar
• Singleton, A.B. et al. α-Synuclein locus triplication causes Parkinson's disease. Science 302, 841 (2003).
  Article CAS Google Scholar
• Sebat, J. et al. Large-scale copy number polymorphism in the human genome. Science 305, 525–528 (2004).
  Article CAS Google Scholar
• Iafrate, A.J. et al. Detection of large-scale variation in the human genome. Nat. Genet. 36, 949–951 (2004).
  Article CAS Google Scholar
• Gonzalez, E. et al. The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 307, 1434–1440 (2005).
  Article CAS Google Scholar
• Dhami, P. et al. Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome. Am. J. Hum. Genet. 76, 750–762 (2005).
  Article CAS Google Scholar
• Cargill, M. et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat. Genet. 22, 231–238 (1999).
  Article CAS Google Scholar
• Halushka, M.K. et al. Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat. Genet. 22, 239–247 (1999).
  Article CAS Google Scholar
• Wang, D.G. et al. Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science 280, 1077–1082 (1998).
  Article CAS Google Scholar
• Bhangale, T.R., Rieder, M.J., Livingston, R.J. & Nickerson, D.A. Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes. Hum. Mol. Genet. 14, 59–69 (2005).
  Article CAS Google Scholar
• Burn, J., Wilson, D. & Cross, I. The clinical significance of 22q11.2 deletion. in Developmental Mechanisms of Heart Disease (eds. Clark, E.B., Markwald, R.R. & Takao, A.) 559–567 (Futura, New York, 1995).
  Google Scholar
• Goodship, J., Cross, I., Liling, J. & Wren, C. A population study of chromosome 22q11 deletions in infancy. Arch. Dis. Child. 79, 348–351 (1998).
  Article CAS Google Scholar
• Liling, J. et al. Frequency and predictive value of 22q11 deletion. J. Med. Genet. 36, 794–795 (1999).
  Article CAS Google Scholar
• Tezenas Du Montcel, S., Mendizabai, H., Ayme, S., Levy, A. & Philip, N. Prevalence of 22q11 microdeletion. J. Med. Genet. 33, 719 (1996).
  Article CAS Google Scholar
• Higgs, D.R., Old, J.M., Pressley, L., Clegg, J.B. & Weatherall, D.J. A novel α-globin gene arrangement in man. Nature 284, 632–635 (1980).
  Article CAS Google Scholar
• Lauer, J., Shen, C.K. & Maniatis, T. The chromosomal arrangement of human α-like globin genes: sequence homology and α-globin gene deletions. Cell 20, 119–130 (1980).
  Article CAS Google Scholar
• Greenberg, F. Williams syndrome professional symposium. Am. J. Med. Genet. 6 (Suppl.), 85–88 (1990).
  Google Scholar
• Nelis, E. et al. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur. J. Hum. Genet. 4, 25–33 (1996).
  Article CAS Google Scholar
• Inoue, K. & Lupski, J.R. Molecular mechanisms for genomic disorders. Annu. Rev. Genomics Hum. Genet. 3, 199–242 (2002).
  Article CAS Google Scholar
• Conrad, D.F., Andrews, T.D., Carter, N.P., Hurles, M.E. & Pritchard, J.K. A high-resolution survey of deletion polymorphism in the human genome. Nat. Genet., advance online publication 4 December 2005 (10.1038/ng1697).
• McCarroll, S.A. et al. Common deletion polymorphisms in the human genome. Nat. Genet., advance online publication 4 December 2005 (10.1038/ng1696).
• Collins, F.S., Brooks, L.D. & Chakravarti, A.A. DNA polymorphism discovery resource for research on human genetic variation. Genome Res. 8, 1229–1231 (1998).
  Article CAS Google Scholar
• Patil, N. et al. Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science 294, 1719–1723 (2001).
  Article CAS Google Scholar
• Frazer, K.A. et al. Genomic DNA insertions and deletions occur frequently between humans and nonhuman primates. Genome Res. 13, 341–346 (2003).
  Article CAS Google Scholar
• Bailey, J.A. et al. Recent segmental duplications in the human genome. Science 297, 1003–1007 (2002).
  Article CAS Google Scholar
• Hinds, D.A. et al. Whole-genome patterns of common DNA variation in three human populations. Science 307, 1072–1079 (2005).
  Article CAS Google Scholar
• Shaw, C.J. & Lupski, J.R. Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum. Mol. Genet. 13, R57–64 (2004).
  Article CAS Google Scholar
• Weir, B.S. Genetic Data Analysis II (Sinauer, Sunderland, Massachusetts, 1996).
  Google Scholar