A high-resolution survey of deletion polymorphism in the human genome

Nature Genetics

Volumn 38, Issue 1, 2006, Pages 75-81

  Conrad, Donald F ^a   Andrews, T Daniel ^b   Carter, Nigel P ^b   Hurles, Matthew E ^b   Pritchard, Jonathan K ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; DNA MICROARRAY; GENE DELETION; GENE MAPPING; GENE SEQUENCE; GENETIC POLYMORPHISM; GENOME; GENOMICS; HEMIZYGOSITY; HUMAN; PREDICTION; PRIORITY JOURNAL; VALIDATION PROCESS;

DATABASES, GENETIC; GENOME, HUMAN; HUMANS; IN SITU HYBRIDIZATION; INTERNATIONAL COOPERATION; MICROARRAY ANALYSIS; MODELS, GENETIC; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCIBILITY OF RESULTS; SEQUENCE DELETION;

EID: 29444441336     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1697     Document Type: Article

References (24)

1. Sebat, J. et al. Large-scale copy number polymorphism in the human genome. Science 305, 525-528 (2004).
2. Iafrate, A.J. et al. Detection of large-scale variation in the human genome. Nat. Genet. 36, 949-951 (2004).
3. Tuzun, E. et al. Fine-scale structural variation of the human genome. Nat. Genet. 37, 727-732 (2005).
4. Sharp, A.J. et al. Segmental duplications and copy-number variation in the human genome. Am. J. Hum. Genet. 77, 78-88 (2005).
5. The International HapMap Consortium. The International HapMap Project. Nature 426, 789-796 (2003).
6. Schmickel, R.D. Contiguous gene syndromes: a component of recognizable syndromes. J. Pediatr. 109, 231-241 (1986).
7. Chen, K.S. et al. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat. Genet. 17, 154-163 (1997).
8. Flint, J. et al. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat. Genet. 9, 132-140 (1995).
9. Gardner, R.J. & Sutherland, G.R. Chromosomes Abnormalities and Genetic Counseling (Oxford Univ. Press, Oxford, 2004).
10. Yu, C.E. et al. Presence of large deletions in kindreds with autism. Am. J. Hum. Genet. 71, 100-115 (2002).
11. Petrov, D.A. Mutational equilibrium model of genome size evolution. Theor. Popul. Biol. 61, 531-544 (2002).
12. Olson, M.V. When less is more: gene loss as an engine of evolutionary change. Am. J. Hum. Genet. 64, 18-23 (1999).
13. Amos, C.I., Shete, S., Chen, J. & Yu, R.K. Positional identification of microdeletions with genetic markers. Hum. Hered. 56, 107-118 (2003).
14. Giglio, S. et al. Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am. J. Hum. Genet. 68, 874-883 (2001).
15. Weber, J.L et al. Human diallelic insertion/deletion polymorphisms. Am. J. Hum. Genet. 71, 854-862 (2002).
16. 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).
17. Carter, N.P. As normal as normal can be? Nat. Genet. 36, 931-932 (2004).
18. Bailey, J.A. et al. Recent segmental duplications in the human genome. Science 297, 1003-1007 (2002).
19. Clark, A.G. et al. Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios. Science 302, 1960-1963 (2003).
20. Emes, R.D., Goodstadt, L., Winter, E.E. & Ponting, C.P. Comparison of the genomes of human and mouse lays the foundation of genome zoology. Hum. Mol. Genet. 12, 701-709 (2003).
21. Hinds, D.A., Kloek, A.P. & Frazer, K.A. Common deletions and SNPs are in linkage disequilibrium in the human genome. Nat. Genet. Advance online publication, 4 December 2005 (doi:10.1038/ng1695).
22. McCarroll, S.A. et al. Common deletion polymorphisms in the human genome. Nat. Genet. Advance online publication, 4 December 2005 (doi:10.1038/ng1696).
23. Fredman, D. et al. Complex SNP-related sequence variation in segmental genome duplications. Nat. Genet. 36, 861-866 (2004).
24. Selzer, R.R. et al. Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH. Genes Chromosom. Cancer 44, 305-319 (2005).