The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.
Structural variants: changing the landscape of chromosomes and design of disease studies
Abstract
The near completeness of human chromosome sequences is facilitating accurate characterization and assessment of all classes of genomic variation. Particularly, using the DNA reference sequence as a guide, genome scanning technologies, such as microarray-based comparative genomic hybridization (array CGH) and genome-wide single nucleotide polymorphism (SNP) platforms, have now enabled the detection of a previously unrecognized degree of larger-sized (non-SNP) variability in all genomes. This heterogeneity can include copy number variations (CNVs), inversions, insertions, deletions and other complex rearrangements, most of which are not detected by standard cytogenetics or DNA sequencing. Although these genomic alterations (collectively termed structural variants or polymorphisms) have been described previously, mainly through locus-specific studies, they are now known to be more global in occurrence. Moreover, as just one example, CNVs can contain entire genes and their number can correlate with the level of gene expression. It is also plausible that structural variants may commonly influence nearby genes through chromosomal positional or domain effects. Here, we discuss what is known of the prevalence of structural variants in the human genome and how they might influence phenotype, including the continuum of etiologic events underlying monogenic to complex diseases. Particularly, we highlight the newest studies and some classic examples of how structural variants might have adverse genetic consequences. We also discuss why analysis of structural variants should become a vital step in any genetic study going forward. All these progresses have set the stage for a golden era of combined microscopic and sub-microscopic (cytogenomic)-based research of chromosomes leading to a more complete understanding of the human genome.
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Cites
The International HapMap Project
†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature · doi:10.1038/nature02168 · Cited by 6,057
A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma
Friend, S. H., Bernards, R., Rogelj, S., Weinberg, R. A., Rapaport, J. M., Albert, D. M., & Dryja, T. P. (1986) · Nature · doi:10.1038/323643a0 · Cited by 2,948
Detection of large-scale variation in the human genome
Iafrate, A. J., Feuk, L., Rivera, M. N., Listewnik, M. L., Donahoe, P. K., Qi, Y., Scherer, S. W., & Lee, C. (2004) · Nature Genetics · doi:10.1038/ng1416 · Cited by 2,892
Self-citationMutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
Study, P. A. R. I. S., Jamain, S., Quach, H., Betancur, C., Råstam, M., Colineaux, C., Gillberg, I. C., Soderstrom, H., Giros, B., Leboyer, M., et al. (2003) · Nature Genetics · doi:10.1038/ng1136 · Cited by 1,851
Royer-Pokora, B., Kunkel, L. M., Monaco, A. P., Goff, S. C., Newburger, P. E., Baehner, R. L., Cole, F. S., Curnutte, J. T., & Orkin, S. H. (1986) · Nature · doi:10.1038/322032a0 · Cited by 833
Common deletion polymorphisms in the human genome
McCarroll, S. A., Hadnott, T. N., Perry, G. H., Sabeti, P. C., Zody, M. C., Barrett, J. C., Dallaire, S., Gabriel, S. B., Lee, C., Daly, M. J., et al. (2006) · Nature Genetics · doi:10.1038/ng1696 · Cited by 701
Common deletions and SNPs are in linkage disequilibrium in the human genome
Hinds, D. A., Kloek, A. P., Jen, M., Chen, X., & Frazer, K. A. (2006) · Nature Genetics · doi:10.1038/ng1695 · Cited by 372
A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome
Osborne, L. R., Li, M., Pober, B., Chitayat, D., Bodurtha, J., Mandel, A., Costa, T., Grebe, T., Cox, S., Tsui, L.-C., et al. (2001) · Nature Genetics · doi:10.1038/ng753 · Cited by 344
Self-citationPosition-effect variegation and the genetic dissection of chromatin regulation in Drosophila
Schotta, G., Ebert, A., Dorn, R., & Reuter, G. (2003) · Seminars in Cell & Developmental Biology · doi:10.1016/s1084-9521(02)00138-6 · Cited by 213
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Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., Church, D. M., Crolla, J. A., Eichler, E. E., Epstein, C. J., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.006 · Cited by 2,882
Self-citationThe Diploid Genome Sequence of an Individual Human
Levy, S., Sutton, G., Ng, P. C., Feuk, L., Halpern, A. L., Walenz, B. P., Axelrod, N., Huang, J., Kirkness, E. F., Denisov, G., et al. (2007) · PLoS Biology · doi:10.1371/journal.pbio.0050254 · Cited by 1,778
Self-citationA HapMap harvest of insights into the genetics of common disease
Manolio, T. A., Brooks, L. D., & Collins, F. S. (2008) · Journal of Clinical Investigation · doi:10.1172/jci34772 · Cited by 889
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Moessner, R., Marshall, C. R., Sutcliffe, J. S., Skaug, J., Pinto, D., Vincent, J., Zwaigenbaum, L., Fernandez, B., Roberts, W., Szatmari, P., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/522590 · Cited by 681
Self-citationYang, T., Liu, R., Luo, Y., Hu, S., Wang, D., Wang, C., Pandey, M. K., Ge, S., Xu, Q., Li, N., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01172-2 · Cited by 191
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Kahvejian, A., Quackenbush, J., & Thompson, J. F. (2008) · Nature Biotechnology · doi:10.1038/nbt1494 · Cited by 189
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DeRijk, R. H. (2009) · NeuroImmunoModulation · doi:10.1159/000216192 · Cited by 140
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Murthy, S. K., Nygren, A. O. H., El Shakankiry, H. M., Schouten, J. P., Al Khayat, A. I., Ridha, A., & Al Ali, M. T. (2007) · Cytogenetic and Genome Research · doi:10.1159/000097433 · Cited by 79
Sønderby, I. E., Ching, C. R. K., Thomopoulos, S. I., van der Meer, D., Sun, D., Villalon‐Reina, J. E., Agartz, I., Amunts, K., Arango, C., Armstrong, N. J., et al. (2022) · Human Brain Mapping · doi:10.1002/hbm.25354 · Cited by 67
Extreme context specificity in differential allelic expression
Wilkins, J. M., Southam, L., Price, A. J., Mustafa, Z., Carr, A., & Loughlin, J. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddl488 · Cited by 53
Metadata
- Authors
- Feuk, L., Marshall, C. R., Wintle, R. F., & Scherer, S. W.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2006-04-15
- Volume
- 15
- Issue
- suppl_1
- Pages
- R57-R66
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2119017402
- Cited by
- 286
- References
- 9
- FWCI
- 19.79
- Type
- journal article
- Language
- en
- Open access
- closed
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