Large-scale copy number polymorphism in the human genome

Jonathan Sebat; B. Lakshmi; Jennifer Troge; Joan Alexander; Janet Young; Pär Lundin; Susanne Månér; Hillary Massa; Megan Walker; Maoyen Chi; Nicholas Navin; Robert Lucito; John Healy; James Hicks; Kenny Ye; Andrew Reiner; T. Conrad Gilliam; Barbara Trask; Nick Patterson; Anders Zetterberg; Michael Wigler

doi:10.1126/science.1098918

Large-scale copy number polymorphism in the human genome

Jonathan Sebat, B. Lakshmi, Jennifer Troge, Joan Alexander, Janet Young, Pär Lundin, Susanne Månér, Hillary Massa, Megan Walker, Maoyen Chi, Nicholas Navin, Robert Lucito, John Healy, James Hicks, Kenny Ye, Andrew Reiner, T. Conrad Gilliam, Barbara Trask, Nick Patterson, Anders ZetterbergMichael Wigler

Research output: Contribution to journal › Article › peer-review

2005 Scopus citations

Abstract

The extent to which large duplications and deletions contribute to human genetic variation and diversity is unknown. Here, we show that large-scale copy number polymorphisms (CNPs) (about 100 kilobases and greater) contribute substantially to genomic variation between normal humans. Representational oligonucteotide microarray analysis of 20 individuals revealed a total of 221 copy number differences representing 76 unique CNPs. On average, individuals differed by 11 CNPs and the average length of a CNP interval was 465 kitobases. We observed copy number variation of 70 different genes within CNP intervals, including genes involved in neurological function, regulation of cell growth, regulation of metabolism, and several genes known to be associated with disease.

Original language	English (US)
Pages (from-to)	525-528
Number of pages	4
Journal	Science
Volume	305
Issue number	5683
DOIs	https://doi.org/10.1126/science.1098918
State	Published - Jul 23 2004
Externally published	Yes

ASJC Scopus subject areas

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UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., Månér, S., Massa, H., Walker, M., Chi, M., Navin, N., Lucito, R., Healy, J., Hicks, J., Ye, K., Reiner, A., Gilliam, T. C., Trask, B., Patterson, N., ... Wigler, M. (2004). Large-scale copy number polymorphism in the human genome. Science, 305(5683), 525-528. https://doi.org/10.1126/science.1098918

Sebat, J, Lakshmi, B, Troge, J, Alexander, J, Young, J, Lundin, P, Månér, S, Massa, H, Walker, M, Chi, M, Navin, N, Lucito, R, Healy, J, Hicks, J, Ye, K, Reiner, A, Gilliam, TC, Trask, B, Patterson, N, Zetterberg, A & Wigler, M 2004, 'Large-scale copy number polymorphism in the human genome', Science, vol. 305, no. 5683, pp. 525-528. https://doi.org/10.1126/science.1098918

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abstract = "The extent to which large duplications and deletions contribute to human genetic variation and diversity is unknown. Here, we show that large-scale copy number polymorphisms (CNPs) (about 100 kilobases and greater) contribute substantially to genomic variation between normal humans. Representational oligonucteotide microarray analysis of 20 individuals revealed a total of 221 copy number differences representing 76 unique CNPs. On average, individuals differed by 11 CNPs and the average length of a CNP interval was 465 kitobases. We observed copy number variation of 70 different genes within CNP intervals, including genes involved in neurological function, regulation of cell growth, regulation of metabolism, and several genes known to be associated with disease.",

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AU - Sebat, Jonathan

AU - Lakshmi, B.

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AU - Månér, Susanne

AU - Massa, Hillary

AU - Walker, Megan

AU - Chi, Maoyen

AU - Navin, Nicholas

AU - Lucito, Robert

AU - Healy, John

AU - Hicks, James

AU - Ye, Kenny

AU - Reiner, Andrew

AU - Gilliam, T. Conrad

AU - Trask, Barbara

AU - Patterson, Nick

AU - Zetterberg, Anders

AU - Wigler, Michael

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AB - The extent to which large duplications and deletions contribute to human genetic variation and diversity is unknown. Here, we show that large-scale copy number polymorphisms (CNPs) (about 100 kilobases and greater) contribute substantially to genomic variation between normal humans. Representational oligonucteotide microarray analysis of 20 individuals revealed a total of 221 copy number differences representing 76 unique CNPs. On average, individuals differed by 11 CNPs and the average length of a CNP interval was 465 kitobases. We observed copy number variation of 70 different genes within CNP intervals, including genes involved in neurological function, regulation of cell growth, regulation of metabolism, and several genes known to be associated with disease.

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Large-scale copy number polymorphism in the human genome

Abstract

ASJC Scopus subject areas

UN SDGs

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