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

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1833 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 languageEnglish (US)
Pages (from-to)525-528
Number of pages4
JournalScience
Volume305
Issue number5683
DOIs
StatePublished - Jul 23 2004

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Cite this

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