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| Large-scale copy number polymorphism in the human genome |
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| Author(s): Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Maner S, Massa H, Walker M, Chi MY, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, Zetterberg A, Wigler M |
| Source: SCIENCE Volume: 305 Issue: 5683 Pages: 525-528 Published: JUL 23 2004 |
| Times Cited: 821 References: 25 |
| 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 oligonucleotide 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 kilobases. 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. |
| Document Type: Article |
| Language: English |
| Reprint Address: Wigler, M (reprint author), Cold Spring Harbor Lab, POB 100, Cold Spring Harbor, NY 11724 USA |
Addresses:
1. Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA
2. Fred Hutchinson Canc Res Ctr, Div Human Biol, Seattle, WA 98109 USA
3. Karolinska Inst, SE-17176 Stockholm, Sweden
4. SUNY Stony Brook, Dept Appl Math & Stat, Stony Brook, NY 11794 USA
5. Columbia Univ, Columbia Genome Ctr, New York, NY 10032 USA
6. Broad Inst, Cambridge, MA 02139 USA |
| Publisher: AMER ASSOC ADVANCEMENT SCIENCE, 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 USA |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: 840AH |
| ISSN: 0036-8075 |
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