Large-scale copy number polymorphism in the human genome - PubMed (original) (raw)
. 2004 Jul 23;305(5683):525-8.
doi: 10.1126/science.1098918.
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
Affiliations
- PMID: 15273396
- DOI: 10.1126/science.1098918
Free article
Large-scale copy number polymorphism in the human genome
Jonathan Sebat et al. Science. 2004.
Free article
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.
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