Large-Scale Copy Number Polymorphism in the Human Genome

by: Jonathan Sebat, B Lakshmi, Jennifer Troge, Joan Alexander, Janet Young, Par Lundin, Susanne Maner, Hillary Massa, Megan Walker, Maoyen Chi, Nicholas Navin, Robert Lucito, John Healy, James Hicks, Kenny Ye, Andrew Reiner, Conrad C Gilliam, Barbara Trask, Nick Patterson, Anders Zetterberg, Michael Wigler

Science, Vol. 305, No. 5683. (23 July 2004), pp. 525-528.

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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 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.

@article{citeulike:108658, 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.}, author = {Sebat, Jonathan and Lakshmi, B. and Troge, Jennifer and Alexander, Joan and Young, Janet and Lundin, Par and Maner, Susanne and Massa, Hillary and Walker, Megan and Chi, Maoyen and Navin, Nicholas and Lucito, Robert and Healy, John and Hicks, James and Ye, Kenny and Reiner, Andrew and Gilliam, Conrad C. and Trask, Barbara and Patterson, Nick and Zetterberg, Anders and Wigler, Michael }, citeulike-article-id = {108658}, doi = {http://dx.doi.org/10.1126/science.1098918}, journal = {Science}, keywords = {genetics, genome-wide, microarray}, month = {July}, number = {5683}, pages = {525--528}, posted-at = {2005-03-01 18:53:49}, priority = {3}, title = {Large-Scale Copy Number Polymorphism in the Human Genome}, url = {http://dx.doi.org/10.1126/science.1098918}, volume = {305}, year = {2004} }

RIS record

TY - JOUR ID - citeulike:108658 L3 - citeulike-article-id:108658 TI - Large-Scale Copy Number Polymorphism in the Human Genome JF - Science VL - 305 IS - 5683 SP - 525 EP - 528 N2 - 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. KW - genetics KW - genome-wide KW - microarray AU - Sebat, Jonathan AU - Lakshmi, B AU - Troge, Jennifer AU - Alexander, Joan AU - Young, Janet AU - Lundin, Par AU - Maner, 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, Conrad AU - Trask, Barbara AU - Patterson, Nick AU - Zetterberg, Anders AU - Wigler, Michael PY - 2004/07/23/ UR - http://dx.doi.org/10.1126/science.1098918 ER -

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