Large-Scale Copy Number Polymorphism in the Human Genome-Reference-Cited by-全球学者库

Large-Scale Copy Number Polymorphism in the Human Genome

Published:2004-07-23 Issue:5683 Volume:305 Page:525-528
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Sebat Jonathan¹²³⁴⁵,Lakshmi B.¹²³⁴⁵,Troge Jennifer¹²³⁴⁵,Alexander Joan¹²³⁴⁵,Young Janet¹²³⁴⁵,Lundin Pär¹²³⁴⁵,Månér Susanne¹²³⁴⁵,Massa Hillary¹²³⁴⁵,Walker Megan¹²³⁴⁵,Chi Maoyen¹²³⁴⁵,Navin Nicholas¹²³⁴⁵,Lucito Robert¹²³⁴⁵,Healy John¹²³⁴⁵,Hicks James¹²³⁴⁵,Ye Kenny¹²³⁴⁵,Reiner Andrew¹²³⁴⁵,Gilliam T. Conrad¹²³⁴⁵,Trask Barbara¹²³⁴⁵,Patterson Nick¹²³⁴⁵,Zetterberg Anders¹²³⁴⁵,Wigler Michael¹²³⁴⁵

Affiliation:

1. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA.

2. Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.

3. Karolinska Institute, Stockholm SE-17176, Sweden.

4. Department of Applied Mathematics and Statistics, Stony Brook University, Stony Brook, NY 11794, USA.

5. Columbia Genome Center, Columbia University, New York, NY 10032, USA.

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.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference29 articles.

1. D. P. Lockeet al., Genome Res.13, 347 (2003).

2. K. A. Frazeret al., Genome Res.13, 341 (2003).

3. Analysis of Primate Genomic Variation Reveals a Repeat-Driven Expansion of the Human Genome

4. P. R. Buckland, Ann. Med.35, 308 (2003).

5. Representational Oligonucleotide Microarray Analysis: A High-Resolution Method to Detect Genome Copy Number Variation

Cited by 2049 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Association analysis of the sorting nexin 29 (SNX29) gene copy number variations with growth traits in Diannan small-ear (DSE) pigs;Animal Biotechnology;2024-02-05

2. Long-insert sequence capture detects high copy numbers in a defence-related beta-glucosidase gene βglu-1 with large variations in white spruce but not Norway spruce;BMC Genomics;2024-01-27

3. Advancements in copy number variation screening in herbivorous livestock genomes and their association with phenotypic traits;Frontiers in Veterinary Science;2024-01-11

4. The power of whole genomic sequencing in biomedical research and clinical applications;Comprehensive Precision Medicine;2024

5. A 25-year odyssey of genomic technology advances and structural variant discovery;Cell;2024-01