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Bias of selection on human copy-number variants

Abstract:

Although large-scale copy-number variation is an important contributor to conspecific genomic diversity, whether these variants frequently contribute to human phenotype differences remains unknown. If they have few functional consequences, then copy-number variants (CNVs) might be expected both to be distributed uniformly throughout the human genome and to encode genes that are characteristic of the genome as a whole. We find that human CNVs are significantly overrepresented close to telomere...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1371/journal.pgen.0020020

Authors


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Institution:
University of Oxford
Department:
Medical Sciences Division - Human Anatomy and Genetics,Department of - MRC Functional Genetics Unit
More by this author
Institution:
University of Oxford
Department:
Medical Sciences Division - Human Anatomy and Genetics,Department of - MRC Functional Genetics Unit
More by this author
Institution:
University of Oxford
Department:
Medical Sciences Division - Human Anatomy and Genetics,Department of - MRC Functional Genetics Unit

Contributors

Institution:
Fred Hutchinson Cancer Research Center, USA
Role:
Editor
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Funding agency for:
Duc-Quang Nguyen
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Funding agency for:
Caleb Webber
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Funding agency for:
Chris P. Ponting
Publisher:
Public Library of Science Publisher's website
Journal:
PLoS Genetics Journal website
Volume:
2
Issue:
2
Pages:
Article: e20
Publication date:
2006-02-05
DOI:
EISSN:
1553-7404
ISSN:
1553-7390
URN:
uuid:efc9cd98-e433-423c-b626-f98e4a3aa54f
Local pid:
ora:988

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