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Accurate distinction of pathogenic from benign CNVs in mental retardation.

Abstract:

Copy number variants (CNVs) have recently been recognized as a common form of genomic variation in humans. Hundreds of CNVs can be detected in any individual genome using genomic microarrays or whole genome sequencing technology, but their phenotypic consequences are still poorly understood. Rare CNVs have been reported as a frequent cause of neurological disorders such as mental retardation (MR), schizophrenia and autism, prompting widespread implementation of CNV screening in diagnostics. I...

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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.pcbi.1000752

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Institution:
University of Oxford
Department:
Oxford, MSD, Physiology Anatomy and Genetics
Role:
Author
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Funding agency for:
Ponting, CP
Netherlands Organization for Health Research and Development More from this funder
Publisher:
Public Library of Science Publisher's website
Journal:
PLoS computational biology Journal website
Volume:
6
Issue:
4
Pages:
Article: e1000752
Publication date:
2010-04-05
DOI:
EISSN:
1553-7358
ISSN:
1553-734X
URN:
uuid:9a73387c-0026-4aae-9c1f-afff33e1d83a
Source identifiers:
239359
Local pid:
pubs:239359

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