Journal article
Accurate distinction of pathogenic from benign CNVs in mental retardation.
- Abstract:
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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
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(Version of record, pdf, 216.3KB)
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- Publisher copy:
- 10.1371/journal.pcbi.1000752
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Authors
Funding
Netherlands Organization for Health Research and Development
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Bibliographic Details
- Publisher:
- Public Library of Science Publisher's website
- Journal:
- PLoS computational biology Journal website
- Volume:
- 6
- Issue:
- 4
- Article number:
- e1000752
- Publication date:
- 2010-04-01
- DOI:
- EISSN:
-
1553-7358
- ISSN:
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1553-734X
- Source identifiers:
-
239359
Item Description
- Language:
- English
- Keywords:
- UUID:
-
uuid:9a73387c-0026-4aae-9c1f-afff33e1d83a
- Local pid:
- pubs:239359
- Deposit date:
- 2012-12-19
Terms of use
- Copyright holder:
- Hehir-Kwa et al
- Copyright date:
- 2010
- Notes:
- Copyright 2010 Hehir-Kwa et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
- Licence:
- CC Attribution (CC BY)
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