Interpretation of array comparative genome hybridization data: a major challenge.
Details
Serval ID
serval:BIB_2FAB3C5D5A25
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Interpretation of array comparative genome hybridization data: a major challenge.
Journal
Cytogenetic and Genome Research
ISSN
1424-859X (Electronic)
ISSN-L
1424-8581
Publication state
Published
Issued date
2011
Peer-reviewed
Oui
Volume
135
Number
3-4
Pages
222-227
Language
english
Notes
Publication types: Journal Article ; Review
Abstract
The advent and application of high-resolution array-based comparative genome hybridization (array CGH) has led to the detection of large numbers of copy number variants (CNVs) in patients with developmental delay and/or multiple congenital anomalies as well as in healthy individuals. The notion that CNVs are also abundantly present in the normal population challenges the interpretation of the clinical significance of detected CNVs in patients. In this review we will illustrate a general clinical workflow based on our own experience that can be used in routine diagnostics for the interpretation of CNVs.
Keywords
Chromosome Deletion, Chromosome Duplication, Comparative Genomic Hybridization/methods, Congenital Abnormalities/genetics, DNA Copy Number Variations, Data Interpretation, Statistical, Developmental Disabilities/genetics, Humans
Pubmed
Web of science
Create date
01/04/2012 15:38
Last modification date
20/08/2019 14:14
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