| Classification of pathogenic or benign status of CNVs detected by microarray analysis. | |
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MedLine Citation:
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PMID: 20843196 Owner: NLM Status: PubMed-not-MEDLINE |
Abstract/OtherAbstract:
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Multiple lines of evidence indicated that microarray analysis has a better diagnostic yield of clinically significant genetic changes than do conventional methods in patients with constitutional abnormalities. However, interpretation of microarray data is complicated by the presence of both novel and recurrent copy number variants (CNVs) of unknown significance. To address this issue, Hehir-Kwa et al. described a new computational method for determining the pathogenicity between benign and mental retardation (MR)-associated CNVs among patients with MR. This study demonstrated the value of objectively prioritizing MR-associated CNVs using structural and functional genomic features in diagnostics. In this regard, we discuss an evidence-based summary of how to classify pathogenic or benign status of a CNV in clinical genetics and advocate that there is a need for algorithmic adjustment between constitutional cytogenetic and prenatal diagnosis settings. |
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Authors:
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Tak Yeung Leung; Ritsuko K Pooh; Chi Chiu Wang; Tze Kin Lau; Kwong Wai Choy |
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Publication Detail:
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Type: Comment; Journal Article |
Journal Detail:
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Title: Expert review of molecular diagnostics Volume: 10 ISSN: 1744-8352 ISO Abbreviation: Expert Rev. Mol. Diagn. Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-09-16 Completed Date: 2010-12-21 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101120777 Medline TA: Expert Rev Mol Diagn Country: England |
Other Details:
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Languages: eng Pagination: 717-21 Citation Subset: - |
Affiliation:
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Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, NT, Hong Kong SAR. |
Export Citation:
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Descriptor/Qualifier:
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| Comments/Corrections | |
Comment On:
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PLoS Comput Biol. 2010 Apr;6(4):e1000752
[PMID:
20421931
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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