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Detection of clinically relevant copy number variants with whole-exome sequencing.
- Source :
-
Human mutation [Hum Mutat] 2013 Oct; Vol. 34 (10), pp. 1439-48. Date of Electronic Publication: 2013 Aug 30. - Publication Year :
- 2013
-
Abstract
- Copy number variation (CNV) is a common source of genetic variation that has been implicated in many genomic disorders. This has resulted in the widespread application of genomic microarrays as a first-tier diagnostic tool for CNV detection. More recently, whole-exome sequencing (WES) has been proven successful for the detection of clinically relevant point mutations and small insertion-deletions exome wide. We evaluate the utility of short-read WES (SOLiD 5500xl) to detect clinically relevant CNVs in DNA from 10 patients with intellectual disability and compare these results to data from two independent high-resolution microarrays. Eleven of the 12 clinically relevant CNVs were detected via read-depth analysis of WES data; a heterozygous single-exon deletion remained undetected by all algorithms evaluated. Although the detection power of WES for small CNVs currently does not match that of high-resolution microarray platforms, we show that the majority (88%) of rare coding CNVs containing three or more exons are successfully identified by WES. These results show that the CNV detection resolution of WES is comparable to that of medium-resolution genomic microarrays commonly used as clinical assays. The combined detection of point mutations, indels, and CNVs makes WES a very attractive first-tier diagnostic test for genetically heterogeneous disorders.<br /> (© 2013 WILEY PERIODICALS, INC.)
Details
- Language :
- English
- ISSN :
- 1098-1004
- Volume :
- 34
- Issue :
- 10
- Database :
- MEDLINE
- Journal :
- Human mutation
- Publication Type :
- Academic Journal
- Accession number :
- 23893877
- Full Text :
- https://doi.org/10.1002/humu.22387