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Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing.
- Source :
-
Genomics data [Genom Data] 2014 Dec; Vol. 2, pp. 144-146. - Publication Year :
- 2014
-
Abstract
- Copy number variation (CNV) is a common source of genetic variation that has been implicated in many genomic disorders, Mendelian diseases, and common/complex traits. Genomic microarrays are often employed for CNV detection. More recently, whole-exome sequencing (WES) has enabled detection of clinically relevant point mutations and small insertion-deletion exome wide. We evaluated (de Ligt et al. 2013) [1] the utility of short-read WES (SOLiD 5500xl) to detect clinically relevant CNVs in DNA from 10 patients with intellectual disability and compared these results to data from three independent high-resolution microarray platforms. Calls made by the different platforms and detection software are available at dbVar under nstd84.
Details
- Language :
- English
- ISSN :
- 2213-5960
- Volume :
- 2
- Database :
- MEDLINE
- Journal :
- Genomics data
- Publication Type :
- Academic Journal
- Accession number :
- 26258046
- Full Text :
- https://doi.org/10.1016/j.gdata.2014.06.009