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Updated: Apr 5, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing
Joep de Ligt1, Philip M Boone2, Rolph Pfundt1
1Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen 6500 HB, The Netherlands.
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.
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