Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

• Published in: Genomics data Vol. 2; no. C; pp. 144 - 146
• Main Authors: de Ligt, Joep, Boone, Philip M., Pfundt, Rolph, Vissers, Lisenka E.L.M., de Leeuw, Nicole, Shaw, Christine, Brunner, Han G., Lupski, James R., Veltman, Joris A., Hehir-Kwa, Jayne Y.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.12.2014; Elsevier
• Subjects: computer software; Copy number variation; Data in Brief; DNA; genetic variation; Microarray; microarray technology; patients; point mutation; Whole exome sequencing; Microarray; Whole exome sequencing; Copy number variation
• ISSN: 2213-5960; 2213-5960
• DOI: 10.1016/j.gdata.2014.06.009

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.