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

被引：11
|
作者：
de Ligt, Joep [1 ]
Boone, Philip M. [2 ]
Pfundt, Rolph [1 ]
Vissers, Lisenka E. L. M. [1 ]
de Leeuw, Nicole [1 ]
Shaw, Christine [2 ,3 ]
Brunner, Han G. [1 ]
Lupski, James R. [2 ,4 ,5 ]
Veltman, Joris A. [1 ,6 ]
Hehir-Kwa, Jayne Y. [1 ]
机构：
[1] Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Inst Genet & Metab Dis,Dept Human Genet, NL-6500 Nijmegen, Netherlands
[2] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[3] Roche NimbleGen, Madison, WI USA
[4] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA
[5] Texas Childrens Hosp, Houston, TX 77030 USA
[6] Maastricht Univ, Med Ctr, Dept Clin Genet, NL-6229 ER Maastricht, Netherlands
来源：
GENOMICS DATA | 2014年 / 2卷
关键词：
Copy number variation; Microarray; Whole exome sequencing;
D O I：
10.1016/j.gdata.2014.06.009
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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 shortread 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. (C) 2014 The Author. Published by Elsevier Inc. This is an open access article under the CC BY-NC-SA license.
引用
收藏
页码：144 / 146
页数：3
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