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

Joep de Ligt; Philip M. Boone; Rolph Pfundt; Lisenka E.L.M. Vissers; Nicole de Leeuw; Christine Shaw; Han G. Brunner; James R. Lupski; Joris A. Veltman; Jayne Y. Hehir-Kwa

doi:10.1016/j.gdata.2014.06.009

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

Joep de Ligt, Philip M. Boone, Rolph Pfundt, Lisenka E.L.M. Vissers, Nicole de Leeuw, Christine Shaw, Han G. Brunner, James R. Lupski, Joris A. Veltman, Jayne Y. Hehir-Kwa

Research output: Contribution to journal › Article › peer-review

12 Citations (Scopus)

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.

Original language	English
Pages (from-to)	144-146
Number of pages	3
Journal	Genomics Data
Volume	2
DOIs	https://doi.org/10.1016/j.gdata.2014.06.009
Publication status	Published - 2014
Externally published	Yes

Keywords

Copy number variation
Microarray
Whole exome sequencing

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10.1016/j.gdata.2014.06.009

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title = "Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing",

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.",

keywords = "Copy number variation, Microarray, Whole exome sequencing",

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year = "2014",

doi = "10.1016/j.gdata.2014.06.009",

language = "English",

volume = "2",

pages = "144--146",

journal = "Genomics Data",

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AU - de Ligt, Joep

AU - Boone, Philip M.

AU - Pfundt, Rolph

AU - Vissers, Lisenka E.L.M.

AU - de Leeuw, Nicole

AU - Shaw, Christine

AU - Brunner, Han G.

AU - Lupski, James R.

AU - Veltman, Joris A.

AU - Hehir-Kwa, Jayne Y.

PY - 2014

Y1 - 2014

N2 - 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.

AB - 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.

KW - Copy number variation

KW - Microarray

KW - Whole exome sequencing

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JO - Genomics Data

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

Abstract

Keywords

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