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

Onderzoeksoutput: Bijdrage aan tijdschrift › Artikel › peer review

12 Citaten (Scopus)

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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.

Originele taal-2	Engels
Pagina's (van-tot)	144-146
Aantal pagina's	3
Tijdschrift	Genomics Data
Volume	2
DOI's	https://doi.org/10.1016/j.gdata.2014.06.009
Status	Gepubliceerd - 2014
Extern gepubliceerd	Ja

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10.1016/j.gdata.2014.06.009

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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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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.

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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.

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

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