Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.

doi:10.1038/gim.2016.163

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Article

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2017

Pfundt Rolph, Del Rosario Marisol, Vissers Lisenka E L M, Kwint Michael P, Janssen Irene M, de Leeuw Nicole, Yntema Helger G, Nelen Marcel R, Lugtenberg Dorien, Kamsteeg Erik-Jan, Wieskamp Nienke, Stegmann Alexander P A, Stevens Servi J C, Rodenburg Richard J T, Simons Annet, Mensenkamp Arjen R, Rinne Tuula, Gilissen Christian, Scheffer Hans, Veltman Joris A, Hehir-Kwa Jayne Y

Abstract excerpt

PURPOSE: Copy-number variation is a common source of genomic variation and an important genetic cause of disease. Microarray-based analysis of copy-number variants (CNVs) has become a first-tier diagnostic test for patients with neurodevelopmental disorders, with a diagnostic yield of 10-20%. However, for most other genetic disorders, the role of CNVs is less clear and most diagnostic genetic studies are...

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PMID: 28574513
DOI: 10.1038/gim.2016.163
PMCID: PMC5460076

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