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

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 clinic...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2014-12-01
Series:Genomics Data
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2213596014000427