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1. Clark MM, Stark Z, Farnaes L, et al. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases. NPJ Genom Med. 2018;3:16. doi: 10.1038/s41525-018-0053-8

2. Sathirapongsasuti JF, Lee H, Horst BA, et al. Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV. Bioinformatics. 2011;27(19):2648-2654. doi: 10.1093/bioinformatics/btr462

3. Ellingford JM, Horn B, Campbell C, et al. Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases. J Med Genet. 2018;55(2):114-121. doi: 10.1136/jmedgenet-2017-104791

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For questions related to the Exome with CNV Evaluation test, please contact our Genomic Client Services team at 1.866.GENE.INFO (1.866.436.3463).