October 2020—According to a recent NPJ Genomic Medicine paper (Jezkova J, et al. 2020;5:28), Oxford Gene Technology’s CytoSure Constitutional v3 array design significantly improved reporting rate and proved to be a powerful tool for the detection of small pathogenic intragenic deletions and duplications in developmental disorder research. The paper was led by a consortium of National Health Service genomic medicine centers in the U.K.; it compared the enhanced exon-level gene coverage of the v3 array with a conventional array design.
The study consisted of a cohort of 27,756 patient samples that were investigated with either OGT’s exon targeted CytoSure Constitutional v3 array, based on up-to-date content from the Deciphering Developmental Disorders study and Clinical Genome Resource, or a conventional array design, based on content from the International Standards for Cytogenomic Arrays consortium with a large number of backbone probes and gene coverage based on an earlier version of developmental delay and intellectual disability databases.
The results demonstrated that the v3 array had a significant increase in reporting rate of 4.49 percent. The authors of the paper believe the findings of the research “will help to enable clinical researchers to assess optimal testing pathways when integrating genomics into labs.”
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