July 27, 2020—In a recent NPJ Genomic Medicine paper (Jezkova J, et al. 2020;5:28), Oxford Gene Technology’s CytoSure Constitutional v3 array design has been shown to significantly improve reporting rate and been proven as a powerful tool for 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. and 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 developmental delay and intellectual disability databases.
“It’s wonderful to see this research confirm our superior design compared to more conventional arrays and that this importantly enables scientists to identify more relevant aberrations underlying developmental delay,” Emma Shipstone, executive VP of marketing, OGT, said in a press statement.