The presentation entitled “About inherited pathogenic and de novo benign CNVs”, will discuss the use of aCGH to deliver new insights into the association between copy number variation and a range of developmental disorders. Some of the data to be presented was obtained using a unique custom microarray that combines OGT’s CytoSure™ ISCA 8x60k and CytoSure Syndrome Plus v2 2x105k arrays into a 4x180k format. This design facilitates data sharing between ISCA consortium members and the comparison of new data with legacy data.
Additional data generated using this array was presented at the recent European Society of Human Genetics (ESHG) Meeting in Amsterdam by Paul Brady, a PhD student in Professor Vermeesch’s lab. This presentation entitled “The use of array CGH for prenatal diagnosis of foetuses with congenital malformations detected by ultrasound” is available to download on the OGT website.
The new combined array is just one tool developed as part of the successful ongoing relationship between OGT and the Katholieke Universiteit Leuven. Researchers at the University have also recently utilised OGT CytoSure custom designed arrays, CytoSure DNA Labelling Kits and class-leading CytoSure Interpret Software to identify genomic imbalances associated with congenital diaphragmatic hernia (CDH), with the work subsequently published in the journal Prenatal Diagnosis. In addition, studies conducted at the University were instrumental in the development of the CytoSure Aneuploidy array, which allows simple, reliable and cost-effective detection of whole chromosomal imbalances in miscarriage samples.
Such examples excellently illustrate how the collaborations formed between OGT and world-class academic institutes are leading to the development of superior tools for use in cytogenetic research. Professor Joris Vermeesch commented: “The complex nature of our work requires a high level of accuracy combined with in-built flexibility. Working with OGT provides both, allowing us to optimise our aCGH design and workflow to generate the best results possible from each individual study.”