Oxford Gene Technology successfully completes world's largest copy number variation study
Oxford Gene Technology (OGT) has successfully completed processing more than 20,000 samples that have been generated by the Wellcome Trust Case Control Consortium (WTCCC), the world’s largest CNV study involving a collaboration of 24 human geneticists. The project analysed DNA samples from patients to identify genetic variants that play a role in various human diseases, including bipolar disorder, Crohn’s disease, coronary artery disease, type 1 and 2 diabetes, rheumatoid arthritis, breast cancer and hypertension.
OGT processed over 20,000 samples in 20 weeks, using state-of-the-art automated processing to achieve exceptional data quality from whole-genome human CNV-focussed microarrays developed by Agilent. According to the company, over 40 quality control checks have been performed and recorded for each sample during the workflow, producing documented evidence of the excellent QC metrics that have been met.
"In order to characterise genetic variants, reproducible performance and reliable processing of the high resolution microarrays is essential. This project demanded high quality data generated to tight deadlines, and we were very pleased with its rapid progress," said Dr Matt Hurles of the Wellcome Trust Sanger Institute. "Our preliminary estimate is that approximately 20-30 % of the ~11,000 loci targeted on the array we have designed are both polymorphic in our British study population and provide sufficient data quality to assign integer copy numbers to individuals."
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