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Oxford Gene Technology Successfully Completes World’s Largest Copy Number Variation Study
News

Oxford Gene Technology Successfully Completes World’s Largest Copy Number Variation Study

Oxford Gene Technology Successfully Completes World’s Largest Copy Number Variation Study
News

Oxford Gene Technology Successfully Completes World’s Largest Copy Number Variation Study

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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), which is said to be the world’s largest CNV study involving a collaboration of 24 leading human geneticists.

The project analyzed 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 automated processing to achieve exceptional data quality from whole-genome human CNV-focussed microarrays developed by Agilent. Over 40 quality control checks have been performed and recorded for each sample during the workflow, producing documented evidence of the QC metrics that have been met.

"In order to characterize 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."

“OGT is delighted to have successfully processed the huge number of samples, on time and to exacting QC standards, in this landmark CNV study,” said Dr John Anson, R&D Director at OGT. OGT is committed to provide high quality data for a variety of high throughput microarray applications, offering a bespoke microarray service from array design and synthesis through to bioinformatics support and data analysis.

Agilent collaborated with the WTCCC and the Genome Structural Variation Consortium on the array design for this study, and Agilent manufactured the microarrays at its Santa Clara, California, fabrication facility.
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