OXFORD GENE TECHNOLOGY SUCCESSFULLY COMPLETES WORLD’S LARGEST COPY NUMBER VARIATION STUDY
Oxford, UK, May 21, 2009 – Oxford Gene Technology (OGT), the pioneer of microarraybased
technologies, 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 leading 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. 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.”
“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.

