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Illumina and University of Oxford to Sequence 500 Human Genomes to Inform Diagnosis, Treatment

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Illumina and researchers at the University of Oxford will jointly sequence 500 human genomes from patients with a variety of diseases in order to help with their diagnosis and treatment, the company said this week.

The project will involve more than 100 diseases and focus primarily on cancer, immunological disorders, and rare Mendelian diseases, all involving genetic mutations that would be difficult to discover using standard genetic tests. The researchers solicited suitable cases that might benefit from whole-genome sequencing from the Oxford clinical community.

Researchers at the Wellcome Trust Centre for Human Genetics in Oxford will sequence 400 genomes on the Illumina HiSeq 2000 platform, while Illumina will sequence 100 genomes at its Little Chesterford site near Cambridge, UK.

The partners have already sequenced the genome of a four-year-old girl who suffers from a life-threatening cranial developmental defect, as well as the genomes of family members, and said that they have identified mutations that will enable them to diagnose the disorder, help them evaluate treatment options, and provide genetic counseling to the family.

"This case demonstrates the great potential of next-generation sequencing technology to elucidate the underlying genetic disorders that are difficult to diagnose," said Peter Donnelly, director of the Wellcome Trust Centre for Human Genetics, in a statement.

The partnership is the second large-scale human genome sequencing agreement in the UK that Illumina has signed in recent weeks. Last week, the company said that Cancer Research UK had selected it to sequence up to 1,500 tumor and normal genomes as part of its contribution to the International Cancer Genome Consortium (CSN 7/27/2011).

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