HiSeq 2000 system will be used to analyze mutations linked to 100-plus life-threatening diseases.

Clinicians and geneticists at the University of Oxford have decided to use Illumina’s HiSeq™ 2000 systems to sequence the whole genomes of 500 individuals afflicted with life-threatening diseases. The project will focus primarily on cancer, immunological disorders, and rare Mendelian diseases, all involving mutations difficult or impossible to discover through standard genetic tests.

“Our collaboration with Illumina, studying over a hundred different diseases, will allow us to explore the value of whole-genome sequencing in clinical medicine in informing diagnosis and treatment decisions for patients,” states Peter Donnelly, director of the Wellcome Trust Centre for Human Genetics at the University of Oxford.

Illumina will sequence 100 genomes at its Chesterford site in the U.K., while the remaining 400 genomes will be sequenced using HiSeq 2000 systems at the Wellcome Trust Centre for Human Genetics. Introduced to the market in January 2010, Illumina’s high-throughput HiSeq 2000 reportely offers a five-fold improvement in throughput over second-generation sequencing technologies.

Already, information obtained by sequencing a family’s whole genomes has revealed a genetic mutation believed responsible for a life-threatening cranial developmental defect in a four-year-old girl. According to Illumina, Oxford clinicians have used the whole-genome sequence information to identify mutations that, when validated, enable them to properly diagnose the disorder, evaluate potential healthcare options, and provide her family with genetic counseling.

As a prelude to the sequencing effort, the Oxford team solicited cases from the university’s clinical community to learn about the range of patients and diseases most likely to benefit directly from whole-genome sequencing.

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