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Oxford, Illumina to Sequence 500 Human Genomes

DNA fragment (Wikimedia Commons)

(Wikimedia Commons)

Oxford University in the U.K. and Illumina Inc. in San Diego will collaborate on a project to sequence the whole genomes of 500 people with a range of life-threatening diseases. The research will explore how whole-genome sequencing can improve diagnosis and treatment decisions for individual patients.

Illumina is a developer and manufacturer of genomic analysis tools, with one of those tools — its HiSeq 2000 systems — employed to generate sequencing data for the 500 genomes. The project will focus on cancer, immunological disorders, and rare Mendelian diseases, all involving mutations that would be difficult or impossible to discover by standard genetic tests.

Illumina plans to sequence 100 genomes at its Chesterford site in the U.K. The remaining 400 genomes will be sequenced using HiSeq 2000 systems at the Wellcome Trust Centre for Human Genetics in Oxford. Clinicians and geneticists at Oxford will analyze the data generated by the technology to identify mutations that may be validated, diagnose their diseases, and outline potential treatment options.

Illumina and Oxford already report a beneficial outcome for one family. Data from sequencing the genomes in the family revealed a new genetic mutation hypothesized to be responsible for a life-threatening cranial defect in a four-year-old girl. Oxford clinicians have been able to use the whole-genome sequence information to identify mutations that, when validated, will help them to properly diagnose the disorder, evaluate potential health care options, and provide the girl’s family with genetic counseling.

Read more: Kaiser Permanente, UCSF Complete DNA Data Gathering

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