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U of Cambridge, Genomics England, Illumina to Sequence 10,000 Genomes from Rare Disease Patients

NEW YORK (GenomeWeb News) – The University of Cambridge, Genomics England, and Illumina plan to sequence 10,000 whole genomes of children and adults with rare genetic diseases over three years, the organizations said today.

Under the study, called the Rare Diseases Genomes Project, researchers at the University of Cambridge will work with a team at Illumina led by Chief Scientist David Bentley to develop a workflow and processes for bringing routine clinical whole-genome sequencing to patients. Illumina will contribute the sequencing data using its own technology.

Genomics England will provide 2,000 samples to the project, which represents one of two pilot projects the company has planned for the UK's 100K Genomes Project, which it administrates on behalf of the UK government, as previously reported by Clinical Sequencing News.

The other pilot project, a collaboration between Genomics England and Cancer Research UK, will sequence matched tumor/normal samples from 3,000 cancer patients.

Genomics England plans to establish several sequencing centers for the project in the UK, and is considering several different commercial sequencing providers to run them.

In the US, the National Institutes of Health have also been supporting rare disease genomic sequencing under the Mendelian Disorders Genome Centers Program, funding three centers at academic institutions over four years in late 2011.