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More than 10 years after the completion of the Human Genome Project doctors are a step closer to using whole genome sequencing to diagnose and treat patients with genetic diseases.

This follows a study by researchers from the University of Oxford and the DNA sequencing company Illumina. Results from this ‘WGS500’ study, published in Nature Genetics, showed that genome sequencing provided definitive diagnoses for up to 60% of patients with some types of genetic disorder, for whom standard genetic testing had previously failed.

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