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Whole exome sequencing identifies cause of metabolic disease

Sequencing a patient’s entire genome to discover the source of his or her disease is not routine, but geneticists are getting close. A case report shows how researchers can combine a simple blood test with an “executive summary” scan of the genome to diagnose a severe glycosylation disorder.

Quoted from Whole exome sequencing identifies cause of metabolic disease on ScienceDaily: Top News

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