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Články z ScienceDailyWhole exome sequencing identifies cause of metabolic disease

4. 2 2012 (00:26)

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.