Genome study offers new hope for children with rare diseases

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An international team involving University of Queensland researchers has used advanced genome sequencing to diagnose 30 patients with unresolved rare diseases.

The patients were among 70 people with disorders of the brain’s and were examined using whole exome sequencing (WES)—a method that looks at all the genes in a person’s genetic code at once.

http://medicalxpress.com/news/2016-05-genome-children-rare-diseases.html

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