Next-generation sequencing used to rapidly discover genetic cause of devastating disorder

Scientists have discovered a genetic mutation that causes Joubert Syndrome, a devastating inherited neurological disorder. They identified this mutation using whole exome sequencing -- a rapid "next-gen" sequencing approach that minimizes time and cost. The mutation, which causes a single nucleotide change in the TMEM216 gene, has a high carrier rate of 1:92 among Ashkenazi Jews.

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