In the twenty years after the draft human genome was first released, the average sequencing cost per genome fell roughly one hundred thousand-fold, ending up just north of $500. In that same period, the cost to sequence a million letters or “megabase” of DNA fell to six tenths of a cent.2 This plummeting price is due largely to technological innovation, including new sequencing chemistries, computational methods for assembling raw reads into finished genomes, and highly efficient commercial sequencing machines.
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Dravet syndrome is a genetic disorder which causes treatment resistant epilepsy and is often accompanied by speech and developmental delays. About 3,000 people are thought to have the condition in the UK. Current treatments aim to control the number and severity of seizures, but often do not work.