Study paves way for clinical genetic diagnosis

A pioneering program for diagnosing the genetic cause of rare developmental diseases in children has demonstrated the feasibility and value of introducing large-scale sequencing diagnostics. The study has now analyzed the first 1000 children from its 12,000-strong cohort, returning a genetic diagnosis for nearly a third of families.



from Today's Healthcare News -- ScienceDaily http://ift.tt/1AQfN50

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