Author(s): Bertoli-Avella, Aida M., MD
By performing deep genetic analyses and Bio/Databank mining, CENTOGENE discovered six novel gene-disease associations and evidence supporting 31 candidate genes – ultimately diagnosing over 90 patients. The findings were published in the prestigious journal Genetics in Medicine.
While technology has advanced over the past ten years, more than half of patients with genetic diseases remain undiagnosed, even after applying genome-wide diagnostic approaches. By performing deep genetic analyses and Bio/Databank mining, CENTOGENE discovered six novel gene-disease associations and evidence supporting 31 candidate genes – ultimately diagnosing over 90 patients. The findings were published in the prestigious journal Genetics in Medicine.
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