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Six Novel Gene-Disease Associations

Aida M. Bertoli-Avella, MD et al.
April 19, 2021

Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders

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