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EHR data mining identifies undiagnosed genetic diseases

March 16, 2018


A new electronic health record data mining technique developed by researchers at Vanderbilt University Medical Center has found that undiagnosed genetic diseases may be more prevalent in the general population than previously assumed.

Researchers mapped the clinical features of more than 1,200 Mendelian diseases into phenotypes captured from the EHR and summarized this evidence as phenotype risk scores to find patterns of symptoms that may be caused by an underlying genetic variant.

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