3/19/2018
Pixabay

Vanderbilt University Medical Center researchers created an EHR data mining technique to detect undiagnosed genetic diseases, according to a study published in the journal Science. Researchers applied phenotype risk scores to almost 22,000 genotyped patients and found a correlation between rare genetic variants and severe outcomes including organ transplants in 16 patients, and 18 ties between rare genetic variants and phenotypes consistent with Mendelian diseases.

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