Science 359, 1233–1239 (2018).

Cell 173, 1–13 (2018).

Electronic medical records contain a wealth of information that can be analyzed to provide insight into disease and disease genetics.

A team from Vanderbilt University mined the electronic medical records of individuals admitted to the university’s medical center to develop a score for the aggregate phenotypic features that occur in individuals with Mendelian disease. Applying this knowledge to genotyped individuals affected with overlapping symptoms but undiagnosed disease allowed researchers to identify rare pathogenic mutations causing these diseases.

In another study at three New York–based hospitals, researchers linked family members in their records systems using the emergency contact information provided by patients, allowing the scientists to accurately trace genetic disease inheritance patterns.

Both studies illustrate the importance of maintaining electronic health records and providing researchers with access to them.