PheWAS

New reference tool supports replication of DNA biobank studies

Vanderbilt researchers created a phenotype-genotype reference map to assess data quality in DNA biobanks.

PheWAS reveals post-COVID-19 diagnoses

Using a high-throughput informatics technique and electronic health records, Vanderbilt researchers found that COVID-19 survivors had an increased risk for more than 40 new diagnoses.

Studies combine genetic testing, electronic health records to find undiagnosed diseases

Combining genetic testing with information from electronic health records revealed undiagnosed heart rhythm disorders and new conditions associated with inherited cancer gene mutations.

Medical diagnoses in musicians

Vanderbilt researchers mined electronic health records to find medical diagnoses that are more or less prevalent among musicians, who are present in large numbers in “Music City.”

Computer-based study reveals impact of race on health

A computer-based method developed at Vanderbilt University Medical Center that scans electronic medical records (EMRs) for genetic contributors to disease has been used for the first time to reveal the impact of race on health.

By Bill Snyder

Lisa Bastarache, MS, Josh Denny, MD, MS, and colleagues are helping researchers study associations among de-identified genotype data and electronic health records data. (photo by John Russell)

February 7, 2019

PheWAS Core helps researchers make sense of electronic health record data

Some biomedical researchers may be unsure about routine electronic health record (EHR) data and how useful it ultimately may prove for drawing meaningful, actionable associations that warrant changes to clinical practice and lead to improved clinical outcomes.