Lisa Bastarache, MS

Lisa Bastarache is a research associate professor in Biomedical informatics. Her research focuses on using electronic health record (EHR) data to advance our understanding of human genetics and increase the diagnostic potential of clinical genetic testing. She has extensive experience developing EHR phenotyping methods that help uncover new and unexpected corelates with human disease, including the phenotype risk score (PheRS) – a high-throughput method that measures the similarity between an individual patient and clinical description of a Mendelian disease. Lisa is passionate about the potential of large datasets to learn more about genetic disease. She is currently working on methods to better interpret patients’ genetic test results and to shorten the diagnostic Odyssey of rare disease patients.