Lisa Bastarache

Lisa Bastarache's indexed work centers on phenome-wide association studies (PheWAS) and their application in biomedical research, particularly using electronic health records (EHRs). Their first-authored work includes a review on using Phecodes for research with EHRs, which details the progression from PheWAS to phenotype risk scores (216 citations), and another first-authored contribution to JAMA explaining phenome-wide association studies (159 citations). Further contributions include developing real-world evidence from real-world data by transforming raw data into analytical datasets, and improving the phenotype risk score for identifying patients with Mendelian disease. As a senior author, Bastarache also contributed to introducing phecodeX for enhanced discovery research in medical phenomics. Beyond these lead-authored contributions, Bastarache has played a role in foundational works in the field, including the seminal 2010 paper demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations (1327 citations). They also contributed to a 2013 Nature Biotechnology paper on the systematic comparison of phenome-wide association studies using EHR data and genome-wide association study data (1116 citations). This body of work consistently focuses on leveraging large-scale phenotypic and genomic data from EHRs to advance understanding of disease mechanisms and improve diagnostic approaches.