Case Definition Validation

Fillmore has investigated the impact of case definition accuracy on the validity of large-scale electronic health record research. His work demonstrates that broad diagnostic codes can lead to significant rates of false positives and erroneous genomic associations, whereas rule-based algorithms can improve the detection of complex clinical events such as hepatic immune-related adverse events. These studies emphasize the necessity of validated phenotypes to ensure the reliability of clinical and genetic findings in population-level datasets.