A major goal in neuroscience is to understand how neuronal activity gives rise to behavior. With new technologies, it is possible to record the activity of thousands of neurons simultaneously. However, the interpretation of these data depends on a solid understanding of animal behavior.
Electronic Health Records (EHR) provide a rich integrated source of phenotypic information that allow for automated extraction and recognition of phenotypes from EHR narratives and provide an efficient framework for conducting epidemiological and clinical studies. In addition, when EHR are linked to genetic data in electronic biorepositories such as eMERGE and All of US, phenotype information embedded in EHR can be used to efficiently construct cohorts powered for genetic discoveries. However, limitations arise from repurposing data generated from healthcare processes for research, which can include data sparseness, low quality data and diagnostic errors. Phenotyping algorithms are developed to overcome these limitations providing a robust means to assess case status.
A major challenge to implementing precision medicine arises from patients who share a clinical diagnosis but have different biological causes of disease. Disease subtypes that arise from obscure etiological heterogeneity create inefficiencies in healthcare and attenuate power in clinical trials and research studies. The ability to stratify patients into biologically homogenous subgroups improves the potential for translational research by allowing us to design more powerful studies.