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To develop scalable informatics infrastructure for normalization of both structured and unstructured electronic health record (EHR) data into a unified, concept-based model for high-throughput phenotype extraction.

Extracting comorbidity information is crucial for phenotypic studies because of the confounding effect of comorbidities. We developed an automated method that accurately determines comorbidities from electronic medical records. Using a modified version of the Charlson comorbidity index (CCI), two physicians created a reference standard of comorbidities by manual review of 100 admission notes. We processed the notes using the MedLEE natural language processing system, and wrote queries to extract comorbidities [...]

The clinical course of multiple sclerosis (MS) is highly variable, and research data collection is costly and time consuming. We evaluated natural language processing techniques applied to electronic medical records (EMR) to identify MS patients and the key clinical traits of their disease course.

This study compares the yield and characteristics of diabetes cohorts identified using heterogeneous phenotype definitions.

The burgeoning adoption of electronic health records (EHR) introduces a golden opportunity for studying individual manifestations of myriad diseases, which is called 'EHR phenotyping'. In this paper, we break down this concept by: relating it to phenotype definitions from Johannsen; comparing it to cohort identification and disease subtyping; introducing a new concept called 'verotype' (Latin: vere = true, actually) to represent the 'true' population of similar patients for treatment purposes through the [...]

To develop methods for visual analysis of temporal phenotype data available through electronic health records (EHR).

Large-scale biorepositories that couple biologic specimens with electronic health records containing documentation of phenotypic expression can accelerate scientific research and discovery. However, differences between those subjects who participate in biorepository-based research and the population from which they are drawn may influence research validity. While an opt-out approach to biorepository-based research enhances inclusiveness, empirical research evaluating voluntariness, risk, and the feasibility of an opt-out approach is sparse, and factors influencing patients' [...]

Many cancer interventional clinical trials are not completed because the required number of eligible patients are not enrolled.