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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.

In a growing interdisciplinary field like biomedical informatics, information dissemination and citation trends are changing rapidly due to many factors. To understand these factors better, we analyzed the evolution of the number of articles per major biomedical informatics topic, download/online view frequencies, and citation patterns (using Web of Science) for articles published from 2009 to 2012 in JAMIA. The number of articles published in JAMIA increased significantly from 2009 to [...]

Generalizable, high-throughput phenotyping methods based on supervised machine learning (ML) algorithms could significantly accelerate the use of electronic health records data for clinical and translational research. However, they often require large numbers of annotated samples, which are costly and time-consuming to review. We investigated the use of active learning (AL) in ML-based phenotyping algorithms.

Celiac disease (CD) is a lifelong immune-mediated disease with excess mortality. Early diagnosis is important to minimize disease symptoms, complications, and consumption of healthcare resources. Most patients remain undiagnosed. We developed two electronic medical record (EMR)-based algorithms to identify patients at high risk of CD and in need of CD screening.

To evaluate a proposed natural language processing (NLP) and machine-learning based automated method to risk stratify abdominal pain patients by analyzing the content of the electronic health record (EHR).

We define and validate an architecture for systems that identify patient cohorts for clinical trials from multiple heterogeneous data sources. This architecture has an explicit query model capable of supporting temporal reasoning and expressing eligibility criteria independently of the representation of the data used to evaluate them.

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 [...]

Mental illness is the leading cause of disability in the USA, but boundaries between different mental illnesses are notoriously difficult to define. Electronic medical records (EMRs) have recently emerged as a powerful new source of information for defining the phenotypic signatures of specific diseases. We investigated how EMR-based text mining and statistical analysis could elucidate the phenotypic boundaries of three important neuropsychiatric illnesses-autism, bipolar disorder, and schizophrenia.