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The Big Data to Knowledge (BD2K) Center for Causal Discovery is developing and disseminating an integrated set of open source tools that support causal modeling and discovery of biomedical knowledge from large and complex biomedical datasets. The Center integrates teams of biomedical and data scientists focused on the refinement of existing and the development of new constraint-based and Bayesian algorithms based on causal Bayesian networks, the optimization of software for [...]

The usability of electronic health records (EHRs) continues to be a point of dissatisfaction for providers, despite certification requirements from the Office of the National Coordinator that require EHR vendors to employ a user-centered design (UCD) process. To better understand factors that contribute to poor usability, a research team visited 11 different EHR vendors in order to analyze their UCD processes and discover the specific challenges that vendors faced as [...]

Modern biomedical data collection is generating exponentially more data in a multitude of formats. This flood of complex data poses significant opportunities to discover and understand the critical interplay among such diverse domains as genomics, proteomics, metabolomics, and phenomics, including imaging, biometrics, and clinical data. The Big Data for Discovery Science Center is taking an "-ome to home" approach to discover linkages between these disparate data sources by mining existing [...]

The world's genomics data will never be stored in a single repository - rather, it will be distributed among many sites in many countries. No one site will have enough data to explain genotype to phenotype relationships in rare diseases; therefore, sites must share data. To accomplish this, the genetics community must forge common standards and protocols to make sharing and computing data among many sites a seamless activity. Through [...]

Clinicians' ability to use and interpret genetic information depends upon how those data are displayed in electronic health records (EHRs). There is a critical need to develop systems to effectively display genetic information in EHRs and augment clinical decision support (CDS).

To examine the impact of health information exchange (HIE) on reducing laboratory tests and radiology examinations performed in an emergency department (ED).

The author sought to integrate an ontology of rare diseases with a large ontological model of radiological diagnosis.

To examine the feasibility of deploying a virtual web service for sharing data within a research network, and to evaluate the impact on data consistency and quality.

To design and implement a tool that creates a secure, privacy preserving linkage of electronic health record (EHR) data across multiple sites in a large metropolitan area in the United States (Chicago, IL), for use in clinical research.

We have identified 5 use cases that comprise a useful definition of an "open or interoperable electronic health record (EHR)." Each of these use cases represents important functionality that should be available to 1) clinicians, so they can provide safe and effective health care; 2) researchers, so they can advance our understanding of disease and health care processes; 3) administrators, so they can reduce their reliance on a single-source EHR [...]