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Although rare disease patients make up approximately 6-8% of all patients in Europe, it is often difficult to find the necessary expertise for diagnosis and care and the patient numbers needed for rare disease research. The second French National Plan for Rare Diseases highlighted the necessity for better care coordination and epidemiology for rare diseases. A clinical data standard for normalization and exchange of rare disease patient data was proposed [...]

(1) To develop an automated eligibility screening (ES) approach for clinical trials in an urban tertiary care pediatric emergency department (ED); (2) to assess the effectiveness of natural language processing (NLP), information extraction (IE), and machine learning (ML) techniques on real-world clinical data and trials.

To propose a new approach to privacy preserving data selection, which helps the data users access human genomic datasets efficiently without undermining patients' privacy.

The clinical note documents the clinician's information collection, problem assessment, clinical management, and its used for administrative purposes. Electronic health records (EHRs) are being implemented in clinical practices throughout the USA yet it is not known whether they improve the quality of clinical notes. The goal in this study was to determine if EHRs improve the quality of outpatient clinical notes.

The trade-off between the speed and simplicity of dictionary-based term recognition and the richer linguistic information provided by more advanced natural language processing (NLP) is an area of active discussion in clinical informatics. In this paper, we quantify this trade-off among text processing systems that make different trade-offs between speed and linguistic understanding. We tested both types of systems in three clinical research tasks: phase IV safety profiling of a [...]

Venous thromboembolisms (VTEs), which include deep vein thrombosis (DVT) and pulmonary embolism (PE), are associated with significant mortality, morbidity, and cost in hospitalized patients. To evaluate the success of preventive measures, accurate and efficient methods for monitoring VTE rates are needed. Therefore, we sought to determine the accuracy of statistical natural language processing (NLP) for identifying DVT and PE from electronic health record data.

Pooling data across biobanks is necessary to increase statistical power, reveal more subtle associations, and synergize the value of data sources. However, searching for desired data elements among the thousands of available elements and harmonizing differences in terminology, data collection, and structure, is arduous and time consuming.

To test the effectiveness of multiple interventions on increasing the response rate of text messaging for longitudinal data collection.

To develop expeditiously a pragmatic, modular, and extensible software framework for understanding and improving healthcare value (costs relative to outcomes).

The capability to share data, and harness its potential to generate knowledge rapidly and inform decisions, can have transformative effects that improve health. The infrastructure to achieve this goal at scale--marrying technology, process, and policy--is commonly referred to as the Learning Health System (LHS). Achieving an LHS raises numerous scientific challenges.