Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease.
-
Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease. The New England journal of medicine. 2016 Mar 24;374(374). 1134-44.
Genome-wide association studies (GWAS) have identified thousands of variants robustly associated with complex traits. However, the biological mechanisms underlying these associations are, in general, not well understood. We propose a gene-based association method called PrediXcan that directly tests the molecular mechanisms through which genetic variation affects phenotype.
To evaluate the phenotyping performance of three major electronic health record (EHR) components: International Classification of Disease (ICD) diagnosis codes, primary notes, and specific medications.
The Health Information Technology for Economic and Clinical Health (HITECH) Act of 2009 mandates the development and implementation of electronic health record (EHR) systems across the country.
To describe the development and evaluation of computational tools to identify concepts within medical curricular documents, using information derived from the National Library of Medicine's Unified Medical Language System (UMLS). The long-term goal of the KnowledgeMap (KM) project is to provide faculty and students with an improved ability to develop, review, and integrate components of the medical school curriculum.
We developed the KnowledgeMap (KM) system as an online, concept-based database of medical school curriculum documents. It uses the KM concept indexer to map full-text documents and match search queries to concepts in the Unified Medical Language System (UMLS). In this paper, we describe the design of KM and report the first seven months of its implementation into a medical school. Despite being emphasized in only two first year courses and one fourth year course, students from all four classes used KM to search and browse documents.
KM is a Web-accessible, comprehensive database that organizes course materials (at the level of full lectures, not just outlines or syllabi) from the Vanderbilt School of Medicine curriculum. KM uses natural language processing techniques to analyze educational documents for biomedical concepts. Lecture handouts and Microsoft PowerPoint presentations are indexed and available online for students, faculty and administrators to search for individual or interrelated concepts across the medical school curriculum.