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Semantic similarity analysis facilitates automated semantic explanations of biological and clinical data annotated by biomedical ontologies. Gene ontology (GO) has become one of the most important biomedical ontologies with a set of controlled vocabularies, providing rich semantic annotations for genes and molecular phenotypes for diseases. Current methods for measuring GO semantic similarities are limited to considering only the ancestor terms while neglecting the descendants. One can find many GO term [...]

The fifth i2b2/VA Workshop on Natural Language Processing Challenges for Clinical Records conducted a systematic review on resolution of noun phrase coreference in medical records. Informatics for Integrating Biology and the Bedside (i2b2) and the Veterans Affair (VA) Consortium for Healthcare Informatics Research (CHIR) partnered to organize the coreference challenge. They provided the research community with two corpora of medical records for the development and evaluation of the coreference resolution [...]

Advances in surveillance science have supported public health agencies in tracking and responding to disease outbreaks. Increasingly, epidemiologists have been tasked with interpreting multiple streams of heterogeneous data arising from varied surveillance systems. As a result public health personnel have experienced an overload of plots and charts as information visualization techniques have not kept pace with the rapid expansion in data availability. This study sought to advance the science of [...]

To assess evidence of the impact of Picture Archiving and Communication Systems (PACS) on clinicians' work practices in the intensive care unit (ICU).

Since publication of the human genome in 2003, geneticists have been interested in risk variant associations to resolve the etiology of traits and complex diseases. The International HapMap Consortium undertook an effort to catalog all common variation across the genome (variants with a minor allele frequency (MAF) of at least 5% in one or more ethnic groups). HapMap along with advances in genotyping technology led to genome-wide association studies which [...]

With recent breakthroughs in high-throughput sequencing, identifying deleterious mutations is one of the key challenges for personalized medicine. At the gene and protein level, it has proven difficult to determine the impact of previously unknown variants. A statistical method has been developed to assess the significance of disease mutation clusters on protein domains by incorporating domain functional annotations to assist in the functional characterization of novel variants.

To research computational methods for coreference resolution in the clinical narrative and build a system implementing the best methods.

Morphologic variations of disease are often linked to underlying molecular events and patient outcome, suggesting that quantitative morphometric analysis may provide further insight into disease mechanisms. In this paper a methodology for the subclassification of disease is developed using image analysis techniques. Morphologic signatures that represent patient-specific tumor morphology are derived from the analysis of hundreds of millions of cells in digitized whole slide images. Clustering these signatures aggregates tumors [...]

In the midst of a US $30 billion USD investment in the Nationwide Health Information Network (NwHIN) and electronic health records systems, a significant change in the architecture of the NwHIN is taking place. Prior to 2010, the focus of information exchange in the NwHIN was the Regional Health Information Organization (RHIO). Since 2010, the Office of the National Coordinator (ONC) has been sponsoring policies that promote an internet-like architecture [...]