Software

Mutadelic: mutation analysis using description logic inferencing capabilities.

MOTIVATION: As next generation sequencing gains a foothold in clinical genetics, there is a need for annotation tools to characterize increasing amounts of patient variant data for identifying clinically relevant mutations. While existing …

MU2A--reconciling the genome and transcriptome to determine the effects of base substitutions.

MOTIVATION: Next-generation sequencing technologies enable the identification of sequence variation in the genome and transcriptome. Differences between the reference genome and transcript libraries complicate the determination of the effect of …

Embedding the guideline elements model in web ontology language.

The Guideline Elements Model (GEM) uses XML to represent the heterogeneous knowledge contained in clinical practice guidelines. GEM has important applications in computer aided guideline authoring and clinical decision support systems. However, its …

Yale Image Finder (YIF): a new search engine for retrieving biomedical images.

UNLABELLED: Yale Image Finder (YIF) is a publicly accessible search engine featuring a new way of retrieving biomedical images and associated papers based on the text carried inside the images. Image queries can also be issued against the image …

The BiolAD-DB system : an informatics system for clinical and genetic data.

The Biology of Addictive Diseases-Database (BiolAD-DB) system is a research bioinformatics system for archiving, analyzing, and processing of complex clinical and genetic data. The database schema employs design principles for handling complex …

Term identification in the biomedical literature.

Sophisticated information technologies are needed for effective data acquisition and integration from a growing body of the biomedical literature. Successful term identification is key to getting access to the stored literature information, as it is …

GeneWays: a system for extracting, analyzing, visualizing, and integrating molecular pathway data.

The immense growth in the volume of research literature and experimental data in the field of molecular biology calls for efficient automatic methods to capture and store information. In recent years, several groups have worked on specific problems …