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Overview

The discovery of the causative genetic underpinnings of disease has been a focus of biomedical research for decades. The multigenic nature of many common diseases has hindered progress in gaining an understanding of the underlying mechanisms that lead to a particular disease phenotype. Recent advances in high-throughput technologies, which evaluate tens of thousands of genes or proteins in a single experiment, are providing new methods for determining biochemical determinants of the disease process.

To facilitate these high-throughput technologies, the correlation of specific phenotypes to individual genotypes is key to leveraging the use of model organisms and human subjects in biomedical research. Combining these data in useful ways allows biomedical researchers to ask complex questions about the mechanism of specific disease manifestations to reveal new insights that may lead to the discovery of informative disease markers and new therapeutics. This vision can only be achieved by integrating technologies from the fields of bioinformatics, computational biology, biostatistics and clinical informatics into a single discipline: Biomedical Informatics.

The Biomedical Informatics Facility is a multi-faceted shared resource combining the fields of bioinformatics, computational biology, clinical informatics and biostatistics. The Biomedical Informatics Facility enables biomedical investigators to exploit existing and emerging computational technologies in order to seamlessly store, mine and retrieve data from genomic, proteomic, and sequencing data that has been integrated with clinical and phenotypic information.

By integrating these disparate types of data through biomedical informatics, biomedical researchers have new tools with which they can link genotype to phenotype. Expert consultations, in conjunction with the Biostatics Unit, assist investigators by supporting sophisticated data analyses for proteomics, transcriptional profiling, genotyping and bioinformatics. The facility also accommodates the needs of basic scientists requiring bioinformatics software, and makes it available at no cost or through discounted rates. Researchers can also receive training on the use of bioinformatics software and analysis methods so that they can become more proficient at using computational tools in their investigative studies.