Core Resources : Research Informatics Core
Research Informatics Core
Co-Director: Gary W. Beecham, Ph.D., gbeecham@med.miami.edu
Co-Director: Dale Hedges, Ph.D., dhedges@med.miami.edu
The Research Informatics Core consists of cross-discipline teams working to help improve the understanding of genetic variation in human health and disease. The Core includes an interdisciplinary group of bioinformatics scientists, software developers and application support engineers providing informatics and bioinformatics support for applications in genomic research. Faculty members in the Core perform research focusing on informatics and bioinformatics methods and applications in human genetic studies.
The Core includes staff adept in the development of research applications and in the management and analysis of large and diverse datasets. This includes the development and maintenance of the next-generation sequence data pipeline and quality control as well as the development of clinical and medical genetics databases, software, and interfaces. The Core also provides analytical support for bioinformatics problems, including analysis and annotation of sequence data, functional prediction of variants, gene expression analyses, and gene and biochemical pathway analyses. Finally, methods development for next-generation sequence data analysis and management is also available.
Among the capabilities of the Core is expertise in next generation sequencing data analysis (Illumina and SOLiD platforms) including: the study of whole transcriptomes; targeted re-sequencing; and genomic capture of exons. The Core also provides for the development and maintenance of next generation data analysis work-flows, including the following: alignments; detection of variations (e.g. SNPs); in silico functional annotation; and detection of genetic differences between case and controls. Our team is skilled in the development of computer systems for gene prioritization strategies in clinical and genetics research. We also provide enterprise-class software engineering and support for: genomic medicine and theranostic applications; and the management of clinical ascertainment and for large-scale genetic studies of disease.
The Core interacts closely with the High Performance Computing Group at the University of Miami Center for Computational Science (CCS). Data analysis is carried out on a 5000 processor high performance computing cluster, Pegasus, commissioned by CCS and available for HIHG usage. Most common genetic analysis software and bioinformatics tools are available on the clusters, as well as the standard statistical software packages. Four hundred and fifty terabytes of on-line storage is connected to the end-user computer network, and to the high-performance clusters. The Medical IT team performs backup and restoration of data on the storage system.