Division of Research Informatics

Division of Research Informatics

research informatics cgesg

The Division of Research Informatics resides within the Center for Genetic Epidemiology and Statistical Genetics. The Faculty and staff in the Division consist of cross-discipline teams working to help improve the understanding of genetic variation in human health and disease. The Division of Research Informatics 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 Division perform research focusing on informatics and bioinformatics methods and applications in human genetic studies. The Division includes staff proficient in the development of research applications, management and analysis of large and diverse datasets, maintenance and quality control of the next-generation sequence data pipeline and development of clinical and medical genetics databases, software and interfaces.

The Division of Research Informatics provides expertise and analytical support for:

  • Whole exome/genome analysis
  • Targeted sequence analysis
  • Structural variation analysis
  • DNA methylation
  • Gene expression
  • MicroRNA expression
  • RNASeq/ChIPSeq
  • NGS data analysis

Additionally, the Division of Research Informatics provided 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 Division of Research Informatics works closely with the Divisions of Genetic Epidemiology and Statistical Programming to maintain and update data processing and 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 the Division of Research Informatics and Hussman Institute for Human Genomics (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 online storage is connected to the end-user computer network, and to the high-performance clusters. The University of Miami Medical IT team performs backup and restoration of data on the storage system.

The Division of Research Informatics is led by Gary Beecham, Ph.D., a statistical geneticist with expertise in bioinformatics, genome-wide association studies, next-generation sequence analysis methods, and related applications. Dr. Beecham has been involved in projects dealing with copy number variation analysis of complex traits, genetic analysis of several large GWAS, imputation of missing alleles in GWAS data, and quantitative trait analysis. He’s assisted in the development of the informatics pipeline for handling HIHG sequence data and has as an active role in several large sequencing studies