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SYNOPSIS:

The use of genome-wide profiling technologies in basic and translational research is on the rise in the clinical setting. However, several potent informatics barriers must be overcome before clinical sequencing can become routine. Good Laboratory Practice-based quality-assurance metrics must be established to guarantee the accuracy required to make medical decisions. Genetic variants identified by sequencing must be systematically annotated and interpreted so that a clinical genomicist can decide which are medically actionable. Software applications and technologies are required to facilitate reporting of genomic results and to transmit these data to electronic health records. To address these issues, we have developed the Clinical Genomicist Workstation, which provides a “soup-to-nuts” solution for processing clinical sequencing ordersCRIS effort at University of Arkansas for Medical Sciences (UAMS) began five years ago and has been highly influenced by the caBIG® program. The CRIS Suite includes 20+ open-source tools, which are deployed within a single portal environment, and it is evolving constantly towards the big-data paradigm. Our main success factor has been having a clear communications channel with and the support of the Cancer Institute and UAMS leadership. The investment has started to result in the campus-wide usage of CRIS and an increased informatics awareness throughout our research community.  Moreover, the CRIS Initiative is taking part in the National Children’s Study, which involves collaborations with a number of other institutions (and more).

BIO:

Dr. Rakesh Nagarajan is an Assistant Professor in the Department of Pathology and Immunology at Washington University School of Medicine in St. Louis, Director of the Institute of Clinical and Translational Sciences, and Director of the Alvin J. Siteman Cancer Center for Biomedical Informatics. As Director of the Center for Biomedical Informatics, he and his group have developed and support broad biomedical informatics infrastructure to facilitate clinical and translational research as well as collaborate on clinical and genomic projects by providing in silico analyses and expertise. Trained as a physician-scientist, Dr. Nagarajan received his M.D. and Ph.D. degrees from Washington University in St. Louis in 2002.

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