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Translational bioinformatics applications in genome medicine

Atul J Butte

Author Affiliations

Stanford Center for Biomedical Informatics, Department of Medicine and Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA, and Lucile Packard Children's Hospital, Palo Alto, CA 94304, USA

Genome Medicine 2009, 1:64  doi:10.1186/gm64

Published: 29 June 2009


Although investigators using methodologies in bioinformatics have always been useful in genomic experimentation in analytic, engineering, and infrastructure support roles, only recently have bioinformaticians been able to have a primary scientific role in asking and answering questions on human health and disease. Here, I argue that this shift in role towards asking questions in medicine is now the next step needed for the field of bioinformatics. I outline four reasons why bioinformaticians are newly enabled to drive the questions in primary medical discovery: public availability of data, intersection of data across experiments, commoditization of methods, and streamlined validation. I also list four recommendations for bioinformaticians wishing to get more involved in translational research.