TR-14-02 The GMW, A Genetic Medical Workflow Engine

Genomic data are rapidly amassing as a result of recent advancements in next-generation genomic sequencing and other high-throughput “-omics” technologies (Mardis, 2008; Horvitz and Mitchell, 2010; Koboldt et al., 2010; Kahn, 2011). Yet, we are far from an era of routine genetic screening (Evans and Berg, 2014). In order to take full advantage of the wealth of genomic data available today, and thereby better serve patients, technological advances are required to enable the secure, cost-effective, efficient, and accurate processing of genome-wide data, from sample collection in the clinic to physician or researcher interpretation of results (Ahalt et al., 2014; the Global Alliance to Enable Responsible Sharing of Genomic and Clinical Data, 2013; Data and Informatics Working Group, National Institutes of Health BD2K Initiative, 2012).

Herein, we describe the Genetic Medical Workflow (GMW) Engine—an open source system that provides end-to-end capture, analysis, validation, and reporting of genome-wide data for use in research and routine clinical care.