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Comprehensive analysis by a team led by Elaine Mardis has given 93 percent of around 150 pediatric cancer patients at least one medically actionable finding.
Though some experts prefer the comprehensive nature of whole-genome sequencing, others find whole-exome sequencing or targeted exome panels to be more useful.
Combined DNA/RNA-seq efforts in various settings could lead to new ways of treating kids with drugs meant for adults or to the development of new therapies.
The hospital is in the process of clinically validating a sequencing pipeline for its pediatric cancer patients, with the goal of demonstrating clinical utility.