Funded Research

Accelerating Novel Genetic Discoveries by CDI Investigators via Next-generation DNA Sequencing
Principal Investigator(s):
  • Jeffrey Magee, M.D., Ph.D. Pediatrics
  • Robi D. Mitra, Ph.D. Genetics Visit Website
  • All Centers
Award Mechanism:
Core Large Initiative
Project Period:
7/1/2012 - 6/30/2019
Total Amount:

This renewal will continue to provide access to the latest in next-generation DNA sequencing and other genomics technologies to projects and investigators supported by the Children’s Discovery Institute (CDI). With the support of the CDI, funded investigators enjoy unprecedented access and cost savings to these revolutionary, but ever evolving, technologies. DNA library preparation, sequencing platform access, gene expression analysis, and bioinformatic support are all provided through the Genome Technology Access Center (GTAC) located within Washington University’s Center for Genome Sciences and Systems Biology. This intra-institutional partnership has proven to be highly fruitful for both parties and directly supports the mission of the CDI by enabling elite genomic research into pediatric disease. In fact, our first three years have realized an impressive and diverse array of novel genetic discoveries in pediatric physiology and complex disease such as respiratory distress syndrome in premature infants, transmission of antibiotic resistance genes in gut bacteria, genetic regulation of congenital urinary system malformations, genetic characterization of malaria resistance, new genetic mechanisms in pediatric brain tumors and high-risk leukemias, and discovery of new genes involved in various muscular dystrophies. These genetic discoveries will evolve into new hospital and laboratory-based research, improving our collective ability to diagnose and treat these debilitating pediatric diseases. Our goal in this renewal is, through our partnership with GTAC, to continue supporting the novel and innovative research done by CDI-investigators by providing elite genomics technologies services and bioinformatic expertise.

Genome Technologies Core

Quantification of rare allelic variants from pooled genomic DNA (Nature Methods 1 MARCH 2009; DOI:10.1038/NMETH.1307)