NEW YORK (GenomeWeb) – The Gabriella Miller Pediatric Data Resource Center, backed by the US National Institutes of Health Common Fund's Gabriella Miller Kids First Pediatric Research Program, today launched an open-source research portal for pediatric cancers and structural birth defects.
Called the Kids First Data Resource Portal, the site now contains some some 8,000 DNA and RNA samples from children and families affected by such diseases. Organizers expect the collection to include 33,000 new pediatric whole-genome sequences by 2022.
"This portal fills a crucial need, providing researchers with easy access to genomic, clinical, and phenotypic data from a variety of childhood cancers and structural birth defects that would be extremely difficult to find elsewhere," James Coulombe, of the NIH National Institute of Child Health and Human Development, said in a statement. "We look to the database to spur discoveries that improve the health of children with these cancers and conditions."
The Pediatric Data Resource Center is a nascent central database to support data-driven research into pediatric cancers and structural birth defects. It is led and hosted by the Center for Data Driven Discovery in Biomedicine at the Children's Hospital of Philadelphia, with assistance from the Ontario Institute for Cancer Research, the University of Chicago, Children's National Health System, the Oregon Health and Science University, and data analysis company Seven Bridges Genomics.
Outside researchers will have access to Cavatica, a cloud platform jointly developed by CHOP and Cambridge, Massachusetts-based Seven Bridges to gather and share genomic, clinical, and other useful biomedical data for pediatric cancer and rare disease research.
"The Seven Bridges team optimized the harmonization workflow to reduce compute costs by more than three-fold and enabled us to rapidly scale to analyze thousands of whole-genome sequencing samples. These efficiencies help us do more analyses, faster," explained Kids First Data Resource Principal Investigator Adam Resnick, director of the Center for Data Driven Discovery in Biomedicine.
Also today, the partners announced that Gene42, a Toronto-based maker of software to support precision medicine programs, would team with the Pediatric Data Resource Center to customize its PhenoTips platform to integrate "deep phenotyping" with genomic data. PhenoTips helps clinicians capture and standardize phenotypic information at the point of care.
"The [Pediatric Data Resource Center] is a fantastic resource to study the relationship between pediatric cancers and structural birth defects," Gene42 Chief Medical Affairs Officer Pawel Buczkowicz said in a statement. "Cloud-based data portals such as this one, which engage patients, researchers, and clinicians from around the world are the future of how genomic medicine research will shape clinical practice."