The Center for Data Driven Discovery in Biomedicine is a joint project of CHOP Research Institute and CHOP's Department of Biomedical Health and Informatics.
Both studies found that about 40 percent of pediatric cancer patients have mutations with potential clinical significance, either for diagnosis or treatment.
The funds from the Sohn Conference Foundation will allow the university to provide sequencing analysis and expertise to kids with cancer to hospitals in the city.
With ProteinPaint, investigators can visualize sequence mutations, gene fusions, and RNA expression to interpret patterns in germline and tumor samples.
More than 8 percent of pediatric cancer cases considered by the Pediatric Cancer Genome Project carried mutations affecting established cancer risk genes.
Exome and targeted gene sequencing uncovered germline variations in the ETV6 gene that may increase susceptibility to acute lymphoblastic leukemia.
A five-gene signature was linked to both event-free survival and overall survival in individuals with a type of rhabdomyosarcoma missing a prognostically informative gene fusion.
UC Santa Cruz is collaborating with Microsoft's research arm to use Azure to analyze data from several genomics projects focused on pediatric cancer and other diseases.
Researchers performed exome and transcriptome sequencing in 91 pediatric cancer patients, identifying actionable results in 42 patients.
Using funds from the California precision medicine initiative, the group will use its bioinformatics expertise to match patients to treatments in pediatric clinical trials.
A man has confessed to the rape and murder of developmental biologist Suzanne Eaton, according to the New York Times.
The Irish Times reports that US lawmakers and law enforcement agencies are concerned about ties between the US and Chinese genomics firms.
Parents of children with spinal muscular atrophy tell the Washington Post they are pushing to get insurance coverage of Novartis's Zolgensma.
In PNAS this week: gene mutations in individuals with syndromic craniosynostosis, putative colorectal cancer drivers, and more.