Canada's Gene42, maker of PhenoTips software, recently forged partnerships with CHOP, Genome Canada, and SeqOne in the fight against rare genetic diseases.
CHOP's Gabriella Miller Kids First Pediatric Data Resource Center will use PhenoTips software from Gene42 to integrate "deep phenotyping" with genomic data.
Researchers uncovered subclones within pediatric glioblastoma and diffuse intrinsic pontine glioma patients that influence the abilities of neighboring cells.
St. Jude researchers found germline mutations in the transcription factor gene IKZF1 in 0.9 percent of presumed sporadic pediatric acute lymphoblastic leukemia cases.
The national PROFYLE study seeks to sequence tumor and matched normal samples from children and young adults with relapsed or treatment-resistant cancer.
St. Jude Cloud, powered by DNAnexus and Microsoft, offers free access to thousands of WGS records plus cloud-based visualization and computational tools.
California Kids Cancer Comparison leader David Haussler said the project's workflow was able to match 100 percent of tumor samples it tested to possible treatments.
A proportion of pediatric ALL patients appear to have germline TP53 mutations associated with later diagnoses, poorer outcomes, and increased secondary cancer risk.
