This embargo-free strategy represents "an entirely new way of doing research" into rare pediatric cancers, where time is of the essence.
The projects are organized by the Eliminate Cancer Initiative, the National Brain Tumor Society, and the Pediatric Brain Tumor Foundation.
Exome sequencing led to gain-of-function mutations in the calcium voltage-gated channel gene CACNA1E in 30 developmental and epileptic encephalopathy cases.
The phenome-wide association study focused on SNPs near potential drug target sites with ties to one or more phenotypes that might impact target suitability.
Researchers use a CRISPR approach in utero to treat a lethal condition in mice, Stat News reports.
CHOP's Gabriella Miller Kids First Pediatric Data Resource Center will use PhenoTips software from Gene42 to integrate "deep phenotyping" with genomic data.
Researchers at Columbia University and CHOP believe they can shorten time to diagnosis and improve yield by extracting phenotypic data from EHRs for genomic labs.
Investigators identified ties between autism spectrum disorder and mitochondrial haplogroups in mtDNA variant data from nearly 1,000 ASD-affected families.
Hospital will partner with several other institutions in this effort to support data-driven research into pediatric cancers and structural birth defects.
Investigators are searching for non-invasive biomarkers of rejection and earlier stage graft injury in children and adults who have received kidney transplants.
Thermo Fisher Scientific says it will no longer sell machines in China's Xinjiang region, according to the Wall Street Journal.
New Scientist reports that 20 percent of human and yeast proteins are uncharacterized.
The University of Zurich's Ruedi Aebersold and his colleagues analyzed a dozen HeLa cell lines to find differences in gene expression, protein levels, and more.
In Nature this week: protein-coding variants associated with body-fat distribution, and more.