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.
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.
