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.
Mutations in the WDR26 gene appear to contribute to a condition marked by intellectual disability, facial dysmorphism, and movement problems.
In PLOS this week: common variants linked to neuroblastoma susceptibility, rabies virus phylogeography, and more.
The study will use NantHealth's GPS Cancer test to help treat adult and pediatric brain cancer patients.
The researchers plan to investigate whether whole-genome sequencing can cost-effectively improve the diagnostic rate for leukodsystrophy patients.
The study, which is still ongoing, also provided support for a separate Phase 2/3 trial of a targeted treatment for the neurodevelopmental disorder.
The UK's Human Fertility and Embryology Authority calls for consumer genetic testing companies to warn customers that testing could uncover family secrets, according to the Guardian.
Researchers have transplanted edited cells into mice that appear to combat cocaine addiction, New Scientist reports.
The New York Times reports that United Nations delegates have been discussing how to govern the genetic resources of the deep sea.
In PNAS this week: analysis of proteolytic enzymes secreted by circulating tumor cells, phylogenetic study of Fv1 evolution, and more.