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.
NantHealth, CHOP, and their collaborators intend to release genomic, transcriptomic, and proteomic data from 1,600 patients in the next six months
In a commentary at eLife, Brandeis University's Eve Marder calls on researchers to value and pursue truth.
Researchers have developed a way to quickly edit white blood cells, according to the New York Times.
In Science this week: rice gene enables plants to grow quickly in times of flooding, and more.
Education-linked genetic variants could also predict a small portion of a person's social mobility, Newsweek reports.