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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.
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.
IBM security researchers warn of a phishing campaign targeted at organizations involved in the distribution of SARS-CoV-2 vaccines, the Verge reports.
The Illinois police have cut the number of DNA tests waiting to be run in about half, CBS Chicago reports.
A researcher accused of smuggling research materials out of the US has pleaded guilty to making false statements, according to the Associated Press.
In Science this week: gene expression signature linked to nonalcoholic fatty liver disease progression, and more.