The Genomics Research and Innovation Network (GRIN) is a federated platform from three major pediatric hospitals to assist in research and treatment of rare diseases.
At the NCI's Childhood Cancer Data Initiative Symposium, speakers emphasized measures such as data harmonization and the need for longitudinal data collection.
In PNAS this week: mathematical model of metastatic seeding, mitochondrial mutation effects, and more.
Functional analyses indicated that the de novo variant in AP2M1 found in four patients affects clathrin-mediated endocytosis and synaptic vesicle recycling.
At the ACMG meeting, a Children's Hospital of Philadelphia researcher described finding relatively high rates of hereditary cancer variants in tumor sequence data.
DARTS uses deep learning-based techniques to leverage public RNA-sequencing datasets to make predictions about alternative splicing in individuals datasets.
The effort, outlined in a Development Cell paper published online today, aims to complement the ongoing Human Cell Atlas initiative, but with a focus on pediatric health.
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.
A new study catalogues the genome and evolutionary history of the oak family, UPI reports.
Dog DNA testing is a growing market, but there's still a lot of uncertainty about the accuracy of the results, the Boston Globe says.
A University of South Florida researcher is testing bone fragments to determine if they belong to Amelia Earhart.
In Cell this week: antisense Piwi-interacting RNA responses to endogenous retroviruses, proteomic patterns in hepatocellular carcinoma, and more.