The Genomics Research and Innovation Network has built an open-source system for querying genotype-phenotype databases at its member hospitals.
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.
GenomeWeb reports that Veritas Genetics is suspending its US operations.
A Brazilian-led team of researchers reports it has generated a sugarcane genome assembly that encompasses more than 99 percent of its genome.
Certain plasma proteins could be used to gauge a person's age and whether they are aging well, according to HealthDay News.
In Science this week: approach to measure microRNA targeting efficiency, strategy to conduct high-throughput chemical screens at single-cell resolution, and more.