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.
The phenome-wide association study focused on SNPs near potential drug target sites with ties to one or more phenotypes that might impact target suitability.
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.
Mainichi reports that 43 percent of Japanese individuals said they did not want to eat agricultural products that had been modified using gene-editing tools.
Two US Department of Agriculture research departments are moving to the Kansas City area, according to the Washington Post.
Slate's Jane Hu compares some at-home genetic tests to astrology.
In PLOS this week: analysis of polygenic risk scores for skin cancer, chronic pain GWAS, and more.