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.
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.
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.
Nobel laureates and scientific societies urge NIH and the Department of Health and Human Services to revisit the recent decision to end funding for a coronavirus grant.
In Science this week: machine learning algorithm for faster Mendelian disorder diagnoses, gene linked to safe response to nitrogen-containing bisphosphonates, and more.
