The institute will apply long-read sequencing to the NIH All of Us program and conduct pediatric sequencing for cancer and birth defect studies.
In Genome Research this week: PeCanPIE platform for finding, annotating, and ranking pathogenic variants; commensal Escherichia coli analysis; and more.
At the NCI's Childhood Cancer Data Initiative Symposium, speakers emphasized measures such as data harmonization and the need for longitudinal data collection.
A St. Jude Children's Research Hospital-led team found BRCA2 mutations are more common among survivors of non-Hodgkin lymphoma than individuals without cancer.
Using single-cell RNA-seq and other approaches, researchers looked at the four known medulloblastoma subtypes and the brain cell types from which they arise.
Though some experts prefer the comprehensive nature of whole-genome sequencing, others find whole-exome sequencing or targeted exome panels to be more useful.
In Genome Research this week: genomic architecture of glioblastoma, predictive computational approach to estimate SNP fitness, and more.
St. Jude investigators are sharing their WGS cancer data through the St. Jude Cloud, as well as tools and pipelines to help other researchers analyze and use it.
Combined DNA/RNA-seq efforts in various settings could lead to new ways of treating kids with drugs meant for adults or to the development of new therapies.
The actual match rate is significantly higher than the 10 percent rate the researchers anticipated they would see when the study began in 2017.
Russian CRISPR researcher moves along with plans to ultimately alter the genes of embryos of deaf couples, though awaits regulatory approval, Nature News reports.
University of California, San Francisco, researchers have uncovered a gene mutations that appears to make a father-son duo more efficient sleepers.
NPR reports a large health insurer has begun to cover some pharmacogenetic tests for psychiatric drugs.
In PLOS this week: genome-wide association study of non-syndromic orofacial cleft subtypes, epigenetic and transcriptomic analysis of pancreatic ductal adenocarcinoma, and more.