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.
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.
Russian CRISPR researcher moves along with plans to ultimately alter the genes of embryos of deaf couples, though awaits regulatory approval, Nature News reports.
In PLOS this week: genome-wide association study of non-syndromic orofacial cleft subtypes, epigenetic and transcriptomic analysis of pancreatic ductal adenocarcinoma, and more.
