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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.
St. Jude Children's Research Hospital scientists have treated infants with X-linked severe combined immunodeficiency using gene therapy in an early phase study.
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.
Bloomberg reports that BGI's SARS-CoV-2 testing sites in the Middle East have raised concerns among US officials.
A new Pew Research Center poll finds confidence in medical researchers has grown among US adults since the start of the coronavirus pandemic.
In Science this week: machine learning algorithm for faster Mendelian disorder diagnoses, gene linked to safe response to nitrogen-containing bisphosphonates, and more.