Research presented at ASCO's annual meeting underscores the need for more cancer susceptibility studies in diverse populations, experts say.
Building on results from cases reported this week, investigators in the United Arab Emirates are working to expand access to rapid whole-genome sequencing in the pediatric ICU.
Researchers tallied expression features across hundreds of cell types with single-cell or -nucleus sequencing on hundreds of thousands of cells from numerous individuals.
Researchers developed assays to assess PRSs for six common conditions, along with methods for sharing the results with doctors and patients.
Integrated analysis of cell-free DNA appears to help predict the development of cancer in individuals with the hereditary cancer susceptibility condition.
In the first 1,000 families tested through a sequencing-based program at the National Institute of Allergy and Infectious Diseases, researchers diagnosed almost a third of cases.
A retrospective analysis of multi-gene panel tests for more than 300 adult sarcoma patients unearthed pathogenic or likely pathogenic variants in cancer genes in 16 percent of cases.
Along with germline sequencing results, the research team tracked recommendations by pediatric oncologists in response to structured email reports outlining the results.
Researchers demonstrated that their method, called EDS-HAT, can pick up outbreaks in hospitals that would otherwise remain undetected.
The Children's Mercy Research Institute is using exome sequencing, genome sequencing, and other methods to diagnose and study rare pediatric conditions in underserved patients.