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Within the KiCS study researchers found targetable mutations in more than half of the kids, but few actually received drugs based on those molecular markers.
In the study, thirty percent of patients receiving a genome sequencing test obtained a new primary molecular genetic diagnosis.
The expansions were often in exons or near splice junctions of genes involved in nervous system development, the cardiovascular system, and muscle tissue.
In Nucleic Acids Research this week: a web platform that combines large molecular and clinical datasets, a web resource for standardized single-cell RNA sequencing data, and more.
The study suggests that pediatric low-grade gliomas driven by genetic rearrangements tend to be diagnosed earlier and have better outcomes than those driven by SNVs.
Scientists in Canada are looking to the UK's plan to sequence children with rare conditions for inspiration, the National Post reports.
The Common Infrastructure for National Cohorts in Europe, Canada, and Africa (CINECA) project looks to harmonize ontologies and create an interoperability platform for global genomics research.
In PLOS this week: potential cystic fibrosis modifiers, potential kidney cancer survival signature, and more.
The team plans to launch an RNA-seq diagnostic test out of the SickKids clinical laboratory in one year to complement clinical exome sequencing.
The money is being provided under three Genome Canada funding competitions in partnership with the Canadian federal government and other groups.
Reuters reports that Germany is seeking to sequence 5 percent of patient samples that test positive for SARS-CoV-2.
The publisher of the Science family of journals will allow some authors to place peer-reviewed versions of their papers into publicly accessible repositories.
23andMe and Medscape say primary care physicians are increasingly more comfortable with discussing direct-to-consumer genetic testing results.
In Science this week: analysis of genome-wide association studies of chronic kidney disease, and more.