Hospital for Sick Children
SickKids' 'Rigorous' Molecular Analysis IDs Targetable Alterations, Cancer Susceptibility Mutations
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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.
Genome Sequencing Boosts Diagnostic Yield in Children With Unexplained Medical Complexity
In the study, thirty percent of patients receiving a genome sequencing test obtained a new primary molecular genetic diagnosis.
Individuals With Autism More Likely to Have Expanded Tandem DNA Repeats
The expansions were often in exons or near splice junctions of genes involved in nervous system development, the cardiovascular system, and muscle tissue.
Pediatric Low-Grade Glioma Molecular and Clinical Analysis Defines Subtypes That Predict Outcome
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.
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.