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.
Nucleic Acids Research Papers on Cancer Virtual Cohort, Single-Cell Cancer Expression, Variant Tools
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.
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.