Hospital for Sick Children
Medulloblastoma Molecular Studies Point to Cell Origins, Progenitor Differentiation
A pair of studies suggest group 3 and group 4 medulloblastoma subtypes stem from alterations affecting the unipolar brush cell lineage in the developing brain's rhombic lip region.
Medical Genome Initiative Develops Best Practices, Standards for Clinical Whole-Genome Sequencing
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The nine-institute organization, founded by Illumina, recently issued guidelines for the interpretation and reporting of clinical whole-genome sequencing tests.
Rare Tandem Repeat Expansions May Contribute to Schizophrenia Risk, Genome-Wide Analysis Finds
Researchers found an increased burden of expansions near exons, especially exon junctions, among individuals with schizophrenia.
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.