RNA sequencing has emerged as a powerful supplement to DNA sequencing for Mendelian disease diagnosis, but clinical translation of diagnostic RNA-seq has not been widely achieved. Researchers at ...
Central nervous system tumors accounted for 30 of the 48 revised diagnoses. In 13 cases, RNA-seq reclassified ependymoma as glioma, astroblastoma, or paraganglioma. Seven low-grade gliomas were ...
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