Article
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes.
Molecular diagnosis & therapy - 1 Oct 2020
Dimartino Paola, Mariani Valeria, Marconi Caterina, Minardi Raffaella, Bramerio Manuela, Licchetta Laura, Menghi Veronica, Morandi Luca, Magini Pamela, Mongelli Patrizia, Cardinale Francesco, Seri Marco, Tinuper Paolo, Tassi Laura, Pippucci Tommaso, Bisulli Francesca
Abstract excerpt
BACKGROUND: Formalin-fixed, paraffin-embedded brain specimens are a potentially rich resource to identify somatic variants, but their DNA is characterised by low yield and extensive degradation, and matched peripheral samples are usually unavailable for analysis. METHODS: We designed single-molecule molecular inversion probes to target 18 MTOR somatic mutational hot-spots in unmatched, histologically proven focal...
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