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Clinical evaluation of a dedicated next generation sequencing panel for routine glioma diagnostics

23 Nov 2018

Abstract excerpt

Since 2013 next-generation sequencing (NGS) targeting genes mutated in diffuse gliomas is part of routine diagnostics in our institute. In the present report, we evaluate the use of this custom tailored NGS platform on 434 samples. The NGS panel assesses mutations in ATRX, CIC, EGFR, FUBP1, NOTCH1, PTEN; H3F3A, IDH1/2, PIK3CA, and BRAF, amplifications in EGFR or MDM2 and copy number alterations (CNA) of...

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PMID: 30470264
DOI: 10.1186/s40478-018-0633-y

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