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. 2022 May;143(5):609-612.
doi: 10.1007/s00401-022-02415-6. Epub 2022 Mar 31.

Rapid-CNS2: rapid comprehensive adaptive nanopore-sequencing of CNS tumors, a proof-of-concept study

Areeba Patel #  1   2 , Helin Dogan #  1   2 , Alexander Payne  3 , Elena Krause  1 , Philipp Sievers  1   2 , Natalie Schoebe  1   2 , Daniel Schrimpf  1   2 , Christina Blume  1   2 , Damian Stichel  1   2 , Nadine Holmes  3 , Philipp Euskirchen  4 , Jürgen Hench  5 , Stephan Frank  5 , Violaine Rosenstiel-Goidts  6 , Miriam Ratliff  7 , Nima Etminan  7 , Andreas Unterberg  8 , Christoph Dieterich  9 , Christel Herold-Mende  8 , Stefan M Pfister  10   11   12 , Wolfgang Wick  13   14 , Matthew Loose  3 , Andreas von Deimling  1   2 , Martin Sill #  10   11 , David T W Jones #  10   15 , Matthias Schlesner #  16 , Felix Sahm  17   18   19
Affiliations

Rapid-CNS2: rapid comprehensive adaptive nanopore-sequencing of CNS tumors, a proof-of-concept study

Areeba Patel et al. Acta Neuropathol. 2022 May.
No abstract available

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Figures

Fig. 1
Fig. 1
Rapid-CNS2 timeline and concordance with standard methods. Timeline for a NGS panel sequencing and analysis pipeline, and b EPIC array analysis pipeline for neuropathology diagnostics (x denotes number of days required to pool sufficient samples). c Timeline for Rapid-CNS2 sequencing and analysis for a single sample on a MinION or up to five samples on a GridION. d Concordance of clinically relevant alterations and classification for diffuse glioma samples with matching NGS panel sequencing and EPIC array analysis. Colored blocks indicate presence of alteration, concordance for detected alterations is denoted in the legend. Triangular denotations for methylation class indicate samples where methylation families were concordant and blocks indicate concordance for sub-classes as well. ‘PANEL_A’ indicates samples sequenced using Rapid_CNS_A, and ‘PANEL_B’ indicates samples sequenced using Rapid_CNS_B (sample by Rapid-CNS2 and 850 k identified as AT/RT excluded, depicted in Supplementary Fig. 4, online resource). Top barplot indicates mean on-target coverage. Red asterisk—different tissue region for Rapid-CNS2 vs conventional analyses, purple asterisk—alteration filtered by PEPPER-Margin-DeepVariant (see main text for details)
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References

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