RAPID-CNS2 provides a swift and highly flexible alternative to conventional Next-generation sequencing NGS and array-based methods for single-nucleotide variant SNV/InDel analysis, detection of copy number alterations, target gene methylation analysis (e.g. MGMT), and methylation-based classification. The turnaround time of ∼5 days for this proof-of-concept study can be further shortened to < 24h by optimizing target sizes and enabling real-time computational analysis. Expected advances in nanopore sequencing and analysis hardware make the prospect of integrative molecular diagnosis in an intra-operative setting a feasible prospect in the future. This low-capital approach would be cost-efficient for low throughput settings or in locations with less sophisticated laboratory infrastructure, and invaluable in cases requiring immediate diagnoses 1)

1)
Patel A, Dogan H, Payne A, Krause E, Sievers P, Schoebe N, Schrimpf D, Blume C, Stichel D, Holmes N, Euskirchen P, Hench J, Frank S, Rosenstiel-Goidts V, Ratliff M, Etminan N, Unterberg A, Dieterich C, Herold-Mende C, Pfister SM, Wick W, Loose M, von Deimling A, Sill M, Jones DTW, Schlesner M, Sahm F. Rapid-CNS2: rapid comprehensive adaptive nanopore-sequencing of CNS tumors, a proof-of-concept study. Acta Neuropathol. 2022 Mar 31. doi: 10.1007/s00401-022-02415-6. Epub ahead of print. PMID: 35357562.