Mark Housley

50 Comparative evaluation of long- and short-read methylation-aware sequencing for CNS tumour diagnostics

Simon Deacon, Inswasti Cahyani, Nadine Holmes, Graeme Fox et autres

Abstract Introduction DNA methylation–based classification has transformed the diagnosis of central nervous system (CNS) tumours. However, methylation profiling alone is insufficient for definitive diagnosis and must be integrated with genomic alterations such as single nucleotide variants, structural variants, and gene fusions. Molecular …

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ROBIN: A unified nanopore-based assay integrating intraoperative methylome classification and next-day comprehensive profiling for ultra-rapid tumor diagnosis

Simon Deacon, Inswasti Cahyani, Nadine Holmes, Graeme Fox et autres

BACKGROUND: Advances in our technological capacity to interrogate CNS tumor biology have led to the ever increasing use of genomic sequencing in diagnostic decision making. Presently, CNS tumors are classified based on their epigenetic signatures, leading to a paradigm shift in diagnostic …

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Prospective, multicenter validation of a platform for rapid molecular profiling of central nervous system tumors

Areeba Patel, Kirsten Göbel, Sebastian Ille, Felix E. Hinz et autres

Molecular data integration plays a central role in central nervous system (CNS) tumor diagnostics but currently used assays pose limitations due to technical complexity, equipment and reagent costs, as well as lengthy turnaround times. We previously reported the development of Rapid-CNS2, an …

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ROBIN: A unified nanopore-based sequencing assay integrating real-time, intraoperative methylome classification and next-day comprehensive molecular brain tumour profiling for ultra-rapid tumour diagnostics

Simon Deacon, Inswasti Cahyani, Nadine Holmes, Graeme Fox et autres

Abstract Background Advances in our technological capacity to interrogate brain tumour biology has led to the ever-increasing use of genomic sequencing in routine diagnostic decision making. Presently, brain tumours are routinely classified based on their epigenetic signatures, leading to a paradigm shift …

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Versatile, accessible cross-platform molecular profiling of central nervous system tumors: web-based, prospective multi-center validation

Felix Sahm, Areeba Patel, Kirsten Göbel, Felix E. Hinz et autres

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