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This symposium brought together world-leading experts in cancer research and translational medicine to showcase how nanopore sequencing technology is being utilised to identify novel disease biomarkers. From the characterisation of small biomarkers, like ctDNA and SNVs, to large structural variants and base modifications, nanopore sequencing delivers comprehensive insights into the cancer genome.

Highlights

Wigard Kloosterman: CyclomicsSeq: targeted and genome-wide detection of circulating tumor DNA using nanopore consensus sequencing

Wigard Kloosterman, Cyclomics, demonstrated how CyclomicsSeq can facilitate the detection of mutations with a frequency of at least 0.02% in cfDNA in blood. He also discussed its potential for minimally-invasive presymptomatic screening in the future.

Shruti Iyer: ACME: an Affinity-based Cas9 Mediated Enrichment method for targeted nanopore sequencing

Shruti Iyer, Cold Spring Harbor Laboratory, discussed her Affinity-based Cas9-Mediated Enrichment method for targeted sequencing. This approach shows incomparably high efficiency in on-target enrichment and can span target regions >90kb, end-to-end, in single reads.

Olivier Lucas: Nanopore in cancer research: seeing the whole picture

Olivier Lucas, Associate Director, Diagnostic Testing Solutions at Oxford Nanopore Technologies, outlines how nanopore sequencing provides access to new genomic and transcriptomic insight and an unprecedented view of the mechanisms involved in cancer progression and evolution.

Julien Masliah-Planchon: Nanopore-based exploration of brain tumours and sarcomas

Julien Masliah-Planchon, Institut Curie, discussed the potential of nanopore sequencing for characterising CNS tumours in the future. He also highlighted the benefits of adaptive sampling and simultaneous methylation profiling, CNV assessment, and fusion gene detection.

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