Mathilde Filser from the Curie Institute in France presented at the Nanopore Community Meeting in Boston. The title of the session was “Transforming cancer care: redefining cancer characterization and predisposition insights through nanopore sequencing.” They study tumors and spoke about using nanopore sequencing for variant analysis. They used nanopore and adaptive sampling. They prepared libraries with kit LSK 114. The library was injected and adaptive sampling set for basecalling. The workflow enriched for one chromosome regions. They used the NanoCIID platform. Filser shared data from variant classification. Simultaneous methylation and fusion detection was performed. Filser shared some results from a bulky right hemispheric tumor from a one-year-old: adaptive sampling helped estimate the copy number. The information obtained allowed them to find a fusion. In a second example, Filser shared the results of 16S sequencing. Filser concluded with an example of medulloblastoma analysis with nanopore sequencing. In this example, they performed whole genome sequencing and compared arranges. The comparison of the Illumina EPIC microarray to ONT helped validate results and help develop a protocol. The preliminary results are promising and comparable to the current gold standard. Filser said that ONT sequencing could revolutionize patient management through a personalized approach at both the germline and tumor levels.
