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Transforming hereditary cancer sequencing with adaptive sampling target enrichment


Approximately one in 10 cancers are linked to inherited gene mutations. While key hereditary cancer risk genes are routinely screened, standard-of-care panels often miss complex structural variants, pseudogenes, and epigenetic changes.

This webinar brings together Tom Walsh and Luiza Steffens Reinhardt, two researchers who are using Oxford Nanopore sequencing and adaptive sampling technology to address these limitations.

Watch the video to learn:

  • How any-length Oxford Nanopore sequencing reveals hidden variants missed by short-read methods, providing novel answers in hereditary cancer.

  • How nanopore sequencing can help overcome sequencing hurdles in Lynch syndrome, including resolving difficult genes like PMS2/PMS2cl and detecting complex structural and epigenetic changes.

  • Researchers are applying adaptive sampling and paired DNA/RNA sequencing to uncover novel variants and open up new future possibilities for hereditary cancer testing.

Authors: Luiza Steffens Reinhardt (Clinical Research Fellow, NSW Health Pathology), Tom Walsh (Research Professor of Medical Genetics, University of Washington), Ellie Juarez (Associate Director, Segment Marketing — Oncology, Oxford Nanopore Technologies)

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