Comprehensive analysis of human variants and cancer genomes with multi-omic nanopore sequencing
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Widespread genomic aberrations are a hallmark of many cancer types. Despite their contribution to oncogenesis, the identification of complex driver events such as structural variants (SVs) in cancer remains challenging. During this webinar Mikhail Kolmogorov, (Tenure-Track Stadtman Investigator, National Cancer Institute) will present how he developed an efficient and scalable workflow that generates state-of-the art small variant calls, structural variant calls and de novo assemblies from a single PromethION Flow Cell. Then, Etienne Raimondeau (Technical Product Manager, Oxford Nanopore Technologies) will share a comprehensive overview of simple and efficient end-to-end human workflows for nanopore sequencing.
Webinar attendees will learn how to:
- Access new genomic and transcriptomic information
- Detect SVs and methylation, to perform de novo assembly
- Optimise performance and complete sequencing in a timely manner
Please note, this webinar will be broadcast at 3pm (GMT)/ 10am (EST)
Meet the speakers
Long-read sequencing technologies substantially overcome the limitations of short-reads but have not been considered as a feasible replacement for population-scale projects, being a combination of too expensive, not scalable enough or too error-prone. We developed an efficient and scalable wet lab and computational protocol called Napu that generates state-of-the art small variant calls, structural variant calls and de novo assemblies from a single PromethION Flow Cell output.
Compared to germline structural variation observed in healthy individuals, cancer genomes often show more cryptic patterns of somatic rearrangements. We therefore developed a complementary approach called Severus for long-read analysis of cancer genomes. Using multi-omics sequencing of five cancer cell lines and their matching normals, we show that Severus outperforms other short- and long-read based tools in sensitivity and precision and can accurately detect complex rearrangements such as chromothripsis, chromoplexy, and breakage-fusion-bridges amplifications.
Long-read sequencing technologies substantially overcome the limitations of short-reads but have not been considered as a feasible replacement for population-scale projects, being a combination of too expensive, not scalable enough or too error-prone. We developed an efficient and scalable wet lab and computational protocol called Napu that generates state-of-the art small variant calls, structural variant calls and de novo assemblies from a single PromethION Flow Cell output.
Compared to germline structural variation observed in healthy individuals, cancer genomes often show more cryptic patterns of somatic rearrangements. We therefore developed a complementary approach called Severus for long-read analysis of cancer genomes. Using multi-omics sequencing of five cancer cell lines and their matching normals, we show that Severus outperforms other short- and long-read based tools in sensitivity and precision and can accurately detect complex rearrangements such as chromothripsis, chromoplexy, and breakage-fusion-bridges amplifications.
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Mikhail Kolmogorov, Tenure-Track Stadtman Investigator, National Cancer Institute)
Pascal Laurent, Commercial Marketing Manager, CSP & Core Lab Programmes, Oxford Nanopore TechnologiesPascal Laurent heads up the Core Lab and CSP Programme in EMEAI and APAC.
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Dr. Etienne Raimondeau, Technical Product Manager, Oxford Nanopore TechnologiesEtienne Raimondeau is a Technical Product Manager within the Product Management team at Oxford Nanopore and is responsible for their range of sample and library preparation kits. He has a PhD in Biochemistry and over a decade of laboratory experience developing and optimising assays and workflows.
