A chance to watch a selection of talks from the Nanopore Community Meeting 2021 online, with live Q&A following each talk. We will hear from four scientists about their research using nanopore sequencing. The event will close with an update from Oxford Nanopore Technologies.
The agenda below is subject to change. All presentations will be given in English.
| Times below are in CST | |||
| 9:00 - 9:05 am | Welcome and Introduction | Mari Miyamoto & Yujie Yang Oxford Nanopore Technologies |
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| 9:05 - 9:30 am | The Wollemia nobilis genome: using long-read nanopore sequencing technology to study the genomic architecture of a 'living fossil' | Melissa Kramer Cold Spring Harbor Laboratory, USA |
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| 9:30 - 9:55 am | Classification of pediatric acute leukemia using full-length transcriptomics | Jeremy Wang University of North Carolina at Chapel Hill, USA |
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| 9:55 - 10:15 am | AmplideX PCR and nanopore sequencing deepens analysis and simplifies workflows for carrier screening | Sarah Statt Asuragen, a Bio-Techne Brand, USA |
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| 10:15 - 10:35 am | Nanopore sequencing updates using Q20+ and R10.4 | Miten Jain University of California, Santa Cruz, USA |
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| 10:35 - 11:00 am | An update from Oxford Nanopore Technologies | Rosemary Sinclair Dokos Oxford Nanopore Technologies |
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| 11:00 - 11:05 am | Closing remarks | Mari Miyamoto & Yujie Yang Oxford Nanopore Technologies |
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The Wollemia nobilis genome: using long-read nanopore sequencing technology to study the genomic architecture of a 'living fossil'
'Living fossils' are organisms that are able to withstand significant changes in climate and survive over extremely long periods of time, without speciation. Wollemia nobilis, a prime example of a living fossil, has existed since the early Cretaceous period but is now critically endangered. The New York Plant Genomics Consortium has sequenced the Wollemia nobilis genome using Oxford Nanopore long-read sequencing, and has generated a reference-quality genome assembly in which to study the mechanisms of survival for this stalwart conifer.
Classification of pediatric acute leukemia using full-length transcriptomics
Health centers in low- and middle-income countries lack tools required for accurate classification of acute pediatric leukemias. We show the feasibility of nanopore full-length cDNA sequencing and demonstrate a novel composite machine learning classification approach to predict acute leukemia lineage and major molecular subtypes. Based exclusively on gene expression profiles, 96.2% of lineages with prediction probabilities >0.8 are classified with 100% accuracy, along with 94.1-96.2% of major subtypes. This work demonstrates the potential of low-coverage, full-length transcriptomics to improve the accessibility and accuracy of cancer diagnosis in low-resource settings.
AmplideX PCR and nanopore sequencing deepens analysis and simplifies workflows for carrier screening
Expanded carrier screening requires both NGS and non-NGS methods due to difficulties sequencing many high-prevalence genes. We sought to streamline this approach and improve detection rates by combining both routine and challenging carrier genes within a mid-sized panel using a single-platform workflow. By pairing novel long-range AmplideX PCR with nanopore sequencing and algorithms, we demonstrate the feasibility of a technology that accurately resolves different classes of problematic genes and variants, and can expand to include hundreds of multiplexed amplicons from more conventional carrier genes. This approach has promise to address real-world gaps in carrier screening through more equitable, decentralized testing.
Nanopore sequencing updates using Q20+ and R10.4
This presentation will review improvements in nanopore read length and accuracy over the last year. Protocol improvements have translated to significantly higher throughput using PromethION ultra-long sequencing. Accuracy improvements now permit high-quality SNV calling that exceeds the performance of short reads. Furthermore, the early access Q20+ R10.4 chemistry has potential for improving indel calling as well as achieving phased human genome assemblies with Q40+ accuracy.