Softwares

Population-level Detection of Structural Variants and their Features

Fritz Sedlazeck from Baylor COllege of Medicine & Rice University, presented at the Nanopore Community Meeting in Singapore on “Comprehensive structural and copy number variant detection: from mosaic to population-level.” Sedlazeck and their team have developed numerous tools for structural variation (SV) detection. SV, Sedlazeck noted, are fewer than SNP but have profound impacts. Long […]
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Consensus Somatic SV Calling Using Long Reads

Tonight I watched a session from the Nanopore Community Meeting in Singapore entitled “Investigating structural variations and complex cancer genomes using Oxford Nanopore sequencing” presented by Marjan Naeini from the Garvan Institute of Medical Research in Australia. Naeini described the primary classes of structural variations (SVs) as deletions, duplications, inversions, insertions, and translocations. They studied […]
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Algorithms for Long-read Analysis

Kai Ye from Xi’an Jiaotong University in China spoke at the Nanopore Community Meeting in Singapore about “Novel algorithms for long read analysis and applications.” They noted that long reads are “better for structural variant (SV) detection.” However, Ye explained that there are still challenges with long read. They converted the problem from text-based to […]
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Modeling Rare Variant Segregation

Min Wang from Murdoch Children’s Research Institute in Australia presented at the Nanopore Community Meeting in Singapore 2023 on “Variant segregation in rare disease singletons and duos using nanopore adaptive sampling.” They spoke about a method to learn about rare variants when samples from both parents are not available. When one DNA is not available, […]
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Myrtle Rust and Epitranscriptomics

Ashley Jones from The Australian National University in Australia presented at the Nanopore Community Meeting in Singapore on “Exploring post-transcriptional modifications during myrtle rust pathogen-plant interactions.” Myrtle rust is a biotrophic (needs a living plant to survive) fungus Austropuccinia psidii that infects plants in the Myrtaceae family and is spreading, according to Jones. Myrtle rust […]
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Ten Applications of Nanopore Technologies in Thailand

Thidathip Wongsurawat from the Siriraj Long-read Lab in the Mahidol University in Thailand, presented at the Nanopore Community Meeting in Singapore on “Ten case studies on the recent applications of nanopore sequencing in Thailand.” Number ten was nCNV-seq: Nanopore-based multiple copy number variation analyses. They developed the open access bioinformatics tool. Wongsurawat also spoke about […]
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PromethION Power!

Tonight I watched the Nanopore Community Meeting: Singapore 2023 session entitled “Product demo: Anyone and anything: unleashing the power of PromethION for human genomics to conservation.” Dan Fordham from Strategic Product Management, Oxford Nanopore Technologies (ONT), spoke about the capabilities of human sequencing from extraction to data. They also explained the Org.one program and how […]
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Midyear Nanopore Update

Rosemary Sinclair Dokos, the SVP of Product and Programme Management at Oxford Nanopore Technologies, presented an updated at the Nanopore Community Meeting in Singapore 2023. They considered this a mid-year update since their major updates were during London Calling 2023. Oxford Nanopore Technologies (ONT) strives for “Towards the Sequencing of Anything by Anyone Anywhere.” Sinclair […]
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NCM Singapore 2023 Applications Update

Tonight I watched Dan Turner, SVP of Applications at Oxford Nanopore Technologies (ONT) give an update from the applications team at the Nanopore Community Meeting in Singapore. Turner talked about the applications team with researchers and groups in Singapore, the UK, and a couple other locations. Turner focused on Nanopore use for Pharmacogenomics (PGx). They […]
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T2T Human Genome Assembly with Only ONT Reads

Jianjun Liu from the Genome Institute of Singapore presented at the Nanopore Community Meeting 2023 in Singapore a session entitled “Redefining telomere-to-telomere genome assembly strategy using the Oxford Nanopore platform.” They did a study in collaboration with Oxford Nanopore Technologies (ONT) to assemble a telomere-to-telomere (T2T) human genome with only Nanopore reads. Liu spoke about […]
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