Reflections

Sharing Insights about Rare Disease Research with ONT

Tonight I watched a London Calling 2023 session that was the rare disease research panel Q&A. One question was about the importance of methylation in rare diseases. Panelists were speakers from other London Calling 2023 sessions. They noted that sample type is important, as tissue and peripheral blood may be very different in terms of […]
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Direct RNA Sequencing with RNA004

We have been trying bacterial transcriptomics using Nanopore sequencing. I am particularly interested in direct RNA sequencing. Tonight I watched the London Calling 2023 session by Libby Snell, Principal Scientists/Applications at Oxford Nanopore Technologies, and Martin Smith from Sainte-Justine University Hospital Research Center in Canada. They presented a session entitled “Direct RNA sequencing update (SQK-RNA004): […]
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Long-read Sequencing Lessons from Genomics Thailand

“Filling the gap with long-read sequencing: lessons from Genomics Thailand” is the title of the London Calling session I watched tonight. The speaker was Manop Pithukpakorn from Siriraj Genomics at Mahidol University in Thailand. They spoke about the similarities of the program and Genomics England. The aim of Genomics Thailand is to implement genomics medicine […]
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Rare Disease Diagnostics with ONT and Asuragen in the UAE

Ahmad Abou Tayoun from the Al Jalila Children’s Specialty Hospital in the United Arab Emirates, presented at London Calling 2023 a session entitled “Nanopore sequencing as a potential diagnostic tool for genetic diseases in the Middle East.” They noted that “rare diseases are individually rare but are collectively common…” There are globally ~6,000 rare diseases […]
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Sequencing Alleles Involved in Undiagnosed Inherited Neuropathies

Marina Kennerson from The ANZAC Research Institute in Australia spoke at London Calling 2023 about “Solving genetically undiagnosed inherited neuropathy families: long-read sequencing to the rescue.” Inherited peripheral neuropathies (IPN), Kennerson explained, can be divided into hereditary motor neuropathies (HMN), hereditary sensory neuropathies (HSN), and hereditary motor and sensory neuropathies (HMSN). Kennerson noted that HMSN […]
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Nanopore and Ophthalmology

Tonight I watched the London Calling 2023 session by Gavin Arno from the University College London Institute of Ophthalmology, Moorfields Eye Hospital & North Thames Regional Genomics Laboratory Hub in the UK. Arno presented a session entitled “The potential clinical utility of amplicon and targeted nanopore sequencing for rare disease diagnosis.” They spoke about how […]
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Retrotransposon Insertions in Rare Diseases

Belen de la Morena-Barrio from the University of Murcia, Spain presented at London Calling 2023 on “Nanopore sequencing reveals retrotransposon insertions or complex genetic mechanisms in four rare disorders.” Morena-Barrio spoke about the impact of “rare” diseases and the challenges of diagnosis. They noted that often it takes four or five years for accurate diagnosis […]
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Nanomonsv

Yuichi Shiraishi from the National Cancer Center in Japan presented at London Calling 2023 on “Precise characterization of somatic complex structural variations from paired long-read sequencing using nanomonsv.” Shiraishi explained that long-read sequencing is effective for detecting somatic structural variations (SVs), though there are few tools for systematically detecting somatic SVs using paired tumor and […]
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Structural Variation Landscape Analysis with SAVANA

Hilary Elrick from EMBL-EBI in the UK spoke at London Calling 2023 about “SAVANA: a computational method to characterise structural variation in human cancer genomes using nanopore sequencing.” They spoke about the structural variants in cancer and how much is still unknown or understudied. Elrick studied sarcoma and glioblastoma. Sarcomas are cancers of bone and […]
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Personalized OncoGenomics Program Trials using Long-Read Sequencing

Tonight I watched the London Calling 2023 session by Kieran O’Neil from Canada’s Michael Smith Genome Sciences Centre at BC Cancer, Canada. The session title is “The potential of nanopore sequencing for personalised genomics.” They have been supporting a Personalized OncoGenomics Program (POG) that has focused on short-read whole genomes and interested in long-read sequencing […]
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