Month: July 2023

Improving Phasing Methods

What a busy day! We tried VolTRAX and Miro library preps today as part of the PORES workshop. We also did DNA extractions, a Miroculus workshop, and lots of moving around. Tonight I watched the London Calling 2023 session entitled “MethPhaser: automated methylation-based haplotype phasing of human genomes with Oxford Nanopore sequencing” with Fritz Sedlazeck […]
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Genome-wide Methylation Evaluation for Genetic Diagnosis

Miranda Galey from the University of Washington spoke at London Calling 2023 about “MeOW: genome-wide identification of differentially methylated regions using Oxford Nanopore long-read sequencing data.” Galey explained how long-read sequencing can shorten the time to diagnosis. The noted that methylated nucleotides have different current patterns that can be detected. The advantage of long-read sequencing […]
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Heterogeneity in Methylation Patterns

Tonight I watched the London Calling 2023 session entitled “Genome-wide single-molecule analysis of DNA methylation by nanopore sequencing reveals heterogeneous patterns” presented by Lyndsay Kerr from the University of Edinburgh in the UK. They spoke about the novel way of analyzing methylation patterns from single-molecule reads. Kerr explained that DNA methylation is a “repressive epigenetic […]
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Single-cell Mutation Profiling and Engineering

“A single-cell approach to cancer mutation discovery and CRISPR phenotypic modeling” was the title of the London Calling 2023 session by Hanlee Ji from Stanford University. Ji spoke about the use of single cell genomics and variant analysis. They spoke about how cancer mutations and clonal variation can be detected. In addition, CRISPR technologies allow […]
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Nanopore Sequencing for Equitable One Health

Lara Urban from the Helmholtz AI Institute, Helmholtz Pioneer Campus, & the Technical University of Munich in Germany spoke at London Calling 2023 about “Real-time genomics for One Health.” They explained that the concept of One Health is that the health of everything on our planet is interrelated. Urban explained how nanopore sequencing can unlock […]
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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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