single-cell genomics

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Enhancing Single-Cell Analysis with EPI2ME

Individual cell analysis is possible with Oxford Nanopore Technologies (ONT). Matt Parker from ONT spoke about “Individual cells matter – single-cell data analysis with EPI2ME.” EPI2ME cloud was launched, and cloud-based analyses are possible. I have been testing and mentioning the new version in the Portable Genome Sequencing course. Bryan Leland, a Bioinformatics Manager with […]
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GoT-Splice as Mutations Accumulate

Mariela Cortes Lopez from the Weil Cornell Medicine and New York Genome Center presented at the Nanopore Community Meeting in Houston about “GoT-Splice: unraveling cell-type-specific impact of splicing factor mutations.” Cortes Lopez is investigating mutations in splicing factors. They started by explaining that cells accumulate mutations with age and, therefore, the genomes of cells are […]
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The IsoMix Toolkit for Long-read RNA-seq

Michael Clark from The University of Melbourne in Australia presented at London Calling 2023 the session entitled “Investigating RNA isoform expression using the IsoMix toolkit.” They have created tools for RNA isoform analyses. Clark shared an example of a human gene expressed in multiple RNA isoforms. They explained that alternative isoforms can create RNAs and […]
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Identifying Mechanisms of Venetoclax Resistance

Rachel Thijssen from the Walter and Eliza Hall Institute of Medical Research and Australia & Amsterdam University Medical Centers in the Netherlands presented at London Calling 2023 on “Single-cell long-read RNA sequencing reveals complex heterogeneity.” Thijssen spoke about the hallmarks of cancer and cells not responding to signals appropriately. BCL2 can be targeted in chronic […]
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Nanopore Sockeye

What is Nanopore Sockeye? Tonight I watched a session with Sockeye in the title and may finally learn what it does! Eoghan Harrington, a genomic applications fellow at Oxford Nanopore Technologies, presented at London Calling 2022 on “Sockeye: nanopore-only demultiplexing of single-cell reads.” They explained that there has been an explosion of single-cell applications and […]
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