sequencing

Flames and Blaze: Advancing Long-Read scRNA-seq for Brain Development Research

Mike Clark from The University of Melbourne in Australia presented at London Calling 2024 on “Igniting single-cell analysis of full-length RNA isoforms in brain development.” Clark works on RNA isoforms and developing single-cell analysis methods. They noted that almost all human genes express multiple RNA isoforms. Clark emphasized that alternative splicing modifies which exons are […]
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Understanding Drug Resistance in Multiple Myeloma: Insights from Tomas di Domenico

Tonight, I watched Tomas di Domenico from the National Cancer Research Center in Spain present at London Calling 2024 on “An (epi-)genomics analysis of drug resistance in multiple myeloma.” Di Domenico explained how multiple myeloma affects the bone marrow and thickens the blood. Multiple myeloma also causes bone issues. There are several treatments and a […]
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SamnSero Workflow: Real-time Bacterial Genome Analysis

Tonight, I watched the London Calling EPI2ME product demo: “EPI2ME: democratising bioinformatics—from point-and-click analysis to custom integrations.” Natalia Garcia, a Bioinformatics Workflow Developer with Oxford Nanopore Technologies, explained how workflows use Nextflow and Docker containers. Seventeen workflows were available at the time of the recording during London Calling. Workflows can be run via the command […]
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Long-Read Sequencing Innovations in Neurodegenerative Disease Research

Tonight, I watched the London Calling 2024 session on “breaking boundaries in neurodegenerative disease research.” Cora Vacher from Oxford Nanopore Technologies (ONT) introduced the speakers and facilitated the question and answer session. Joanne Trinh from the Institute of Neurogenetics at the University of Lubeck in Germany was the first presenter. Trinh works with a research […]
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Blood Group Genome Targeted Sequencing for Precision Typing | London Calling 2024

Morgan Gueuning from the Blood Transfusion Service in Switzerland presented at London Calling 2024 on “Targeted sequencing of the entire blood group genome by adaptive sampling.” They noted that there are over 45 blood group systems coded by fifty genes and with over 350 antigens. Precise typing and matching are essential to minimize alloimmunization. Current […]
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Long-Read Sequencing Reveals Diverse Intergenerational Epigenetic Patterns in Mice

The IPERT workshops finished today. I am tired and ready for rest. Tonight, I watched the London Calling 2024 session “Long-read sequencing reveals diverse patterns of epigenetic inheritance in mice.” Adam Davidovich, a Ph.D. student at Johns Hopkins, presented their work. They worked on studying intergenerational epigenetic patterns using a mouse model. The work involved […]
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Genomic Surveillance of Multi-Drug Resistant Organisms with Long-Read Sequencing

Today was the first day of our IPERT Summer Workshops! I also started watching London Calling 2024 videos available on the YouTube channel. I began with the session titled “Genomic surveillance of multidrug-resistant organisms based on long-read sequencing.” Fabian Landman works at the Centre for Infectious Disease Control in The Netherlands and the Dutch National […]
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Diversity and Collaboration in Science: Insights from London Calling 2024 Studio Interview

The last London Calling 2024 studio interview recording was on equity and accessibility in science. Zoe McDougall asked speakers after the day what were the highlights. Ewan Birney from EMBL-EBI was excited about the impact sequencing is having in the clinic. Jasdeep Ghataora from the University of Bristol in the UK also spoke about the […]
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The Significance of Long Reads in Determining Intronic Mutations

Today, I watched another London Calling 2024 studio interview. Zoe McDougall interviewed three speakers. Tom Walsh from the University of Washington spoke about how long reads are important to determine intronic mutations. The full locus of BRCA1 is over 100 kb, and intronic mutations can occur with significant implications. Mike Clark from the University of […]
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Healthcare Research Gaps and Innovations: London Calling 2024 Studio Interviews

Tonight, I watched another series of London Calling 2024 studio interviews. Zoe McDougall spoke to three researchers. Carika Weldon from CarGenetics in Bermuda explained the healthcare research gaps. Heather Carleton from the Centers for Disease Control and Prevention explained how poop samples can be used to detect outbreaks… including the idea of mobile sampling with […]
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