Softwares

Alternative Splicing and Neurologic Disorders: Long-read CaptureSeq Findings

Sofia Kudasheva from Earlham Institute in the UK spoke at London Calling 2024 about “Long-read CaptureSeq identifies novel RNA isoforms of psychiatric risk genes.” They noted that alternative splicing is “a key regulator of neuronal differentiation,” occurring in 95% of human genes and involved in disorders. The team wanted to better understand the role of […]
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Population Genomics and Gene Expression in Bullhead Benthic Fish Melanoma

Tonight, I watched the London Calling 2024 session by Julie Dragon from the University of Vermont. The title was “Shining Light on a Dark Mystery: melanoma in Bullhead Benthic Fish in Lake Memphremagog.” Dragon stated the problem: melanoma is found consistently in 30% of one species of fish in one lake! The brown bullhead is […]
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Amyloid Pathology and Synaptic Adaptation: Insights from Long-read Transcriptomics

Umran Yaman from the UK Dementia Research Institute at University College London in the UK presented at London Calling 2024 on “Long-read transcriptomics shows synaptic adaptation to amyloid pathology in Alzheimer’s.” Yaman is a Ph.D. candidate and described how the accumulation of amyloid drives microglial activation. They performed long-read sequencing of cDNA from mice. They […]
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Rapid Pathogen Detection in Wastewater: Mobile Lab Setup and Method

I’m back home! I watched the London Calling 2024 session “Mobile lab for rapid detection of pathogens in wastewater in sub-Saharan Africa” by Rea Kobialka from the Institute of Animal Hygiene and Veterinary Public Health in Germany. Kobialka demonstrated the setup of the mobile lab suitcase for wastewater analyses. The suitcase lab needs a mobile […]
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Genome Science in High-School Classrooms: Inflammation, Glutamate, and Methylation – Iolani School Study

I had heard about the work from the Iolani School during one of the Nanopore Education Beta group meetings. Tonight, I watched Ethan C. Hill, a bioinformatician with the Iolani School, and Jaymie M. Frith, a 12th-year student, present at London Calling 2024. Their session was titled “Genome science in high-school classrooms: inflammation, glutamate and […]
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From Plant to Publication: Empowering Students with Data Literacy Skills

Katharina Wolff from TU Braunschweig, Germany, presented a five-minute session at London Calling 2024 titled “Empowering scientists with data literacy skills in long-read genomic sequencing.” Wolff spoke about the variety of plants around us and empowering students to learn about plant diversity. They wanted to address the increasing availability of data and lack of data […]
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Unveiling the Elusive Nature of SCA4: Adaptive Sampling Reveals Pathogenic Repeat Expansion

Claire Anderson from the University College London in the UK presented at London Calling a short session on “Adaptive sampling reveals pathogenic repeat expansion underlying spinocerebellar ataxia.” Spinocerebellar Ataxia Type 4 (SCA4) is an autosomal dominant hereditary ataxia characterized by sensory neuropathy, explained Anderson. The locus has been linked to chromosome sixteen. Anderson and their […]
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High-Quality Genome Assembly Tools by Oxford Nanopore

We often use Oxford nanopore reads for de novo assembly of genomes and plasmids. Sean Mckenzie, Associate Director of Genomic Applications Bioinformatics with Oxford Nanopore Technologies, provided an update on assembly performance. They described de novo assembly as “the process of reconstructing an organism’s genome sequence from a set of genomic sequencing reads.” There are […]
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