Reflections

Pharmacogenomics in the Era of Long-read Sequencing and Adaptive Sampling

Koen Deserranno from Ghent University in Belgium presented a lightning talk at London Calling 2023. The title was “Advancing targeted haplotyping in pharmacogenomics using adaptive sampling.” For example, they explained that pharmacogenomics studies the genetic impact on drug efficiency. There is a need for long-read sequencing for some pharco genes. The current pharmacogenomics information, Deserranno […]
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Development of a Nanopore-friendly Carrier Screening Test

I started watching the “Onsite lighting talks at London Calling 2023” playlist. Bradley Hall from Asuragen in the USA presented “The dark side of carrier screening: illuminating hard-to-decipher genes in common genetic disorders with nanopore sequencing.” Hall explained how carrier screening has evolved and the number of gene targets included in different screens. Hall emphasized […]
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Detecting the Epigenome with ONT

Chen Yong from Oxford Nanopore helped facilitate the Knowledge Exchange session I watched tonight: “Decoding the epigenome with Oxford Nanopore real-time methylation detection.” This webinar was recorded. Sayonika Mohanta from ONT explained that methylation is central to gene expression. They spoke about the role of methylation in gene expression: her or hypo methylation can affect […]
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A Nanopore-based Approach to Detect and Analyze Repeat Anomalies

Hagar Mor-Shaked from the Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, presented a lightning talk at London Calling 2023. The title of the session is “Pathological short tandem repeats analysis by long-read sequencing in affected individuals.” They were also an employee of the Geneyx company that did genomic analysis. Mor-Shaked spoke […]
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Targeted Sequencing for Immune Escape Detection

Tonight I watched the session by Alyssa Barry from Deakin University in Australia. They presented on “Targeted nanopore sequencing using hybridisation probes reveals immune escape polymorphisms in malaria vaccine candidates.” Barry mentioned this work was done by a Ph.D. student in their lab. Barry spoke about malaria vaccines and the challenges with immune escape. The […]
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Cotton Germplasm Sequencing

Babita Singh from the CSIR National Botanical Research Institute in India presented at London Calling 2023 on “Exploring targeted genetic diversity in the core Indian cotton germplasm using Oxford Nanopore platforms.” Singh spoke about the importance of cotton and that they are “unicellular epidermal trichomes of ovules.” Singh explained that the top cotton-producing countries are […]
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Rapid Chromosome Evolution in Gibbons

Gabrielle Hartley from the University of Connecticut presented at London Calling 2023 a lightning talk. The session’s title is “Telomere-to-telomere nanopore-based genome assembly reveals genomic and epigenetic features of karyotype radiation.” Hartley is a graduate student and is studying the evolution of gibbons. They noted that, unlike other apes, gibbons “have highly rearranged karyotypes concomitant […]
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Use of Long-read Sequencing in a Contract Food Laboratory

Andrzej A. Benkowski from Eurofins Microbiology Laboratories in Madison, WI, presented at London Calling 2023 a lightning talk on the “Practical uses of nanopore long-read sequencing in a high-throughput contract food laboratory.” They presented a few case studies from the contract lab. The first case study was from a client who experienced an increase in […]
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Mitochondrial Genome Sequencing Reveals Variants

“Single-cell full-length nanopore sequencing for quantitative variant analysis of native and genome-edited mitochondria” is the title of the London Calling 2023 lightning talk I watched tonight. The presenter was Mo Li from King Abdullah University of Science and Technology (KAUST) in Saudi Arabia. Li spoke about the human mitochondrial genome (mtDNA) and the challenges in […]
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