Month: April 2023

Screening for Klinefelter Syndrome

Anne Kristine Schack from the University of Copenhagen and gMendel, Denmark spoke at London Calling 2022 about “A novel assay based on Oxford Nanopore technology for potential mass screening of Klinefelter syndrome.” They explained that Klinefelter Syndrome is a genetic disorder in which there is an additional X chromosome and it affects one in 500 […]
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Direct RNA Sequencing and Quantification with NanoCount

Josie Gleeson from the University of Melbourne, Australia presented at London Calling 2022 the ten-minute session entitled “Accurate expression quantification from nanopore direct RNA sequencing with NanoCount.” I am really interested in learning about transcriptomics with Nanopore devices and didn’t know about NanoCount. Gleeson spoke about how “long-read sequencing with Oxford Nanopore Technologies (ONT) can […]
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At Home Mitogenomes

“Affordable de novo generation of fish mitogenomes using amplification-free targeted enrichment and deep sequencing of long fragments” is the title of the London Calling 2022 session by Ana Ramon-Laca from NOAA Fisheries and the University of Washington that I watched tonight. They began by talking about eDNA surveys and metabarcoding tools to survey environments. Ramon-Laca […]
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Sequencing to Safeguard the Kākāpō

Continuing with London Calling 2022 recordings, tonight I watched Marissa Le Lec from the University of Otago in New Zealand and Lara Urban from Helmholtz Munich, Germany speak about “Portable real-time sequencing to safeguard critically endangered wildlife.” They spoke about mammalian predators including domestic cats affecting bird diversity. Le Lec spoke about the kākāpō, a […]
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Ultra-rapid Nanopore Sequencing for Diagnosis

Tonight I watched John E. Gorzynski and Sneha D. Goenka from Stanford University present at London Calling 2022. Their fifteen-minute presentation entitled “Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing” was packed with information even though it was an informal session. This was an in-person session last year. Gorzynski is a postdoctoral scholar […]
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Differentially Methylated Regions and Acute Myeloid Leukemia

Alberto Magi from the University of Florence, Italy presented at London Calling 2022 a session called “Exploring the genomic and epigenomic landscape of acute myeloid leukemia with nanopore sequencing.” They spoke about the impact of acute myeloid leukemia and how they use patient samples to study this disease. They took three patient samples and timepoints […]
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Point-of-care Metagenomics with ONT

Tonight I watched Madjid Morsli from the Mediterranean Infection Foundation and & Aix-Marselle University in France present at London Calling 2022 on “Point-of-care, real-time, metagenomics-based pathogen genome detection of life-threatening community-acquired meningitis.” They spoke about infectious bacterial meningitis and how the genotype of the pathogen affects prognosis. Morsli noted that at least 200 pathogens have […]
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CyclomicsSeq

jeroen de Ridder from Cyclomics and the University Medical Center Utrecht in the Netherlands presented “CyclomicsSeq: targeted and genome-wide detection of circulating tumor DNA using nanopore consensus sequencing” at London Calling 2022. They spoke about monitoring of treatment response and disease recurrence and avoiding invasive procedures. For this, they focused on cell-free tumor DNA: cfDNA […]
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