transcriptomics

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Long-Read Sequencing for Rare Diseases: Clinical & Biopharma Day Highlights

The London Calling 2024 session I watched tonight was titled “Long-read sequencing for pathogenic and novel variation discovery in rare diseases.” Ahmad Abou Tayoun from the Al Jailila Children’s Specialty Hospital in the United Arab Emirates was the presenter. This session was part of the Clinical & Biopharma Day on Friday, May 24, 2024. They spoke about […]
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Uncovering Novel Peptides and Mutations: Transcriptomic Analysis of Human Cortex

We are back from the beach! Tonight, I watched Rosemary Bamford from the University of Exeter in the UK present at London Calling 2024 on “Full-length transcript atlas of the developing human cortex.” Bamford is from the Complex Disease Epigenomics Group, and they study disease-associated genomic variation. Bamford explained alternative splicing as a way of […]
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Oxford Nanopore Technologies: Advancing Research and Applications in the Next Decade

Tonight, I watched another London Calling 2024 studio interview. Zoe McDougall previously interviewed two of the three guests. Ronja Friedhoff is a master’s student at the Technische Universitat Braunschweig in Germany. They explained the benefits of networking opportunities at London Calling 2024: Friedhoff learned about new research areas and met new people. Ivo Gut from […]
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Complex Karyotype Analysis with Nanopore Sequencing

Anna Dolnik from the Charite University Medical Center in Berlin, Germany, presented at London Calling 2019 on “Genomic profiling in acute myeloid leukemia with complex karyotype.” They presented data on the survival of over 5,100 patients with acute myeloid leukemia (AML). The WHO in 2016 revised the classification of AML. A newly diagnosed AML patient, […]
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Profiling Gene Expression of Pediatric Leukemia Samples

Jeremy Wang from the University of North Carolina at Chapel Hill presented at the Nanopore Community Meeting 2021 on “Classification of pediatric acute leukemia using full-length transcriptomics.” This research was a collaboration for a pediatric oncologist also at UNC. They spoke about the variation in treatment of pediatric cancers based on local. Cellular and genetic […]
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Real-time RNA Analysis with RISER

Adaptive sampling and real-time in silico enrichment have come up frequently in the last couple of months. I still haven’t used this feature and want to learn more. Tonight I watched the London Calling 2022 session by Alex Sneddon from the Australian National University entitled “RISER: real-time in silico enrichment of RNA species from nanopore […]
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Branching Out to Sequence Single-cell Transcript Isoforms with Nanopore

Tonight I watched Sheridan Cavalier from The John Hopkins University School of Medicine present at the Nanopore Community Meeting 2022. The title of the session was “Single-cell transcript isoform sequencing of the activated adult mouse hippocampus with 10x Genomics and Oxford Nanopore.” Cavalier is a graduate student and developed an approach to sequence mouse hippocampus […]
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