long-read

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Building Capacity and Sharing Data

Tonight I watched Zoe McDougall, VP Strategic Communications and Corporate Affairs at Oxford Nanopore Technologies (ONT), interview Rich Scott and Abdul Karim Sesay at London Calling 2023. Scott is a medic with Genomics England and was excited about using single-cell sequencing to learn about tumors. Sesay is from the MRC Unit in Gambia and spoke […]
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Bambu for Transcript Discovery

Andre Sim from the Genome Institute of Singapore (A*STAR) in Singapore spoke at the Nanopore Community Meeting 2021 about “Bambu – generating context-aware transcriptomes with Oxford Nanopore long-reads.” What a cool name! Sim explained that RNA sequencing technologies have evolved, but reference annotation for transcript analysis has remained relatively unchanged. Sim noted that fragments could […]
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CaptureSeq with Long Reads and Brain Samples

Nicola Hall from the University of Oxford in the UK spoke at London Calling 2022 about “Multiplexed, long-read CaptureSeq identifies full-length transcript isoforms in the human brain.” I have been interested in CaptureSeq and this ten-minute session was intriguing. Hall and colleagues are interested in voltage-gated channels, but they have very low levels of RNA […]
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Variations in Cancer Susceptibility Identified through Long-read Sequencing

Katherine Dixon from The University of British Columbia in Canada spoke at the Nanopore Community Meeting 2022 about “Clinical and functional significance of germline variation in cancer susceptibility and disease.” Dixon spoke about the complexity of factors determining cancer. Between 15-20% of cancer show familial clustering, according to Dixon. In Canada, 300,000 are estimated to […]
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Mapping Chromosomal Translocations

“Can nanopore long-read sequencing replace current cytogenetic methods in clinical genetic diagnostics” was the title of Emilie Boye Lester’s session at the Nanopore Community Meeting 2022. Lester is from Odense University Hospital in Denmark and explained that the aim of their study was to “explore the capability of long-read whole genome sequencing to detect structural […]
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