Year: 2024

EPI2ME Analyses Anywhere

Matt Parker, the Associate Director for Clinical Bioinformatics at Oxford Nanopore Technologies, spoke at the Nanopore Community Meeting in Houston about updates to EPI2ME. The session started with a new video about EPI2ME, highlighting the intuitive interface, real-time data, and cloud or local analyses. Parker said you can take a MinION and laptop into the […]
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2023 Dorado Updates

Joyjit Daw, a Principal Machine Learning Engineer at Oxford Nanopore Technologies (ONT), provided a Dorado update at the Nanopore Community Meeting Houston meeting. The Dorado v0.5.0 release supports core Guppy features, custom barcodes, read splitting, and Minimap2 alignment. Dorado has been integrated into MinKNOW. They have also extended features such as hemi methylation for the […]
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Dog Patients, Osteosarcoma, and Severus Structural Variant Analyses

Mikhail Kolmogorov from the National Cancer Institute, NIH, spoke at the Nanopore Community Meeting Houston about “Nanopore sequencing reveals structural heterogeneity in canine osteosarcoma.” Structural variants are any alterations greater than 50 bp. These events can affect one or multiple genes… or whole chromosomes! NCI has a comparative osteosarcoma (OS) program that recruits dogs nationwide. […]
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Streamlined Nanopore Sequencing

“Reveal more: bring streamlined nanopore sequencing into your lab” is the title of the Nanopore Community Meeting Houston session I watched tonight. Rachel Rubinstein, a Technical Product Manager, explained new developments to streamline nanopore sequencing. Rubinstein emphasized “end-to-end” processes. They began describing the range of the PromethION devices, from the P2 to the PromethION 48. […]
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Carrier Analyses using ONT

Bradley Hall from Asuragen presented at the Nanopore Community Meeting in Houston. The session was titled “AmplideX PCR and nanopore sequencing for accessible carrier screening for any lab.” Hall started by stating that “everyone is a genetic carrier of a disease or condition.” There are >2000 conditions, and carrier screening is often challenging for some […]
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ONT Workflows for the GREGoR Project

Medhat Mahmoud from the Baylor College of Medicine’s Human Genome Sequencing Center presented at the Nanopore Community Meeting in Houston a session titled “Unraveling complex Mendelian diseases with nanopore sequencing.” They are in the Sedlacek lab and spoke about GREGoR: Genomics Research to Elucidate the Genetics of Rare Diseases project. GREGoR includes five research centers […]
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