Softwares

Multiplexing and Demultiplexing

Tonight I watched the November 13, 2018 recording of the “Sample barcoding: Sequencing in multiplex and Demultiplexing” Knowledge Exchange session in the Nanopore Learning Lesson Library. Julia Eales, an Application Scientist with Oxford Nanopore Technologies and Philipp Rescheneder presented. Eales spoke about the uses of multiplexing. I didn’t know that with dual-barcoding you can multiplex […]
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A Guide to Structural Variation Analysis

Today I watched the Knowledge Exchange session from Nanopore Learning about “A beginner’s guide to structural variation analysis: from discovery to basic annotation.” Steven Rudd, a bioinformatics expert at Oxford Nanopore Technologies, shared a couple of slides and then explored the structural variation tutorial. A structural variant (SV), Rudd said, is typically considered as “a […]
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Improving Genetic Testing through 1000 Genomes Project

Danny E. Miller from the University of Washington presented at the Nanopore Community Meeting in Singapore on “The 1000 Genomes Project Oxford Nanopore Sequencing Consortium: expanding our understanding of human genetic variation.” They started by comparing the medical history and testing performed on two patients. Miller shared a linear workflow for traditional genetic workup. Miller’s […]
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Structural Variant Detection and Analysis

Continuing with the Nanopore Learning course on Human Genome Sequencing and Analysis, tonight I watched the video about structural variation detection. Anthony Doran, a member of the Technical Services Team with Oxford Nanopore Technologies, defined structural variation as large structural changes in your sample compared to the reference genome. The examples Doran shared on a […]
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Nextflow and EPI2ME Labs Workflows in a Terminal

I want to learn how to use EPI2ME and EPI2ME Labs effectively. The Nanopore Learning course has several videos about EPI2ME Labs. The one I watched tonight was about “EPI2ME Labs Nextflow Workflows demonstration” by Dilrini De Silva, a Technical Applications Scientists in Bioinformatics at Oxford Nanopore Technologies. In the video, De Silva demonstrated running […]
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