VCF file

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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Workflows and Tools for Assemblies and Variant Calling

Matt Attreed presented at the Nanopore Community Meeting 2022 on “How to generate assemblies and call variants.” This is a Masterclass and started by describing the resources on the Nanopore website. There is a page dedicated page on Nanopore accuracy information. The session included different workflows that process FASTQ files to SAM, BAM, and other […]
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