This course is designed to provide a comprehensive overview of planning, preparation, sequencing and analysis considerations for the Human Genome sequencing, taking you through the entire process of sample to answer. This course starts by introducing the end-to-end options available and considerations before beginning your experiment, and highlighting the value of Nanopore sequencing in Human genomics. This includes resource to understand extraction and DNA quality control. In the Preparation section, we introduce the latest improvements in Nanopore sequencing chemistries around the Kit V14 release. We also introduce, MinKNOW the software interface used during sequencing set up and monitoring, and correct handling of flowcells. In the Sequencing section of this course, we will walk you through the loading a flowcell, setting up a run in MinKNOW for Kit V14 and highlight where methylation detection can be enabled for users performing sequencing of native DNA. In the last section of this course, we will introduce analysis options and platforms provided by Oxford Nanopore for the analysis of your Human genomic sequencing reads and provide practical demonstrations of running analysis using our point and click solutions. For users interested in performing command line analysis, we will also introduce running our nextflow solution of the same analysis workflow, wf-human-variation.
Learning objectives
- Learn about kit V14 for the sequencing of the Human genome
- Learn about the MinKNOW configuration during sequencing set up
- Understand the data analysis options available using the EPI2ME Labs platform