Workflow: human genome assembly

Assembling the human genome using long nanopore sequencing reads

To gain a comprehensive insight into human genetic variation, and its potential impact on disease risk, it is important to obtain fully characterised, complete genomes. Direct nanopore sequencing of native DNA generates reads of any length, which resolve structural variants (SVs) and repeats, whilst characterising epigenetic modifications. This end-to-end workflow provides a simple solution to sequence and generate human genome assemblies from a blood research sample.

In this workflow, you will:

• Find out how native DNA nanopore sequencing enhances human genome assembly
• Discover our best practice sequencing workflow in detail, starting from the recommended extraction method, through to primary analysis
• Learn about our recommended sequencing kit and devices