Workflow: Human genome assemblyLiterature
Date: 5th May 2020
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. However, the presence of large structural variants (SVs) and repeat sequences have posed a signifcant challenge to assembling the human genome to completion.
Unlike short-read sequencing, nanopore sequencing produces long and ultra-long reads, which enhance the resolution of SVs and repeats. With the high-output PromethION™ device, sequencing and assembling highly contiguous human genomes is now possible, with unprecedented efficiency.
Here we present a simple workﬂow for human genome assembly from a blood sample, using the PromethION sequencing platform.