Workflow: Human genome assemblyLiterature
Date: 15th December 2022
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 significant 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. Epigenetic modifications
can also be explored through direct sequencing of native DNA. With high-yield
PromethION™ devices, 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 device range.