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. 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.