Overview: whole human genome sequencing on PromethION
This overview introduces a protocol for the sequencing and analysis of variants across a whole human genome, using a PromethION to deliver high sequencing output without the need to interact with the sequencing device once the sample is loaded. Ideal for those who are newer to nanopore sequencing or wish to minimise hands-on time, this end-to-end method generates sequencing data with a read length N50 of ~10 kb and does not require washing or re-loading of fresh library during sequencing — enabling a simple and flexible workflow producing high outputs of nanopore sequencing data.
This protocol can be used to detect single nucleotide variants (SNVs), copy number variants (CNVs), short tandem repeats (STRs), and structural variants (SVs) across the genome. In addition, because nanopore sequencing does not require amplification, native DNA modifications such as methylation can be detected with no additional library prep.