Products & Services
Applications

Applications

Nanopore sequencing offers advantages in all areas of research. Our offering includes DNA sequencing, as well as RNA and gene expression analysis and future technology for analysing proteins.

Learn about applications
View all Applications
Resources
News Explore
Careers Contact

Benedict Paten

Efficient de novo assembly of telomere-to-centromere human genomes

50% improvement in NG50 of the nanopore human genome assembly was achieved with current Shasta v0.4 vs. the original Shasta version – from ~20 Mb to ~30 Mb; with ultra-long reads this almost doubled to ~58 Mb.

Human genome assembly time reduced to ~3h with current Guppy basecaller and Shasta v0.4, compared to 6h originally described in their Nature Biotech. publication.

Benedict: “with Shasta and PromethION sequencing, we think that we are achieving efficient, cost-effect, highly contiguous de novo assembly, and making that a practical reality”.

With ultra-long nanopore sequencing, telomere-to-centromere chromosome arm assembly is possible for the majority of chromosome arms.

With their diplotyping pipeline, SNV calling performance ‘was actually better than [on] short-read [data]...which is really exciting’.

Benedict: ‘in regions that are defined as low mappability, we clearly have an advantage’; short-read data maps less well than nanopore data, explaining the poorer SNV calling.

This is the first demonstration that long-read diplotyping can outperform short-read genotyping.

Introducing the Human Pangenome project, Benedict explained: ‘Genomics is failing on diversity – we need to increase the number of complete genomes that we have from a diversity of different human populations, to more fully understand our genetic heritage’.

Open a chat to talk to our sales team