Human Genome on a MinION

Oxford Nanopore announces today the result of our first attempt to sequence a human genome using the portable MinION device.

Human Genome Data using nanopore technology will be released soon.

In the meantime, preliminary analysis of this first genome gives the following metrics:

  • Oxford Nanopore sequenced the HapMap sample NA12878 on the MinION Mk1B, using upgraded kits and Flow Cells that have been released to MinION users this week.
  • 5 Flow Cells provided > 11x coverage. Total cost of these runs was $2,750*
  • One Flow Cell provided 2.4x coverage of mapped reads. It produced 8.7Gb in 48 hours and approximately 90% of bases were alignable by BWA (96% of reads).
  • Fragment lengths were determined by the commercial HapMap sample, and Oxford Nanopore anticipates repeating the runs on longer fragment custom preps imminently, targeting de novo assembly and assessment of structural variation.
  • A total of 30x coverage of mapped reads has been generated using a total of 14 Flow Cells. Approximately 96% of the genome was covered at 10x or more. We anticipate that coverage will be even more uniform when longer-fragment PCR-free libraries are sequenced
  • The longest run on any of the Flow Cells was 48 hours.  Data could be collected faster by using more Flow Cells at the same time, if needed.

New kits and Flow Cells to provide users with 5-10Gb per MinION Flow Cell started shipping on 17th October 2016.  Oxford Nanopore anticipates further throughput gain on the MinION Flow Cells in the near future, with 40G per Flow Cell being the theoretical maximum at full efficiency. At this yield, 1-2 Flow Cells may be sufficient to sequence a full human genome at <$1000, fully costed and on the day of completion.

The high-throughput, high-sample number PromethION is designed to offer 280x as much sequencing power as MinION, but in a modular on-demand format. It is now shipping into Early Access.

Oxford Nanopore is at Booth #723 at ASHG this week, showing MinION, PromethION and VolTRAX.  The PromethION Early Access Programme queue is building quickly – come and talk to us, or if you aren’t at ASHG then get in touch for more information.

*This price assumes that a user is paying $500 per flow cell. Library preparation kit costs are ~$50 per flow cell (a $100 library is sufficient for two Flow Cells). $2750 for 5 Flow Cells gave 11x coverage. There is no capital cost for a MinION; A MinION starter pack costs $1,000 and includes the MinION, two flow cells, kits and community support.