Human genome data available from Genomics plc/WTCHG project on nanopore technology

Company news

 

We are pleased to announce that the data generated from the joint project with the Wellcome Trust Centre for Human Genetics to sequence the human reference sample NA 12878 on nanopore technology is now being made publicly available. This follows the announcement last week at Oxford Nanopore Technologies’ New York Community Event* that Genomics plc/WTCHG were the first group to sequence and analyse multiple human genomes on nanopore technology.

Highlights from the study include:

– sequencing to 40X coverage of the extensively-studied reference human sample, NA 12878, across 47 flow cells run on up to 8 Oxford Nanopore MinION instruments in parallel;
– over 99.7% of the genome is covered by at least one read, with an overall accuracy of the genome sequence of 99.9%;
– libraries had an average molecule length of 6.5 kb, with 5% longer than 10 kb. This is despite the fact that we were not using a library prep optimised for long reads. These sequence reads enable interrogation of challenging regions of the human genome, detection of large-scale structural variation and accurate long-range phasing.

These data are now being made available for download at http://www.well.ox.ac.uk/ogc/nanopore-human-genome. Further data are being generated that will increase coverage of NA12878 to 60x, and the full dataset, including fast5 format files, will be made available soon.

The release of the R9.4 chemistry for the MinION enabled the full human genome to be sequenced on the device for the first time, and we are encouraged by the high consensus accuracy and the demonstrable utility of the long reads to resolve structural variation and phasing.

Generation and analysis of a whole human genome using nanopores are key steps in the development of the technology. We are releasing the data early in the spirit of the Fort Lauderdale agreement for the benefit of the wider community. We believe datasets like this are valuable for the community and will expedite the development of tools and analysis methods.

* http://www.genomicsplc.com/wellcome-trust-centre-for-human-genetics-and-genomics-plc-first-to-sequence-multiple-human-genomes-using-hand-held-nanopore-technology/