Oxford Nanopore evening seminar at American Society of Human Genetics (ASHG): brief summary

At this year's ASHG, nanopore data was presented in a total of 26 talks/posters, read this ASHG guide for more information.  In the evening, Oxford Nanopore hosted a seminar and gave a technical update

Evening Seminar talks

Our evening seminar heard talks from Alba Sanchis-Juan (University of Cambridge), Doruk Beyter (deCODE genetics), and Wouter de Coster & Arne de Roeck (VIB). All talks detailed their use of ultra-long nanopore reads to deconvolute large-scale changes intractable by other methods: from complex structural variation in Mendelian disease to the quantification of repeat expansion in dementia-associated genes. Discussing the requirement for long reads at high throughput for human genomics, the speakers also described their integration of PromethION instruments into their labs to service this need.

Read more about the research of VIB, Alba Sanchis-Juan.

Oxford Nanopore Technology update

Following the researchers’ lightning talks was an update from Oxford Nanopore Technologies CTO, Clive G. Brown. Clive noted that continuous improvements in nanopore sequencing have been generated by consistent updates to chemistry, algorithms, and other components to improve the platform - most recently focusing on improvements to consensus accuracy. Using the analogy of a three-horse race, Clive went on to describe the three major development strategies, namely: the development and integration of new pores with double “reader heads” (eg the new R10 pore); methods for sample modification such as “8B4” chemistry; and algorithmic improvements incorporating single base labels and quality scoring to simplify downstream analysis.  The newest nanopore, R10, is now generating high accuracy in internal R&D and further updates will follow. View tweets from the event.

Clive also reviewed a number of recent updates to throughput (while pricing has remained consistent). These included the release of 'RevD', which can deliver as much as 30Gb of data from a MinION/GridION flow cell, and further development of PromethION to deliver more than 200Gb per flow cell internally, and as much as 150Gb in the field. (To recall, PromethION is designed to run up to 48 flow cells).

Clive also recapped on other technology advances including the launch of MinIT, which can act as a preconfigured, rapid, portable data analysis accessory for MinION/Flongle, and the early access release of Flongle.