The potential impact of nanopore sequencing on human genetics

Abstract

Nanopore sequencing has been available to researchers for a little over 3 years. Recently, the milestone of sequencing and assembling a human genome on this platform was achieved for the first time. Significant improvements to the platform in yield and accuracy, coupled with higher throughput nanopore sequencers, mean that human genome sequencing at scale is now possible. Here, a brief recent history of the nanopore platform is provided, key papers and innovations are highlighted and some of the challenges for the future are discussed.