Electrical detection of single base incorporations enables high accuracy DNA sequencing on a small, scalable platform

High throughput DNA sequencing technologies have undergone tremendous development over the past decade. Although optical-based sequencing has constituted the majority of data output, it requires a large capital investment and aggregation of samples to achieve optimal cost per sample. We have developed a novel electronic-based platform capable of accurately detecting single base incorporations. The GenapSys technology with its electronic detection modality allows the system to be compact, accessible, and affordable. We demonstrate the performance of the system by sequencing several different microbial genomes with varying GC content. The platform is capable of generating more than 1 Gb of high-quality nucleic acid sequence in a single run. We routinely generate sequence data that exceeds 99% accuracy with read lengths of 100-175 bp. The utility of the platform is highlighted by targeted sequencing of the human genome. We show high concordance of SNP detection on the human NA12878 HapMap cell line with data generated on the Illumina sequencing platform. In addition, we sequenced a panel of cancer-associated genes targeted from a well characterized reference standard. With multiple library preparation approaches on this sample, we were able to identify low frequency mutations at expected allele frequencies.