TY - JOUR T1 - High accuracy DNA sequencing on a small, scalable platform via electrical detection of single base incorporations JF - bioRxiv DO - 10.1101/604553 SP - 604553 AU - Hesaam Esfandyarpour AU - Kosar B. Parizi AU - Meysam Rezaei Barmi AU - Hamid Rategh AU - Lisen Wang AU - Saurabh Paliwal AU - Hamid Reza Golnabi AU - Paul Kenney AU - Richard Reel AU - Frank Lee AU - Xavier Gomes AU - Seth Stern AU - Ashok Ramachandran AU - Subra Sankar AU - Solomon Doomson AU - Rick Ung AU - Maryam Jouzi AU - Ramya Akula Suresh Babu AU - Ali Nabi AU - Nestor Castillo AU - Raymond Lei AU - Mohammad Fallahi AU - Eric LoPrete AU - Austin Kemper AU - Srijeeta Bagchi AU - Robert Tarbox AU - Pallavi Choudhary AU - Hooman Nezamfar AU - Linda Hsie AU - Nicolas Monier AU - Tyson A. Clark AU - Eric Spence AU - Fei Yang AU - Benjamin Bronson AU - Gina Sutton AU - Caterina Schweidenback AU - John Lundy AU - An Ho AU - Narin Tangprasertchai AU - Anthony Thomas AU - Brian Baxter AU - Shankar Shastry AU - Anooshka Barua AU - Yongzhi Chen AU - Hamid Hashemzadeh AU - David Shtern AU - Eugene Kim AU - Christopher Thomas AU - Patrice Tanti AU - Ali Mazouchi AU - Erden Tumurbaatar AU - Jordan Nieboer AU - Christopher Knopf AU - Hien Tram AU - Vipal Sood AU - Sam Stingley AU - Megan Cahill AU - Sid Roy AU - Ky Sha AU - Bin Dong AU - Frank R. Witney Y1 - 2019/01/01 UR - http://biorxiv.org/content/early/2019/04/16/604553.abstract N2 - High throughput DNA sequencing technologies have undergone tremendous development over the past decade. Although optical detection-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 detection-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 1.5 Gb of high-quality nucleic acid sequence in a single run. We routinely generate sequence data that exceeds 99% raw accuracy with read lengths of up to 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 targeted panel of cancer-associated genes in 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. ER -