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 up to 2 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. Average quality scores remain above Q30 (99.9% raw sequencing accuracy) beyond 150 bp, with more than 85% of total bases at or above Q30. 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.

中文翻译：

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通过电检测单个碱基的结合物，在小型，可扩展的平台上进行高精度DNA测序

在过去十年中，高通量DNA测序技术得到了巨大的发展。尽管基于光学检测的测序已构成了大部分数据输出，但它需要大量的资金投入和样品的汇总才能实现每个样品的最佳成本。我们已经开发了一种新型的基于电子检测的平台，能够准确检测单个碱基的掺入。GenapSys技术及其电子检测方式使系统紧凑，易于访问且价格合理。我们通过对具有不同GC含量的几种不同微生物基因组进行测序来证明该系统的性能。该平台能够在一次运行中生成多达2 Gb的高质量核酸序列。我们通常会产生超过99％原始精度的序列数据，读取长度高达175 bp。超过150 bp时，平均质量得分保持在Q30之上（99.9％的原始测序准确度）以上，Q30或更高水平的总碱基超过85％。该平台的实用性通过人类基因组的靶向测序得到了强调。我们在人NA12878 HapMap细胞系上显示了与Illumina测序平台上生成的数据高度一致的SNP检测。此外，我们在特征明确的参考标准中对靶标的癌症相关基因进行了测序。使用此样品的多种文库制备方法，我们能够鉴定出预期的等位基因频率处的低频突变。在第30季度或以后，拥有超过85％的总碱值。该平台的实用性通过人类基因组的靶向测序得到了强调。我们在人NA12878 HapMap细胞系上显示了与Illumina测序平台上生成的数据高度一致的SNP检测。此外，我们在特征明确的参考标准中对靶标的癌症相关基因进行了测序。使用此样品的多种文库制备方法，我们能够鉴定出预期的等位基因频率处的低频突变。在第30季度或以后，拥有超过85％的总碱值。该平台的实用性通过人类基因组的靶向测序得到了强调。我们在人NA12878 HapMap细胞系上显示了与Illumina测序平台上生成的数据高度一致的SNP检测。此外，我们在特征明确的参考标准中对靶标的癌症相关基因进行了测序。使用此样品的多种文库制备方法，我们能够鉴定出预期的等位基因频率处的低频突变。我们在特征明确的参考标准中对靶定的癌症相关基因进行了测序。使用此样品的多种文库制备方法，我们能够鉴定出预期的等位基因频率处的低频突变。我们在特征明确的参考标准中对靶定的癌症相关基因进行了测序。使用此样品的多种文库制备方法，我们能够鉴定出预期的等位基因频率处的低频突变。