The PE150 reference human genome dataset of the BGISEQ-500 and NovaSeq6000 sequencer

The BGISEQ-500 is a new desktop sequencer developed by BGI. Using DNA nanoballs (DNB) and combinational probe-anchor synthesis (cPAS) developed from Complete Genomics sequencing technology, it generates short reads at a large scale, which can help fulfill the growing demands for sequencing. Here, we present the first human whole genome sequencing dataset from the BGISEQ-500. The dataset was generated by sequencing the widely-used Genome in a Bottle Consortium cell line, HG001 (NA12878). We have previously released the paired end 50bp (PE50) sequences (DOI:10.5524/100252) and paired end (PE100) sequences (DOI:10.5524/100274). Now we present the PE150 reads from same sample and library protocol, together with the PE150 PCR library of Illumina new sequencer. We also included the base and quality distribution figures of the new datasets. Moreover, we refined the variation calling parameters based on the new and previously dataset and compared that to similar amounts of publicly available NovaSeq6000 data from Illumina BaseSpace Sequence Hub.

BGISEQ-500是由华大基因（BGI）开发的新型桌面测序仪。该仪器采用基于Complete Genomics测序技术开发的DNA纳米球（DNA nanoballs, DNB）与组合探针锚定合成（combinational probe-anchor synthesis, cPAS）技术，可大规模生成短读长序列，助力满足日益增长的测序需求。本文首次发布BGISEQ-500平台产生的人类全基因组测序数据集。该数据集通过对瓶中基因组联盟（Genome in a Bottle Consortium）广泛使用的细胞系HG001（NA12878）进行测序获得。我们此前已发布双端50碱基对（PE50）序列（DOI：10.5524/100252）与双端100碱基对（PE100）序列（DOI：10.5524/100274）。现发布同一样本及文库方案产生的双端150碱基对（PE150）读长序列，同时包含Illumina新型测序仪的PE150 PCR文库数据。我们还提供了新数据集的碱基及质量分布图表。此外，我们基于新数据集与既往数据集优化了变异检测参数，并将其与Illumina BaseSpace序列中心公开可得的等量NovaSeq6000数据进行了比较。