An updated reference human genome dataset of the BGISEQ-500 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 here we present the PE100 reads from same sample, together with the assembled genome. We also included examples of the raw images from the sequencer for reference. Finally, we carried out variation calling based on the dataset and compared that to similar amounts of publicly available HiSeq2500 data and the previously identified high confident variations in this previously sequenced genome.