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High Quality

The test data used the human sample NA12878 (Genome in a Bottle) - which is currently considered the most well-studied diploid human genome in the world - and released a high confidence mutation set as an important tool to understand the performance of sequencer. The HiSeq X Ten platform data was downloaded from the Illumina official website. The analysis of both platforms was rigorously analyzed using the recommended procedures of GATK Best Practices.

High sequencing quality

The standard samples were technically replicated three times in different lanes in the different sequencer of BGISEQ-500, and the average Q value was higher:

Q20>96%,Q30>85%

High ratio, high coverage, low repetition rate

WGS data generated by BGISEQ-500 can find more mutations, which could help to find low-frequency and rare disease mutations, obtaining more comprehensive genome variation information.

Variation results with high accuracy, high sensitivity and high consistency

Sensitivity and Precision means that the BGISEQ-500 platform is more capable of detecting mutations and has a high probability of detecting a true mutation.