BGISEQ-500 human genome-wide resequencing data released.

Biotechnology Channel News: On April 5, 2017, the first human genome resequencing data related article of the BGISEQ-500 sequencing platform, jointly completed by Huada Gene, China Food and Drug Inspection Research Institute (NIFDC) and the Hubei Medical Device Quality Supervision and Inspection Center of the State Food and Drug Administration, was published in the open journal GigaScience.
article was objectively and independently reviewed by experts from the National Institute of Standards and Technology (NIST) and provided raw FASTQ data and sequencing raw image information for researchers to download and evaluate, increasing the authority and transparency of the data.
present paper publishes human genome-wide sequencing data for BGISEQ-500 PE100 and PE50, selected from a widely used "genome in a bottle" alliance published by the Human Cell Line HG001 (NA12878).
the researchers selected the data set of HiSeq2500 PE150 of the same amount of data, and compared the three sets of data of the two platforms in terms of sequencing quality, comparison results and variation detection by conventional analysis and statistical methods.
results showed that the BGISEQ-500 PE100 and HiSeq2500 PE150 sets of data had higher ratios, similar genomic coverage, and variation detection results.
, the BGISEQ-500 platform data is comparable to the HiSeq2500 platform data strength.
, however, the current Sequencing cost of the BGISEQ-500 is only one-third of that of the HiSeq2500, indicating that the new sequencing platform will have good application prospects in scientific and clinical applications.
With the development of new technologies, the Sequencing quality, speed and volume of the BGISEQ-500 will be greatly improved, and the development of sequencing reading length, different insertion fragments, and analytical software will certainly improve the overall performance of the data.
Huang Jie, one of the first authors of the paper, from the China Food and Drug Inspection Research Institute, said: "This release of the human resequencing reference data set demonstrates the data performance capabilities of the current BGISEQ-500 sequencing platform, proving that the BGISEQ-500 as the first mass-produced domestic sequencer has the same ability to produce high-quality data as other manufacturers' sequencers."
" This sequencing data is the first BGISEQ-500 sequencing platform reference data set published by Huada Gene, which hopes to promote the development of new technologies and software through the release of such reference data sets, more rapid and accurate analysis of BGISEQ-500 sequencing data, and promote the further development of second-generation high-volume sequencing and analysis technology.
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