Comparison Of Exon Sequencing Data Between Three Sequencing Platforms Of BGISEQ-500,Hiseq 4000 And Hiseq X Ten

At the beginning of 2015,the Obama administration of the United States issued the “Precision Medical Plan”.In March 2016,China's Ministry of Science and Technology also included precision medicine as a key research and development program.Precision medicine has been highly valued by the governments of China and the United States.As an important part of precision medicine,the gene sequencing industry is also very hot.However,in China,the core sequencer of gene sequencing technology mainly relies on imports.In 2017,the National Development and Reform Commission(NDRC)carried out top-level design of the gene sequencing industry,and in the "three-step" strategy,it proposed to promote the local application of self-developed sequencer and detection reagents.BGISEQ-500 is a fully owned and patented sequencer in China and an independent sequencer that has obtained clinical testing qualifications.It has a very wide and important application prospect in scientific research and clinical testing.In addition,exome sequencing technology plays a very important role in monogenic disease,complex diseases and tumor research.This article explores the performance of exome sequencing technology on sequencing data on BGISEQ-500,Hiseq 4000 and Hiseq X Ten sequencing platforms,on the one hand provides a certain choice of sequencer for the majority of scientific and medical researchers in exon-related research,on the other hand,has also further promoted the process of localization and autonomy of China's sequencer.In this study,the DNA extracted from the human cell line G001(NA12878)released by the widely used "Bottle Genome" consortium was used for testing.In addition,we use the BGISEQ-500 exon construction process and the Hiseq exon construction process to build the library.Using the BGI Exome V4 probe to perform exon capture and use the BGISEQ-500,Hiseq 4000,and Hiseq X Ten sequencers for sequencing after library building respectively.After the success of sequencing,the original data was processed,and then we evaluated the data by advanced information analysis methods.We compare the parameters such as the exon capture sequencing quality and mutant site of the three sequencing platforms to verify the accuracy and sensitivity of the exon sequencing of the BGISEQ-500 platform.Finally,we use 30 volunteers' DNA for BGISEQ-500 platform exon sequencing to verify the stability of the platform.Through experimental tests,the analysis results showed that the main analysis parameters of exome sequencing of the three sequencing platforms BGISEQ-500,Hiseq 4000 and Hiseq X Ten are similar.Large differences in mutation detection,compared with the Hiseq 4000,Hiseq X Ten,the SNP detection accuracy and sensitivity of BGISEQ-500 sequencer is relatively high,but the InDel detection accuracy is low.In addition,the stability test also showed that the sequencing quality of the BGISEQ-500 sequencing platform is stable.