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Chinese Journal of Clinical Laboratory Management(Electronic Edition) ›› 2020, Vol. 08 ›› Issue (01): 18-25. doi: 10.3877/cma.j.issn.2095-5820.2020.01.004

Special Issue:

• Clinical Research • Previous Articles     Next Articles

Performance comparison of three human exome capture systems

Feifei Liu1, Mingming Sun2, Changming Hu3, Xiaohua Ou3, Weiwei Zhao1()   

  1. 1. Clinical Genome Center, Kingmed Center for Clinical Laboratory, Guangzhou 510005, China; Guangzhou Kingmed Diagnostics Group, Guangzhou 510005, China
    2. Clinical Genome Center, Kingmed Center for Clinical Laboratory, Guangzhou 510005, China; Guangzhou Kingmed Diagnostics Group, Guangzhou 510005, China; Clinical Genome Center, Kingmed Center for Clinical Laboratory, Guangzhou 510005, China
    3. Clinical Genome Center, Kingmed Center for Clinical Laboratory, Guangzhou 510005, China
  • Received:2019-09-20 Online:2020-02-28 Published:2020-02-28
  • Contact: Weiwei Zhao

Abstract:

Objective

To establish the standard operating procedure for whole exome sequencing (WES), we present a comparison of three probes of different commercial exome capture platforms.

Methods

Genome DNA were extracted from human blood or FFPE slices, then fragmentation by enzyme. Fragments from each sample were ligated with dual-indexed adapters, and target genes were captured by liquid phase probe. Target genes were sequencing by NextSeq 500, and raw data was analyzed by bioinformatics for target region coverage, capture specificity and variations detection.

Results

In our investigation, IDT and MedExome showed great coverage of CCDS and Refseq. All the three systems showed great coverage of target region. IDT showed the best capture specificity. Human Exome showed the best capability of variations detection.

Conclusion

Each of the three human exome capture probes have their advantages.

Key words: Exome, Multilocus sequence typing, Bioinformatics

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