Biotechnology Bulletin ›› 2016, Vol. 32 ›› Issue (12): 58-64.

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Application of Low-coverage Whole Genome Sequencing in Detecting Chromosome Micro Variations of Single Cell

CHEN Da-yang1,ZHEN He-fu2,LIU Ping2,QIU Yong2,XIE Lin2,LIU Hong-tai1,CHEN Fang2   

  1. 1. BGI Education Center,University of Chinese Academy of Sciences,Shenzhen 518083;
    2. Beijing Genomics Institute,Shenzhen 518083
  • Received:2016-04-16 Online:2016-12-25 Published:2016-12-07

Abstract: The paper aims to study the application of low-coverage whole genome sequencing in detecting chromosome micro variations of single cell. Using 5 cell lines with positive signal and validated by aCGH as research object,the complete genome of single cell amplified by two commercial kits was sequenced by Hiseq2000;then,comparing the results by bioinformatics with those validated by aCGH. Results showed that in preliminary tests,the whole genome amplification(WGA)was successful in the 5 single cells. Following the low-coverage whole genome sequencing,they all showed the expected karyotype. While using the GenomePlex? Single Cell WGA Kit,the overlapping rate of the detection results and aCGH results was more than 80%,but there was 1 false positive signal of about 8 Mb(Megabase)in 1 sample. While using PicoPLEX? WGA Kit,the overlapping rate of the detection results and aCGH results also was more than 80%,and there was no false positive signal in detection results. The results confirmed that the method would detect the copy number variations larger than 7 Mb via the low-coverage whole genome sequencing(0.1 X).

Key words: single cell, low-coverage, chromosome variations, amplification

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