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

Abstract

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

CLC Number:

10.13560/j.cnki.biotech.bull.1985.2016.12.011

CHEN Da-yang,ZHEN He-fu,LIU Ping,QIU Yong,XIE Lin,LIU Hong-tai,CHEN Fang. Application of Low-coverage Whole Genome Sequencing in Detecting Chromosome Micro Variations of Single Cell[J]. Biotechnology Bulletin, 2016, 32(12): 58-64.

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