The comparison of the performance of four whole genome amplification kits on ion proton platform in copy number variation detection

4种Ion Proton平台全基因组扩增试剂盒在拷贝数变异检测中性能比较

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作者:Xinyi Zhang, Bo Liang, Xiaoyan Xu, Feifei Zhou, Lingyin Kong, Jingjing Shen, Yingying Xia, Liming Xuan, Yan Mao, Yongfeng Xue, Caixia Liu, Jichun Tan

Abstract

With the development and clinical application of genomics, more and more concern is focused on single-cell sequencing. In the process of single-cell sequencing, whole genome amplification is a key step to enrich sample DNA. Previous studies have compared the performance of different whole genome amplification (WGA) strategies on Illumina sequencing platforms, but there is no related research aimed at Ion Proton platform, which is also a popular next-generation sequencing platform. Here by amplifying cells from six cell lines with different karyotypes, we estimated the data features of four common commercial WGA kits (PicoPLEX WGA Kit, GenomePlex Single Cell Whole Genome Amplification Kit, MALBAC Single Cell Whole Genome Amplification Kit, and REPLI-g Single Cell Kit), including median absolute pairwise difference, uniformity, reproducibility, and fidelity, and examined their performance of copy number variation detection. The results showed that both MALBAC and PicoPLEX could yield high-quality data and had high reproducibility and fidelity; and as for uniformity, PicoPLEX was slightly superior to MALBAC.

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