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An integrated Asian human SNV and indel benchmark combining multiple sequencing methods

By Chuanfeng Huang, Libin Shao, Shoufang Qu, Junhua Rao, Tao Cheng, Zhisheng Cao, Sanyang Liu, Jie Hu, Xinming Liang, Ling Shang, Yangyi Chen, Zhikun Liang, Jiezhong Zhang, Peipei Chen, Donghong Luo, Anna Zhu, Ting Yu, Wenxin Zhang, Guangyi Fan, Fang Chen, Jie Huang

Posted 05 Sep 2019
bioRxiv DOI: 10.1101/759043

Precision medicine of human requires an accurate and complete reference variant benchmark for different populations. A human standard cell line of NA12878 provides a good reference for part of the human populations, but it is still lack of a fine reference standard sample and variant benchmark for the Asians. Here, we constructed a stabilized cell line of a Chinese Han volunteer. We received about 4.16T clean data of the sample using eight sequencing strategies in different laboratories, including two BGI regular NGS platforms, three Illumina regular NGS platforms, two linked-read libraries, and PacBio CCS model. The sequencing depth and reference coverage of eight sequencing strategies have reached the saturation. We detected small variants of SNPs and Indels using the eight data sets and obtained eight variant sets by performing a series of strictly quality control. Finally, we got 3.35M SNPs and 349K indels supported by all of sequencing data, which could be considered as a high confidence standard small variant sets for the studies. Besides, we also detected 5,913 high quality SNPs located in the high homologous regions supported by both linked-reads and CCS data benefited by their long-range information, while these regions are recalcitrant to regular NGS data due to the limited mappability and read length. We compared the later SNPs against the public databases and 969 sites of them were novel SNPs, indicating these SNPs provide a vital complement for the variant database. Moreover, we also phased more than 99% heterozygous SNPs also supported by linked-reads and CCS data. This work provided an integrated Asians SNV and indel benchmark for the further basic studies and precision medicine.

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