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An integrated Asian human SNV and indel benchmark established using multiple sequencing methods.

Scientific reports - 17 Jun 2020

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

Abstract excerpt

Sequencing technologies have been rapidly developed recently, leading to the breakthrough of sequencing-based clinical diagnosis, but accurate and complete genome variation benchmark would be required for further assessment of precision medicine applications. Despite the human cell line of NA12878 has been successfully developed to be a variation benchmark, population-specific variation benchmark is still...

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PMID: 32555294
DOI: 10.1038/s41598-020-66605-6
PMCID: PMC7300012

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