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

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 h...

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Veröffentlicht in:Sci Rep
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group UK 2020
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7300012/
https://ncbi.nlm.nih.gov/pubmed/32555294
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-66605-6
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