Integrative analyses of maternal plasma cell-free DNA nucleosome footprint differences reveal chromosomal aneuploidy fetuses gene expression profile von Zhang, Min, Li, Kun, Qu, Shoufang, Guo, Zhiwei, Wang, Yuanli, Yang, Xu, Zhou, Junhua, Ouyang, Guojun, Weng, Rongtao, Li, Fenxia, Wu, Yingsong, Yang, Xuexi

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Development of preimplantation genetic testing for monogenic reference materials using next-generation sequencing von Zhao, Weihua, Song, Yanyan, Huang, Chuanfeng, Xu, Shan, Luo, Qi, Yao, Runsi, Sun, Nan, Liang, Bo, Fei, Jia, Gao, Fangfang, Huang, Jie, Qu, Shoufang

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Haplotype-resolved Chinese male genome assembly based on high-fidelity sequencing von Yang, Xiaofei, Zhao, Xixi, Qu, Shoufang, Jia, Peng, Wang, Bo, Gao, Shenghan, Xu, Tun, Zhang, Wenxin, Huang, Jie, Ye, Kai

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

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BDdb: a comprehensive platform for exploration and utilization of birth defect multi-omics data von Zhang, Dengwei, Zhou, Si, Zhou, Ziheng, Jiang, Xiaosen, Chen, Dongsheng, Sun, Hai-Xi, Huang, Jie, Qu, Shoufang, Yang, Songchen, Gu, Ying, Zhang, Xiuqing, Jin, Xin, Gao, Ya, Shen, Yue, Chen, Fang

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Robust Benchmark Structural Variant Calls of An Asian Using State-of-the-art Long-read Sequencing Technologies von Du, Xiao, Li, Lili, Liang, Fan, Liu, Sanyang, Zhang, Wenxin, Sun, Shuai, Sun, Yuhui, Fan, Fei, Wang, Linying, Liang, Xinming, Qiu, Weijin, Fan, Guangyi, Wang, Ou, Yang, Weifei, Zhang, Jiezhong, Xiao, Yuhui, Wang, Yang, Wang, Depeng, Qu, Shoufang, Chen, Fang, Huang, Jie

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Influence of low tumor content on tumor mutational burden estimation by whole‐exome sequencing and targeted panel sequencing von Zhang, Wenxin, Wang, Ruixia, Fang, Huan, Ma, Xiangyuan, Li, Dan, Liu, Tao, Chen, Zhenxi, Wang, Ke, Hao, Shiguang, Yu, Zicheng, Chang, Zhili, Na, Chenglong, Wang, Yin, Bai, Jian, Zhang, Yanyan, Chen, Fang, Li, Miao, Chen, Chao, Wei, Liangshen, Li, Jinghua, Chang, Xiaoyan, Qu, Shoufang, Yang, Ling, Huang, Jie

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Restriction endonuclease‐mediated real‐time digestion‐PCR for somatic mutation detection von Zhao, Jinyin, Xie, Feifei, Zhong, Wei, Wu, Weili, Qu, Shoufang, Gao, Shangxian, Liu, Licheng, Zhao, Jing, Wang, Mengzhao, Zhou, Junyi, Jie, Huang, Chen, Weijun

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Nanopore Third-Generation Sequencing for Comprehensive Analysis of Hemoglobinopathy Variants von Huang, Weilun, Qu, Shoufang, Qin, Qiongzhen, Yang, Xu, Han, Wanqing, Lai, Yongli, Chen, Jiaqi, Zhou, Shihao, Yang, Xuexi, Zhou, Wanjun

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Construction of a reference material panel for detecting KRAS/NRAS/EGFR/BRAF/MET mutations in plasma ctDNA von Xu, Jun, Qu, Shoufang, Sun, Nan, Zhang, Wenxin, Zhang, Juanli, Song, Qingtao, Lin, Mufei, Gao, Wei, Zheng, Qiaosong, Han, Mipeng, Na, Chenglong, Xu, Ren, Chang, Xiaoyan, Yang, Xuexi, Huang, Jie

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Simulated confined placental mosaicism proportion (SCPMP) based on cell‐free fetal DNA fraction enrichment can reduce false‐positive results in non‐invasive prenatal testing von Zhou, Junhua, Ouyang, Guojun, Wu, Long, Zhang, Min, Weng, Rongtao, Lin, Shuman, Wang, Yuanli, Li, Kun, Yang, Xu, Wu, Yingsong, Liang, Zhikun, Li, Fenxia, Qu, Shoufang, Yang, Xuexi

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Non-cell Corynebacterium parvum generated by nanotechnology: A promising immunomodulator with less side effects von Gao, Shangxian, Liu, Chenghu, Qu, Shoufang, Song, Jing, Li, Jianfeng, Zhang, Pin, Wang, Qun, Guo, Chun, Gao, Fei, Zhang, Lining

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A Reference System for BRCA Mutation Detection Based on Next-Generation Sequencing in the Chinese Population von Qu, Shoufang, Chen, Qiong, Yi, Yuting, Shao, Kang, Zhang, Wenxin, Wang, Yin, Bai, Jian, Li, Xuchao, Liu, Zhiyuan, Wang, Xiaowen, Jing, Ruilin, Guan, Yanfang, Yi, Xin, Yan, Miaoli, Cao, Boyang, Chen, Feng, Zhu, Shida, Yang, Xuexi, Wu, Yingsong, Huang, Jie

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The Setup and Application of Reference Material in Sequencing-Based Noninvasive Prenatal Testing von Qu, Shoufang, Zhang, Yanyan, Yang, Xin, Tan, Yueqiu, Li, Ming, Yang, Xuexi, Zhou, Lijun, Chen, Di, Chen, Yangyi, Yan, Miaoli, Wang, Qiwei, Yu, Ting, Sun, Nan, Jiang, Hui, Su, Fengxia, Di, Yufen, Lin, Ge, Yuan, Yuying, Chen, Fang, Mu, Feng, Huang, Jie

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Development of a genomic DNA reference material panel for thalassemia genetic testing von Yin, Zhenzhen, Qu, Shoufang, Huang, Chuanfeng, Chen, Fang, Li, Jianbiao, Chen, Shiping, Ye, Jingyu, Yang, Ying, Zheng, Yu, Zhang, Xi, Yang, Xuexi, Xie, Longxu, Wei, Jitao, Wei, Fengxiang, Guo, Jian, Huang, Jie

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A novel RFLP-ARMS TaqMan PCR-based method for detecting the BRAF V600E mutation in melanoma von Zhang, Yunqing, Qu, Shoufang, Zhao, Jinyin, Yu, Ting, Guo, Liping, Yin, Songchao, Hu, Xiaoxu, Chen, Weijun, Lai, Wei, Huang, Jie

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A reference human genome dataset of the BGISEQ-500 sequencer von Huang, Jie, Liang, Xinming, Xuan, Yuankai, Geng, Chunyu, Li, Yuxiang, Lu, Haorong, Qu, Shoufang, Mei, Xianglin, Chen, Hongbo, Yu, Ting, Sun, Nan, Rao, Junhua, Wang, Jiahao, Zhang, Wenwei, Chen, Ying, Liao, Sha, Jiang, Hui, Liu, Xin, Yang, Zhaopeng, Mu, Feng, Gao, Shangxian

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Detection of low-level DNA mutation by ARMS-blocker-Tm PCR von Qu, Shoufang, Liu, Licheng, Gan, Shuzhen, Feng, Huahua, Zhao, Jingyin, Zhao, Jing, Liu, Qi, Gao, Shangxiang, Chen, Weijun, Wang, Mengzhao, Jiang, Yongqiang, Huang, Jie

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Sensitive detection of trace amounts of KRAS codon 12 mutations by a fast and novel one-step technique von Xie, Feifei, Huang, Jie, Qu, Shoufang, Wu, Weili, Jiang, Jun, Wang, Huagui, Wang, Shujuan, Liu, Qi, Zhang, Senlin, Xu, Lizhi, Gao, Shangxian, Zhang, Yunqing, Zhao, Jinyin, Chen, Weijun

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Erratum to: A reference human genome dataset of the BGISEQ-500 sequencer von Huang, Jie, Liang, Xinming, Xuan, Yuankai, Geng, Chunyu, Li, Yuxiang, Lu, Haorong, Qu, Shoufang, Mei, Xianglin, Chen, Hongbo, Yu, Ting, Sun, Nan, Rao, Junhua, Wang, Jiahao, Zhang, Wenwei, Chen, Ying, Liao, Sha, Jiang, Hui, Liu, Xin, Yang, Zhaopeng, Mu, Feng, Gao, Shangxian

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