Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene
Zhao, Sumin, Wang, Yaoshen, Xin, Xiuqing, Fang, Zhonghai, Fan, Linlin, Peng, Zhiyu, Han, Rui, Shi, Chaonan, Zhang, Yixiang, Fan, Chuang, Sun, Jun, He, Xuelian
Published in Scientific reports (07.01.2022)
Published in Scientific reports (07.01.2022)
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Journal Article
Analysis of impact damage of Fritillaria ussuriensis Maxim using a free drop experimental study
Song, Jiang, Wang, Yaoshen, Tian, Shuai, Sun, Xingrong, Yi, Shujuan
Published in International journal of food properties (22.09.2023)
Published in International journal of food properties (22.09.2023)
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Journal Article
Recurrent neural network for predicting absence of heterozygosity from low pass WGS with ultra-low depth
Tang, Fei, Wang, Zhonghua, Sun, Yan, Fan, Linlin, Yang, Yun, Guo, Xueqin, Wang, Yaoshen, Yan, Saiying, Qiao, Zhihong, Li, Yun, Jiang, Ting, Wang, Xiaoli, Man, Jianfen, Wang, Lina, Wang, Shunyao, Peng, Huanhuan, Peng, Zhiyu, Xie, Xiaoyuan, Song, Lijie
Published in BMC genomics (14.05.2024)
Published in BMC genomics (14.05.2024)
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Journal Article
NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study
Zhao, Sumin, Wang, Wanyang, Wang, Yaoshen, Han, Rui, Fan, Chunna, Ni, Peixiang, Guo, Fengyu, Zeng, Fanwei, Yang, Qiaona, Yang, Yun, Sun, Yan, Zhang, Xinhua, Chen, Yan, Zhu, Baosheng, Cai, Wangwei, Chen, Shaoke, Cai, Ren, Guo, Xiaoling, Zhang, Chonglin, Zhou, Yuqiu, Huang, Shuodan, Liu, Yanhui, Chen, Biyan, Yan, Shanhuo, Chen, Yajun, Ding, Hongmei, Shang, Xuan, Xu, Xiangmin, Sun, Jun, Peng, Zhiyu
Published in European journal of human genetics : EJHG (01.01.2021)
Published in European journal of human genetics : EJHG (01.01.2021)
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Journal Article
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples
Zhao, Sumin, Xiang, Jiale, Fan, Chunna, Asan, Shang, Xuan, Zhang, Xinhua, Chen, Yan, Zhu, Baosheng, Cai, Wangwei, Chen, Shaoke, Cai, Ren, Guo, Xiaoling, Zhang, Chonglin, Zhou, Yuqiu, Huang, Shuodan, Liu, Yanhui, Chen, Biyan, Yan, Shanhuo, Chen, Yajun, Ding, Hongmei, Guo, Fengyu, Wang, Yaoshen, Zhong, Wenwei, Zhu, Yaping, Wang, Yaling, Chen, Chao, Li, Yun, Huang, Hui, Mao, Mao, Yin, Ye, Wang, Jian, Yang, Huanming, Xu, Xiangmin, Sun, Jun, Peng, Zhiyu
Published in European journal of human genetics : EJHG (01.02.2019)
Published in European journal of human genetics : EJHG (01.02.2019)
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Journal Article
Accuracy and depth evaluation of clinical low pass genome sequencing in the detection of mosaic aneuploidies and CNVs
Liu, Yanqiu, Hao, Shengju, Guo, Xueqin, Fan, Linlin, Qiao, Zhihong, Wang, Yaoshen, Wang, Xiaoli, Man, Jianfen, Wang, Lina, Wei, Xiaoming, Peng, Huanhuan, Peng, Zhiyu, Sun, Yan, Song, Lijie
Published in BMC medical genomics (17.11.2023)
Published in BMC medical genomics (17.11.2023)
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Journal Article
Haplotype-based Noninvasive Prenatal Diagnosis of Hyperphenylalaninemia through Targeted Sequencing of Maternal Plasma
Ye, Jun, Chen, Chao, Yuan, Yuan, Han, Lianshu, Wang, Yaoshen, Qiu, Wenjuan, Zhang, Huiwen, Asan, Gu, Xuefan
Published in Scientific reports (09.01.2018)
Published in Scientific reports (09.01.2018)
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Journal Article
Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders
Sun, Yan, Liu, Fengxia, Fan, Chunna, Wang, Yaoshen, Song, Lijie, Fang, Zhonghai, Han, Rui, Wang, Zhonghua, Wang, Xiaodan, Yang, Ziying, Xu, Zhenpeng, Peng, Jiguang, Shi, Chaonan, Zhang, Hongyun, Dong, Wei, Huang, Hui, Li, Yun, Le, Yanqun, Sun, Jun, Peng, Zhiyu
Published in BMC medical genomics (13.04.2021)
Published in BMC medical genomics (13.04.2021)
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Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing
Zhou, Jia, Yang, Ziying, Sun, Jun, Liu, Lipei, Zhou, Xinyao, Liu, Fengxia, Xing, Ya, Cui, Shuge, Xiong, Shiyi, Liu, Xiaoyu, Yang, Yingjun, Wei, Xiuxiu, Zou, Gang, Wang, Zhonghua, Wei, Xing, Wang, Yaoshen, Zhang, Yun, Yan, Saiying, Wu, Fengyu, Zeng, Fanwei, Wang, Jian, Duan, Tao, Peng, Zhiyu, Sun, Luming
Published in Genes (06.03.2021)
Published in Genes (06.03.2021)
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Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping
Chen, Chao, Li, Ru, Sun, Jun, Zhu, Yaping, Jiang, Lu, Li, Jian, Fu, Fang, Wan, Junhui, Guo, Fengyu, An, Xiaoying, Wang, Yaoshen, Fan, Linlin, Sun, Yan, Guo, Xiaosen, Zhao, Sumin, Wang, Wanyang, Zeng, Fanwei, Yang, Yun, Ni, Peixiang, Ding, Yi, Xiang, Bixia, Peng, Zhiyu, Liao, Can
Published in Genome medicine (05.02.2021)
Published in Genome medicine (05.02.2021)
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Noninvasive prenatal diagnosis of monogenic disorders based on direct haplotype phasing through targeted linked-read sequencing
Chen, Chao, Chen, Min, Zhu, Yaping, Jiang, Lu, Li, Jia, Wang, Yaoshen, Lu, Zhe, Guo, Fengyu, Wang, Hairong, Peng, Zhiyu, Yang, Yun, Sun, Jun
Published in BMC medical genomics (09.10.2021)
Published in BMC medical genomics (09.10.2021)
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Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA
Ma, Dingyuan, Yuan, Yuan, Luo, Chunyu, Wang, Yaoshen, Jiang, Tao, Guo, Fengyu, Zhang, Jingjing, Chen, Chao, Sun, Yun, Cheng, Jian, Hu, Ping, Wang, Jian, Yang, Huanming, Yi, Xin, Wang, Wei, Asan, Xu, Zhengfeng
Published in Scientific reports (07.08.2017)
Published in Scientific reports (07.08.2017)
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Journal Article
Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma
Dan, Shan, Yuan, Yuan, Wang, Yaoshen, Chen, Chao, Gao, Changxin, Yu, Song, Liu, Yan, Song, Wei, Asan, Zhu, Hongmei, Yang, Ling, Deng, Hongmei, Su, Yue, Yi, Xin
Published in PloS one (19.07.2016)
Published in PloS one (19.07.2016)
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Test development, optimization and validation of a WGS pipeline for genetic disorders
Yang, Ziying, Yang, Xu, Sun, Yan, Wang, Yaoshen, Song, Lijie, Qiao, Zhihong, Fang, Zhonghai, Wang, Zhonghua, Liu, Lipei, Chen, Yunmei, Yan, Saiying, Guo, Xueqin, Zhang, Junqing, Fan, Chunna, Liu, Fengxia, Peng, Zhiyu, Peng, Huanhuan, Sun, Jun, Chen, Wei
Published in BMC medical genomics (05.04.2023)
Published in BMC medical genomics (05.04.2023)
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Reproductive management through integration of PGD and MPS-based noninvasive prenatal screening/diagnosis for a family with GJB2-associated hearing impairment
Xiong, WenPing, Wang, DaYong, Gao, Yuan, Gao, Ya, Wang, HongYang, Guan, Jing, Lan, Lan, Yan, JunHao, Zong, Liang, Yuan, Yuan, Dong, Wei, Huang, SeXin, Wu, KeLiang, Wang, YaoShen, Wang, ZhiLi, Peng, HongMei, Lu, YanPing, Xie, LinYi, Zhao, Cui, Wang, Li, Zhang, QiuJing, Gao, Yun, Li, Na, Yang, Ju, Yin, ZiFang, Han, Bing, Wang, Wei, Chen, Zi-Jiang, Wang, QiuJu
Published in Science China. Life sciences (01.09.2015)
Published in Science China. Life sciences (01.09.2015)
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Noninvasive prenatal diagnosis for X-linked disease by maternal plasma sequencing in a family of Hemophilia B
Hu, Ping, Qiao, Fengchang, Yuan, Yuan, Sun, Ruihong, Wang, Yan, Meng, Lulu, Lin, Ying, Li, Hang, Wang, Yaoshen, Han, Rui, Liang, Dong, Ma, Dingyuan, Jiang, Tao, Jiang, Hui, Xu, Zhengfeng
Published in Taiwanese journal of obstetrics & gynecology (01.10.2017)
Published in Taiwanese journal of obstetrics & gynecology (01.10.2017)
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Analysis of impact and absorbed energy of Fritillaria ussuriensis maxim during drum screening and its effect on impact damage
Song, Jiang, Tian, Shuai, Wang, Yaoshen, Han, Xia, Wang, Ming, Sun, Xingrong, Yi, Shujuan
Published in Computers and electronics in agriculture (01.12.2023)
Published in Computers and electronics in agriculture (01.12.2023)
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Comparative study on the screening performance of a vibrating screen with and without a kneading device, based on the discrete element method
Tian, Shuai, Wang, Yaoshen, Zhao, Wei, Zhang, Qiang, Wang, Sibo, Lang, Jinming, Xia, Renjie, Song, Jiang, Song, Wenpeng
Published in Powder technology (01.02.2024)
Published in Powder technology (01.02.2024)
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Performance characterization of PCR-free whole genome sequencing for clinical diagnosis
Zhou, Guiju, Zhou, Meizhen, Zeng, Fanwei, Zhang, Ningzhi, Sun, Yan, Qiao, Zhihong, Guo, Xueqin, Zhou, Shihao, Yun, Guojun, Xie, Jiansheng, Wang, Xiaodan, Liu, Fengxia, Fan, Chunna, Wang, Yaoshen, Fang, Zhonghai, Tian, Zhongming, Dai, Wentao, Sun, Jun, Peng, Zhiyu, Song, Lijie
Published in Medicine (Baltimore) (11.03.2022)
Published in Medicine (Baltimore) (11.03.2022)
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Noninvasive prenatal diagnosis for Duchenne muscular dystrophy based on the direct haplotype phasing
Chen, Min, Chen, Chao, Huang, Xiaoyan, Sun, Jun, Jiang, Lu, Li, Yingting, Zhu, Yaping, Tian, Changgeng, Li, Yufan, Lu, Zhe, Wang, Yaoshen, Zeng, Fanwei, Yang, Yun, Song, Xiwei, Peng, Zhiyu, Yin, Chenghong, Chen, Dunjin
Published in Prenatal diagnosis (01.07.2020)
Published in Prenatal diagnosis (01.07.2020)
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