A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns by Haiyan Yang, Hongyu Luo, Guiwei Zhang, Junqing Zhang, Zhiyu Peng, Jiale Xiang

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Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss by Jiale Xiang, Yuan Jin, Nana Song, Sen Chen, Jiankun Shen, Wen Xie, Xiangzhong Sun, Zhiyu Peng, Yu Sun

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Noninvasive prenatal diagnosis of monogenic disorders based on direct haplotype phasing through targeted linked-read sequencing by Chao Chen, Min Chen, Yaping Zhu, Lu Jiang, Jia Li, Yaoshen Wang, Zhe Lu, Fengyu Guo, Hairong Wang, Zhiyu Peng, Yun Yang, Jun Sun

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The effect of hemolysis on quality control metrics for noninvasive prenatal testing by Yaya Guo, Dandan Yu, Kaisu Zhou, Jie Wang, Dongzhu Lei, Zhenpeng Xu, Weijiang Tang, Miaofeng Wu, Xingxing Fang, Jiankun Shen, Zhiyu Peng, Jiale Xiang

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Increased diagnostic yield by reanalysis of data from a hearing loss gene panel by Yu Sun, Jiale Xiang, Yidong Liu, Sen Chen, Jintao Yu, Jiguang Peng, Zijing Liu, Lisha Chen, Jun Sun, Yun Yang, Yaping Yang, Yulin Zhou, Zhiyu Peng

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Accuracy and depth evaluation of clinical low pass genome sequencing in the detection of mosaic aneuploidies and CNVs by Yanqiu Liu, Shengju Hao, Xueqin Guo, Linlin Fan, Zhihong Qiao, Yaoshen Wang, Xiaoli Wang, Jianfen man, Lina Wang, Xiaoming Wei, Huanhuan Peng, Zhiyu Peng, Yan Sun, Lijie Song

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Test development, optimization and validation of a WGS pipeline for genetic disorders by Ziying Yang, Xu Yang, Yan Sun, Yaoshen Wang, Lijie Song, Zhihong Qiao, Zhonghai Fang, Zhonghua Wang, Lipei Liu, Yunmei Chen, Saiying Yan, Xueqin Guo, Junqing Zhang, Chunna Fan, Fengxia Liu, Zhiyu Peng, Huanhuan Peng, Jun Sun, Wei Chen

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Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis by Haining Luo, Chao Chen, Yun Yang, Yinfeng Zhang, Yuan Yuan, Wanyang Wang, Renhua Wu, Zhiyu Peng, Ying Han, Lu Jiang, Ruqiang Yao, Xiaoying An, Weiwei Zhang, Yanqun Le, Jiale Xiang, Na Yi, Hui Huang, Wei Li, Yunshan Zhang, Jun Sun

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Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders by Yan Sun, Fengxia Liu, Chunna Fan, Yaoshen Wang, Lijie Song, Zhonghai Fang, Rui Han, Zhonghua Wang, Xiaodan Wang, Ziying Yang, Zhenpeng Xu, Jiguang Peng, Chaonan Shi, Hongyun Zhang, Wei Dong, Hui Huang, Yun Li, Yanqun Le, Jun Sun, Zhiyu Peng

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