基本信息
彭智宇 男 博导 其他
电子邮件： pengzhiyu@bgi.com
通信地址： 深圳市盐田区北山道北山工业区11栋
邮政编码： 581083
电子邮件： pengzhiyu@bgi.com
通信地址： 深圳市盐田区北山道北山工业区11栋
邮政编码： 581083
招生信息
招生专业
0710Z1-基因组学
0710J3-生物信息学
0710J3-生物信息学
招生方向
基因组学
医学遗传学
生物信息学
医学遗传学
生物信息学
教育背景
2004-09--2009-07 北京大学 博士
2000-09--2004-07 中国农业大学 本科
2000-09--2004-07 中国农业大学 本科
工作经历
工作简历
2018-06~2021-04,深圳华大基因股份有限公司, 研究员
2014-10~2018-06,深圳华大基因医学有限公司, 副研究员
2012-01~2014-09,华大集团, 华南区首席科学家
2009-07~2011-12,华大科技服务公司, 副研究员
2014-10~2018-06,深圳华大基因医学有限公司, 副研究员
2012-01~2014-09,华大集团, 华南区首席科学家
2009-07~2011-12,华大科技服务公司, 副研究员
社会兼职
2021-01-01-今,广东省地中海贫血防治协会, 理事
2019-06-01-今,BMC Medical Genomics期刊Associate editor, Associate editor
2018-07-01-今,郑州大学, 兼职教授
2018-07-01-今,西北大学, 兼职教授
2017-03-10-今,广东省精准医学应用学会副会长, 副编辑
2016-06-06-今,大连理工大学生命与医药学院兼职教授, 兼职教授
2019-06-01-今,BMC Medical Genomics期刊Associate editor, Associate editor
2018-07-01-今,郑州大学, 兼职教授
2018-07-01-今,西北大学, 兼职教授
2017-03-10-今,广东省精准医学应用学会副会长, 副编辑
2016-06-06-今,大连理工大学生命与医药学院兼职教授, 兼职教授
专利与奖励
奖励信息
（1） 全国妇幼健康科学技术奖, 二等奖, 其他, 2019
（2） 云南省卫生科技成果奖, 一等奖, 省级, 2019
（3） 深圳市青年科技奖, 市地级, 2017
（4） “广东特支计划”科技创新领军人才, 省级, 2017
（5） 广州市珠江科技新星, 市地级, 2015
（2） 云南省卫生科技成果奖, 一等奖, 省级, 2019
（3） 深圳市青年科技奖, 市地级, 2017
（4） “广东特支计划”科技创新领军人才, 省级, 2017
（5） 广州市珠江科技新星, 市地级, 2015
专利成果
[1] 彭智宇, 孙宇, 向嘉乐, 陈森, 谢文, 李丹, 张红云. LOXH1基因突变体及其应用. ZL 2019 1 0812834.5, 2019-08-30.
出版信息
发表论文
[1] Xiang, Jiale, Sun, Xiangzhong, Song, Nana, Ramaswamy, Sathishkumar, Abou Tayoun, Ahmad N, Peng, Zhiyu. Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss. HUMAN GENETICS[J]. 2023, 第 6 作者 通讯作者 142(1): 33-43, http://dx.doi.org/10.1007/s00439-022-02479-0.
[2] Xiang, Jiale, Li, Ru, He, Jun, Wang, Xiaohua, Yao, Ling, Song, Nana, Fu, Fang, Zhou, Shihao, Wang, Jie, Gao, Xiaoya, Peng, Jiguang, Wan, Junhui, Hu, Lanping, Liu, Aiju, Guo, Yaya, Peng, Can, Liu, Xiaoxia, Lin, Jiawei, Li, Shuai, Sun, Jun, Li, Dongzhi, Peng, Zhiyu, Liao, Can. Clinical impacts of genome-wide noninvasive prenatal testing for rare autosomal trisomy. AMERICAN JOURNAL OF OBSTETRICS & GYNECOLOGY MFM[J]. 2023, 第 11 作者5(1): http://dx.doi.org/10.1016/j.ajogmf.2022.100790.
[3] Xiang, Jiale, Peng, Jiguang, Sun, Xiangzhong, Lin, Zibin, Li, Dongdong, Ye, Haodong, Wang, Sibao, Bai, Yushi, Wang, Xiaohong, Du, Peina, Gao, Ya, Sun, Jun, Pan, Silin, Peng, Zhiyu. The Next Generation of Population-Based DFNB16 Carrier Screening and Diagnosis: STRC Copy-Number Variant Analysis from Genome Sequencing Data. CLINICAL CHEMISTRY[J]. 2023, 第 14 作者 通讯作者 69(7): 763-770, http://dx.doi.org/10.1093/clinchem/hvad046.
[4] 彭智宇. Utility of Whole Genome Sequencing for Population Screening of Deafness-Related Genetic Variants and Cytomegalovirus Infection in Newborns. FRONTIERSINGENETICS[J]. 2022, 第 1 作者
[5] Jing Wang, Jiale Xiang, Lisha Chen, Hongyu Luo, Xiuhua Xu, Nan Li, Chunming Cui, Jingjing Xu, Nana Song, Jiguang Peng, Zhiyu Peng. Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach. SCIENTIFIC REPORTS[J]. 2021, 第 11 作者 通讯作者 11(1): https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7889619/.
[6] 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. Noninvasive prenatal testing of alpha-thalassemia and beta-thalassemia through population-based parental haplotyping. GENOME MEDICINE[J]. 2021, 第 22 作者 通讯作者 13(1): https://www.webofscience.com/wos/woscc/full-record/WOS:000617446800002.
[7] Xiang, Jiale, Yang, Jiyun, Chen, Lisha, Chen, Qiang, Yang, Haiyan, Sun, Chengcheng, Zhou, Qing, Peng, Zhiyu. Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades. SCIENTIFIC REPORTS[J]. 2020, 第 8 作者 通讯作者 10(1): http://dx.doi.org/10.1038/s41598-019-57335-5.
[8] Guo, Ling, Xiang, Jiale, Sun, Lei, Yan, Xinyi, Yang, Jingjing, Wu, Haiyan, Guo, Kejian, Peng, Jiguang, Xie, Xiaomei, Yin, Ye, Wang, Jian, Yang, Huanming, Shen, Jun, Zhao, Lijian, Peng, Zhiyu. Concurrent hearing and genetic screening in a general newborn population. HUMAN GENETICS[J]. 2020, 第 15 作者 通讯作者 139(4): 521-530, http://dx.doi.org/10.1007/s00439-020-02118-6.
[9] Zheng, Jianchao, Zhang, Hongyun, Banerjee, Santasree, Li, Yun, Zhou, Junyu, Yang, Qian, Tan, Xuemei, Han, Peng, Fu, Qinmei, Cui, Xiaoli, Yuan, Yuying, Zhang, Meiyan, Shen, Ruiqin, Song, Haifeng, Zhang, Xiuqing, Zhao, Lijian, Peng, Zhiyu, Wang, Wei, Yin, Ye. A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology. MOLECULAR GENETICS & GENOMIC MEDICINE[J]. 2019, 第 17 作者 通讯作者 7(7): https://doaj.org/article/46b4bcc2497c44e583aa5c66456c1f29.
[10] Sun, Yu, Xiang, Jiale, Liu, Yidong, Chen, Sen, Yu, Jintao, Peng, Jiguang, Liu, Zijing, Chen, Lisha, Sun, Jun, Yang, Yun, Yang, Yaping, Zhou, Yulin, Peng, Zhiyu. Increased diagnostic yield by reanalysis of data from a hearing loss gene panel. BMC MEDICAL GENOMICS[J]. 2019, 第 13 作者 通讯作者 12(1): http://dx.doi.org/10.1186/s12920-019-0531-6.
[11] Wang, Qiuju, Xiang, Jiale, Sun, Jun, Yang, Yun, Guan, Jing, Wang, Dayong, Song, Cui, Guo, Ling, Wang, Hongyang, Chen, Yaqiu, Leng, Junhong, Wang, Xiaman, Zhang, Junqing, Han, Bing, Zou, Jing, Yan, Chengbin, Zhao, Lidong, Luo, Hongyu, Han, Yuan, Yuan, Wen, Zhang, Hongyun, Wang, Wei, Wang, Jian, Yang, Huanming, Xu, Xun, Yin, Ye, Morton, Cynthia C, Zhao, Lijian, Zhu, Shida, Shen, Jun, Peng, Zhiyu. Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China. GENETICS IN MEDICINE[J]. 2019, 第 31 作者 通讯作者 21(10): 2231-2238, http://dx.doi.org/10.1038/s41436-019-0481-6.
[12] 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. Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples. EUROPEAN JOURNAL OF HUMAN GENETICS[J]. 2019, 第 35 作者 通讯作者 27(2): 254-262, http://dx.doi.org/10.1038/s41431-018-0253-9.
[13] 黄辉, 沈亦平, 顾卫红, 王伟, 王一鸣, 祁鸣, 沈珺, 邱正庆, 于世辉, 周在威, 陈白雪, 陈蕾, 陈云弟, 崔欢欢, 杜娟, 高勇, 郭一然, 胡婵娟, 胡亮, 黄颐, 李培培, 李厦戎, 李秀蓉, 刘雅萍, 卢洁, 马端, 马永毅, 彭嵋, 宋昉, 孙洪业, 汪亮, 王大伟, 王静敏, 王玲, 王正远, 王志农, 吴继红, 吴静, 伍建, 许怡民, 姚宏, 杨东声, 杨旭, 杨艳玲, 张颖, 周裕林, 朱宝生, 曾思聪, 彭智宇, 黄尚志. 临床基因检测报告规范与基因检测行业共识探讨. 中华医学遗传学杂志[J]. 2018, 第 49 作者35(1): 1-8, http://lib.cqvip.com/Qikan/Article/Detail?id=674489087.
[14] Shang, Xuan, Peng, Zhiyu, Ye, Yuhua, Asan, 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, Yin, Xiaolin, Wu, Liusong, He, Jing, Huang, Dongai, He, Sheng, Yan, Tizhen, Fan, Xin, Zhou, Yuehong, Wei, Xiaofeng, Zhao, Sumin, Cai, Decheng, Guo, Fengyu, Zhang, Qianqian, Li, Yun, Zhang, Xuelian, Lu, Haorong, Huang, Huajie, Guo, Junfu, Zhu, Fei, Yuan, Yuan, Zhang, Li, Liu, Na, Li, Zhiming, Jiang, Hui, Zhang, Qiang, Zhang, Yijia, Juhari, Wan Khairunnisa Wan, Hanafi, Sarifah, Zhou, Wanjun, Xiong, Fu, Yang, Huanming, Wang, Jian, Zilfalil, Bin Alwi, Qi, Ming, Yang, Yaping, Yin, Ye, Mao, Mao, Xu, Xiangmin. Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies. EBIOMEDICINE[J]. 2017, 第 2 作者23(C): 150-159, https://doaj.org/article/ddb85bcb4ac24f0987fd7226623d7a62.
[15] Wu, Liusong, Peng, Zhiyu, Lu, Sen, Tan, Mei, Rong, Ying, Tian, Runmei, Yang, Yuhang, Chen, Yan, Chen, Jindong. beta-thalassemia caused by compound heterozygous mutations and cured by bone marrow transplantation: A case report. MOLECULAR MEDICINE REPORTS[J]. 2017, 第 2 作者16(5): 6552-6557, https://www.webofscience.com/wos/woscc/full-record/WOS:000414698900107.
[16] Zhang, Wenqian, Yu, Ying, Hertwig, Falk, ThierryMieg, Jean, Zhang, Wenwei, ThierryMieg, Danielle, Wang, Jian, Furlanello, Cesare, Devanarayan, Viswanath, Cheng, Jie, Deng, Youping, Hero, Barbara, Hong, Huixiao, Jia, Meiwen, Li, Li, Lin, Simon M, Nikolsky, Yuri, Oberthuer, Andre, Qing, Tao, Su, Zhenqiang, Volland, Ruth, Wang, Charles, Wang, May D, Ai, Junmei, Albanese, Davide, Asgharzadeh, Shahab, Avigad, Smadar, Bao, Wenjun, Bessarabova, Marina, Brilliant, Murray H, Brors, Benedikt, Chierici, Marco, Chu, TzuMing, Zhang, Jibin, Grundy, Richard G, He, Min Max, Hebbring, Scott, Kaufman, Howard L, Lababidi, Samir, Lancashire, Lee J, Li, Yan, Lu, Xin X, Luo, Heng, Ma, Xiwen, Ning, Baitang, Noguera, Rosa, Peifer, Martin, Phan, John H, Roels, Frederik, Rosswog, Carolina, Shao, Susan, Shen, Jie, Theissen, Jessica, Tonini, Gian Paolo, Vandesompele, Jo, Wu, PoYen, Xiao, Wenzhong, Xu, Joshua, Xu, Weihong, Xuan, Jiekun, Yang, Yong, Ye, Zhan, Dong, Zirui, Zhang, Ke K, Yin, Ye, Zhao, Chen, Zheng, Yuanting, Wolfinger, Russell D, Shi, Tieliu, Malkas, Linda H, Berthold, Frank, Wang, Jun, Tong, Weida, Shi, Leming, Peng, Zhiyu, Fischer, Matthias. Comparison of RNA-seq and microarray-based models for clinical endpoint prediction. GENOME BIOLOGY[J]. 2015, 第 75 作者16(1): http://ir.gibh.ac.cn/handle/344009/528.
[17] Chen, JiaYu, Peng, Zhiyu, Zhang, Rongli, Yang, XinZhuang, Tan, Bertrand ChinMing, Fang, Huaying, Liu, ChuJun, Shi, Mingming, Ye, ZhiQiang, Zhang, Yong E, Deng, Minghua, Zhang, Xiuqin, Li, ChuanYun. RNA Editome in Rhesus Macaque Shaped by Purifying Selection. PLOS GENETICS[J]. 2014, 第 2 作者10(4):
[18] Wu, Jikun, Zhang, Wenqian, Huang, Songbo, He, Zengquan, Cheng, Yanbing, Wang, Jun, Lam, TakWah, Peng, Zhiyu, Yiu, SiuMing. SOAPfusion: a robust and effective computational fusion discovery tool for RNA-seq reads. BIOINFORMATICS[J]. 2013, 第 8 作者 通讯作者 29(23): 2971-2978, https://www.webofscience.com/wos/woscc/full-record/WOS:000327508300003.
[19] Marilyn L.Warburton. Genome-wide association study dissects the genetic architecture of oil biosynthesis in maize kernels. 2012, http://kns.cnki.net/KCMS/detail/detail.aspx?QueryID=0&CurRec=13&recid=&FileName=ZGYL201208002035&DbName=CPFD0914&DbCode=CPFD&yx=&pr=&URLID=&bsm=.
[20] Ren, Shancheng, Peng, Zhiyu, Mao, JianHua, Yu, Yongwei, Yin, Changjun, Gao, Xin, Cui, Zilian, Zhang, Jibin, Yi, Kang, Xu, Weidong, Chen, Chao, Wang, Fubo, Guo, Xinwu, Lu, Ji, Yang, Jun, Wei, Min, Tian, Zhijian, Guan, Yinghui, Tang, Liang, Xu, Chuanliang, Wang, Linhui, Gao, Xu, Tian, Wei, Wang, Jian, Yang, Huanming, Wang, Jun, Sun, Yinghao. RNA-seq analysis of prostate cancer in the Chinese population identifies recurrent gene fusions, cancer-associated long noncoding RNAs and aberrant alternative splicings. CELL RESEARCH[J]. 2012, 第 2 作者22(5): 806-821, http://sciencechina.cn/gw.jsp?action=detail.jsp&internal_id=4551229&detailType=1.
[21] Peng, Zhiyu, Cheng, Yanbing, Tan, Bertrand ChinMing, Kang, Lin, Tian, Zhijian, Zhu, Yuankun, Zhang, Wenwei, Liang, Yu, Hu, Xueda, Tan, Xuemei, Guo, Jing, Dong, Zirui, Liang, Yan, Bao, Li, Wang, Jun. Comprehensive analysis of RNA-Seq data reveals extensive RNA editing in a human transcriptome. NATURE BIOTECHNOLOGY[J]. 2012, 第 1 作者30(3): 253-+, http://dx.doi.org/10.1038/nbt.2122.
[2] Xiang, Jiale, Li, Ru, He, Jun, Wang, Xiaohua, Yao, Ling, Song, Nana, Fu, Fang, Zhou, Shihao, Wang, Jie, Gao, Xiaoya, Peng, Jiguang, Wan, Junhui, Hu, Lanping, Liu, Aiju, Guo, Yaya, Peng, Can, Liu, Xiaoxia, Lin, Jiawei, Li, Shuai, Sun, Jun, Li, Dongzhi, Peng, Zhiyu, Liao, Can. Clinical impacts of genome-wide noninvasive prenatal testing for rare autosomal trisomy. AMERICAN JOURNAL OF OBSTETRICS & GYNECOLOGY MFM[J]. 2023, 第 11 作者5(1): http://dx.doi.org/10.1016/j.ajogmf.2022.100790.
[3] Xiang, Jiale, Peng, Jiguang, Sun, Xiangzhong, Lin, Zibin, Li, Dongdong, Ye, Haodong, Wang, Sibao, Bai, Yushi, Wang, Xiaohong, Du, Peina, Gao, Ya, Sun, Jun, Pan, Silin, Peng, Zhiyu. The Next Generation of Population-Based DFNB16 Carrier Screening and Diagnosis: STRC Copy-Number Variant Analysis from Genome Sequencing Data. CLINICAL CHEMISTRY[J]. 2023, 第 14 作者 通讯作者 69(7): 763-770, http://dx.doi.org/10.1093/clinchem/hvad046.
[4] 彭智宇. Utility of Whole Genome Sequencing for Population Screening of Deafness-Related Genetic Variants and Cytomegalovirus Infection in Newborns. FRONTIERSINGENETICS[J]. 2022, 第 1 作者
[5] Jing Wang, Jiale Xiang, Lisha Chen, Hongyu Luo, Xiuhua Xu, Nan Li, Chunming Cui, Jingjing Xu, Nana Song, Jiguang Peng, Zhiyu Peng. Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach. SCIENTIFIC REPORTS[J]. 2021, 第 11 作者 通讯作者 11(1): https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7889619/.
[6] 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. Noninvasive prenatal testing of alpha-thalassemia and beta-thalassemia through population-based parental haplotyping. GENOME MEDICINE[J]. 2021, 第 22 作者 通讯作者 13(1): https://www.webofscience.com/wos/woscc/full-record/WOS:000617446800002.
[7] Xiang, Jiale, Yang, Jiyun, Chen, Lisha, Chen, Qiang, Yang, Haiyan, Sun, Chengcheng, Zhou, Qing, Peng, Zhiyu. Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades. SCIENTIFIC REPORTS[J]. 2020, 第 8 作者 通讯作者 10(1): http://dx.doi.org/10.1038/s41598-019-57335-5.
[8] Guo, Ling, Xiang, Jiale, Sun, Lei, Yan, Xinyi, Yang, Jingjing, Wu, Haiyan, Guo, Kejian, Peng, Jiguang, Xie, Xiaomei, Yin, Ye, Wang, Jian, Yang, Huanming, Shen, Jun, Zhao, Lijian, Peng, Zhiyu. Concurrent hearing and genetic screening in a general newborn population. HUMAN GENETICS[J]. 2020, 第 15 作者 通讯作者 139(4): 521-530, http://dx.doi.org/10.1007/s00439-020-02118-6.
[9] Zheng, Jianchao, Zhang, Hongyun, Banerjee, Santasree, Li, Yun, Zhou, Junyu, Yang, Qian, Tan, Xuemei, Han, Peng, Fu, Qinmei, Cui, Xiaoli, Yuan, Yuying, Zhang, Meiyan, Shen, Ruiqin, Song, Haifeng, Zhang, Xiuqing, Zhao, Lijian, Peng, Zhiyu, Wang, Wei, Yin, Ye. A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology. MOLECULAR GENETICS & GENOMIC MEDICINE[J]. 2019, 第 17 作者 通讯作者 7(7): https://doaj.org/article/46b4bcc2497c44e583aa5c66456c1f29.
[10] Sun, Yu, Xiang, Jiale, Liu, Yidong, Chen, Sen, Yu, Jintao, Peng, Jiguang, Liu, Zijing, Chen, Lisha, Sun, Jun, Yang, Yun, Yang, Yaping, Zhou, Yulin, Peng, Zhiyu. Increased diagnostic yield by reanalysis of data from a hearing loss gene panel. BMC MEDICAL GENOMICS[J]. 2019, 第 13 作者 通讯作者 12(1): http://dx.doi.org/10.1186/s12920-019-0531-6.
[11] Wang, Qiuju, Xiang, Jiale, Sun, Jun, Yang, Yun, Guan, Jing, Wang, Dayong, Song, Cui, Guo, Ling, Wang, Hongyang, Chen, Yaqiu, Leng, Junhong, Wang, Xiaman, Zhang, Junqing, Han, Bing, Zou, Jing, Yan, Chengbin, Zhao, Lidong, Luo, Hongyu, Han, Yuan, Yuan, Wen, Zhang, Hongyun, Wang, Wei, Wang, Jian, Yang, Huanming, Xu, Xun, Yin, Ye, Morton, Cynthia C, Zhao, Lijian, Zhu, Shida, Shen, Jun, Peng, Zhiyu. Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China. GENETICS IN MEDICINE[J]. 2019, 第 31 作者 通讯作者 21(10): 2231-2238, http://dx.doi.org/10.1038/s41436-019-0481-6.
[12] 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. Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples. EUROPEAN JOURNAL OF HUMAN GENETICS[J]. 2019, 第 35 作者 通讯作者 27(2): 254-262, http://dx.doi.org/10.1038/s41431-018-0253-9.
[13] 黄辉, 沈亦平, 顾卫红, 王伟, 王一鸣, 祁鸣, 沈珺, 邱正庆, 于世辉, 周在威, 陈白雪, 陈蕾, 陈云弟, 崔欢欢, 杜娟, 高勇, 郭一然, 胡婵娟, 胡亮, 黄颐, 李培培, 李厦戎, 李秀蓉, 刘雅萍, 卢洁, 马端, 马永毅, 彭嵋, 宋昉, 孙洪业, 汪亮, 王大伟, 王静敏, 王玲, 王正远, 王志农, 吴继红, 吴静, 伍建, 许怡民, 姚宏, 杨东声, 杨旭, 杨艳玲, 张颖, 周裕林, 朱宝生, 曾思聪, 彭智宇, 黄尚志. 临床基因检测报告规范与基因检测行业共识探讨. 中华医学遗传学杂志[J]. 2018, 第 49 作者35(1): 1-8, http://lib.cqvip.com/Qikan/Article/Detail?id=674489087.
[14] Shang, Xuan, Peng, Zhiyu, Ye, Yuhua, Asan, 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, Yin, Xiaolin, Wu, Liusong, He, Jing, Huang, Dongai, He, Sheng, Yan, Tizhen, Fan, Xin, Zhou, Yuehong, Wei, Xiaofeng, Zhao, Sumin, Cai, Decheng, Guo, Fengyu, Zhang, Qianqian, Li, Yun, Zhang, Xuelian, Lu, Haorong, Huang, Huajie, Guo, Junfu, Zhu, Fei, Yuan, Yuan, Zhang, Li, Liu, Na, Li, Zhiming, Jiang, Hui, Zhang, Qiang, Zhang, Yijia, Juhari, Wan Khairunnisa Wan, Hanafi, Sarifah, Zhou, Wanjun, Xiong, Fu, Yang, Huanming, Wang, Jian, Zilfalil, Bin Alwi, Qi, Ming, Yang, Yaping, Yin, Ye, Mao, Mao, Xu, Xiangmin. Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies. EBIOMEDICINE[J]. 2017, 第 2 作者23(C): 150-159, https://doaj.org/article/ddb85bcb4ac24f0987fd7226623d7a62.
[15] Wu, Liusong, Peng, Zhiyu, Lu, Sen, Tan, Mei, Rong, Ying, Tian, Runmei, Yang, Yuhang, Chen, Yan, Chen, Jindong. beta-thalassemia caused by compound heterozygous mutations and cured by bone marrow transplantation: A case report. MOLECULAR MEDICINE REPORTS[J]. 2017, 第 2 作者16(5): 6552-6557, https://www.webofscience.com/wos/woscc/full-record/WOS:000414698900107.
[16] Zhang, Wenqian, Yu, Ying, Hertwig, Falk, ThierryMieg, Jean, Zhang, Wenwei, ThierryMieg, Danielle, Wang, Jian, Furlanello, Cesare, Devanarayan, Viswanath, Cheng, Jie, Deng, Youping, Hero, Barbara, Hong, Huixiao, Jia, Meiwen, Li, Li, Lin, Simon M, Nikolsky, Yuri, Oberthuer, Andre, Qing, Tao, Su, Zhenqiang, Volland, Ruth, Wang, Charles, Wang, May D, Ai, Junmei, Albanese, Davide, Asgharzadeh, Shahab, Avigad, Smadar, Bao, Wenjun, Bessarabova, Marina, Brilliant, Murray H, Brors, Benedikt, Chierici, Marco, Chu, TzuMing, Zhang, Jibin, Grundy, Richard G, He, Min Max, Hebbring, Scott, Kaufman, Howard L, Lababidi, Samir, Lancashire, Lee J, Li, Yan, Lu, Xin X, Luo, Heng, Ma, Xiwen, Ning, Baitang, Noguera, Rosa, Peifer, Martin, Phan, John H, Roels, Frederik, Rosswog, Carolina, Shao, Susan, Shen, Jie, Theissen, Jessica, Tonini, Gian Paolo, Vandesompele, Jo, Wu, PoYen, Xiao, Wenzhong, Xu, Joshua, Xu, Weihong, Xuan, Jiekun, Yang, Yong, Ye, Zhan, Dong, Zirui, Zhang, Ke K, Yin, Ye, Zhao, Chen, Zheng, Yuanting, Wolfinger, Russell D, Shi, Tieliu, Malkas, Linda H, Berthold, Frank, Wang, Jun, Tong, Weida, Shi, Leming, Peng, Zhiyu, Fischer, Matthias. Comparison of RNA-seq and microarray-based models for clinical endpoint prediction. GENOME BIOLOGY[J]. 2015, 第 75 作者16(1): http://ir.gibh.ac.cn/handle/344009/528.
[17] Chen, JiaYu, Peng, Zhiyu, Zhang, Rongli, Yang, XinZhuang, Tan, Bertrand ChinMing, Fang, Huaying, Liu, ChuJun, Shi, Mingming, Ye, ZhiQiang, Zhang, Yong E, Deng, Minghua, Zhang, Xiuqin, Li, ChuanYun. RNA Editome in Rhesus Macaque Shaped by Purifying Selection. PLOS GENETICS[J]. 2014, 第 2 作者10(4):
[18] Wu, Jikun, Zhang, Wenqian, Huang, Songbo, He, Zengquan, Cheng, Yanbing, Wang, Jun, Lam, TakWah, Peng, Zhiyu, Yiu, SiuMing. SOAPfusion: a robust and effective computational fusion discovery tool for RNA-seq reads. BIOINFORMATICS[J]. 2013, 第 8 作者 通讯作者 29(23): 2971-2978, https://www.webofscience.com/wos/woscc/full-record/WOS:000327508300003.
[19] Marilyn L.Warburton. Genome-wide association study dissects the genetic architecture of oil biosynthesis in maize kernels. 2012, http://kns.cnki.net/KCMS/detail/detail.aspx?QueryID=0&CurRec=13&recid=&FileName=ZGYL201208002035&DbName=CPFD0914&DbCode=CPFD&yx=&pr=&URLID=&bsm=.
[20] Ren, Shancheng, Peng, Zhiyu, Mao, JianHua, Yu, Yongwei, Yin, Changjun, Gao, Xin, Cui, Zilian, Zhang, Jibin, Yi, Kang, Xu, Weidong, Chen, Chao, Wang, Fubo, Guo, Xinwu, Lu, Ji, Yang, Jun, Wei, Min, Tian, Zhijian, Guan, Yinghui, Tang, Liang, Xu, Chuanliang, Wang, Linhui, Gao, Xu, Tian, Wei, Wang, Jian, Yang, Huanming, Wang, Jun, Sun, Yinghao. RNA-seq analysis of prostate cancer in the Chinese population identifies recurrent gene fusions, cancer-associated long noncoding RNAs and aberrant alternative splicings. CELL RESEARCH[J]. 2012, 第 2 作者22(5): 806-821, http://sciencechina.cn/gw.jsp?action=detail.jsp&internal_id=4551229&detailType=1.
[21] Peng, Zhiyu, Cheng, Yanbing, Tan, Bertrand ChinMing, Kang, Lin, Tian, Zhijian, Zhu, Yuankun, Zhang, Wenwei, Liang, Yu, Hu, Xueda, Tan, Xuemei, Guo, Jing, Dong, Zirui, Liang, Yan, Bao, Li, Wang, Jun. Comprehensive analysis of RNA-Seq data reveals extensive RNA editing in a human transcriptome. NATURE BIOTECHNOLOGY[J]. 2012, 第 1 作者30(3): 253-+, http://dx.doi.org/10.1038/nbt.2122.
科研活动
科研项目
（ 1 ） 感染性疾病病原体宏基因组学检测方法与诊断产品研发, 主持, 国家级, 2018-01--2020-12
（ 2 ） 肺癌和前列腺癌的多组学研究和分析(“广东特支计划”科技创新领军人才), 主持, 省级, 2017-04--2020-05
（ 3 ） 遗传性耳聋NGS Panel基因检测优化升级, 主持, 院级, 2021-01--2021-12
（ 4 ） NIPT试剂国产化研发, 主持, 院级, 2021-01--2023-12
（ 5 ） 临床新生儿基因筛查产品开发与多中心筛查项目, 主持, 院级, 2021-01--2023-12
（ 2 ） 肺癌和前列腺癌的多组学研究和分析(“广东特支计划”科技创新领军人才), 主持, 省级, 2017-04--2020-05
（ 3 ） 遗传性耳聋NGS Panel基因检测优化升级, 主持, 院级, 2021-01--2021-12
（ 4 ） NIPT试剂国产化研发, 主持, 院级, 2021-01--2023-12
（ 5 ） 临床新生儿基因筛查产品开发与多中心筛查项目, 主持, 院级, 2021-01--2023-12
参与会议
（1）基因科技在出生缺陷防控的应用 中华医学会第十八次全国医学遗传学学术年会 2019-05-19
（2）全人群耳聋听力和基因联合筛查 第八届中国出生缺陷防控论坛 2019-05-19
（3）基因组学技术在生育健康领域的应用 第十三届国际基因组学大会 生殖遗传临床应用长沙分会 2018-10-29
（4）中国南方扩展携带者筛查的初步研究 中华医师协会医学遗传医师分会2018年会 2018-10-13
（2）全人群耳聋听力和基因联合筛查 第八届中国出生缺陷防控论坛 2019-05-19
（3）基因组学技术在生育健康领域的应用 第十三届国际基因组学大会 生殖遗传临床应用长沙分会 2018-10-29
（4）中国南方扩展携带者筛查的初步研究 中华医师协会医学遗传医师分会2018年会 2018-10-13
指导学生
现指导学生
阳紫莹 博士研究生 071007-遗传学
邓秋婷 博士研究生 071007-遗传学