个人简介

研究员，博士生导师。2007年毕业于温州医科大学获医学硕士学位，2014年毕业于中国科学技术大学获理学博士学位。曾担任中国科学院北京生命科学研究院
青年课题组组长。长期从事医学遗传学研究，主要工作系统围绕着“新生突变与散发性遗传疾病之间的关系”展开。迄今为止以第一或通讯作者身份发表影响因子10分以上SCI论文7篇，先后主持国家级项目4项。2017年入选温州市第三批青年拔尖人才，于2018年入选浙江省高等学校“钱江学者”特聘教授以及浙江省151人才工程第一层次培养人员。同时担任JAMA Psychiatry，Nucleic Acids Research, Journal of Medical Genetics, Bioinformatics和Human Mutation等杂志的特约审稿人。

研究方向：

1. 构建针对散发核心家系中新生突变的分析新方法

2. 鉴定由新生突变导致的各种散发性遗传疾病新的致病基因

3. 基于新生突变，解析各种散发性遗传疾病新遗传模式和规律

4. 阐明新生突变如何产生以及在基因组上非随机分布的内在规律

招生信息：

拟招收生物信息学、遗传学方向硕士研究生

科研成果：

一、期刊论文：

1. Du YQ^#, Li ZS^#, Liu ZW^#, Zhang N, Wang RC, Li FX, Zhang T, Jiang Y, Zhi X, Wang Z, Wu JY^*. Nonrandom occurrence of multiple de novo coding variants in a proband indicates the existence of an oligogenic model in autism. Genetics in Medicine, 2019.

2. Chen XM^#, Jin J^#, Wang QD^#, Xue HQ, Zhang N, Du YQ, Zhang T, Zhang B, Wu JY^*, Liu ZW^*. A de novo pathogenic CSNK1E mutation identified by exome sequencing in family trios with epileptic encephalopathy, Human Mutation, 2019, 40(3): 281-287.

3. Sun LF^#, Zhang B^#, Chen XJ^#, Wang XY, Zhang BW, Ji YY, Wu KC, Wu JY^*, Jin ZB^*. Circular RNAs in human and vertebrate neural retinas. RNA Biology, 2019, 16(6): 821-829.

4. Jin ZB, Li ZS, Liu ZW, Jiang Y, Cai XB, Wu JY^*. Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing. Biological reviews of the Cambridge Philosophical Society, 2018, 93(2): 1014-1031.

5. Jin ZB^#*, Wu JY^#, Huang XF, Feng CY, Cai XB, Mao JY, Xiang L, Wu KC, Xiao XS, Kloss B A, Li ZS, Liu ZW, Huang HS, Shen MX, Cheng FF, Cheng XW, Zheng ZL, Chen XJ, Zhuang WJ, Zhang QJ, Young TL, Xie T, Lu F^*, Qu J^*. Trio-based exome sequencing arrests de novo mutations in early-onset high myopia. Proc Natl Acad Sci, 2017, 114(16): 4219-4224.

6. Jiang Y^#, Li ZS^#, Liu ZW, Chen DH, Wu WY, Du YQ, Ji LY, Jin ZB, Li W^*, Wu JY^*. mirDNMR: a gene-centered database of background de novo mutation rates in human. Nucleic Acids Research, 2017, 45(D1): D796-D803.

7. Li JC^#, Cai T^#, Jiang Y, Chen HQ, He X, Chen C, Li XF, Shao QZ, Ran X, Li ZS, Xia K, Liu CY^*, Sun ZS^*, Wu JY^*. Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database. Molecular Psychiatry, 2016, 21(2):290-297.

8. Cai WS^#, Mao FB^#, Teng HJ, Cai T, Zhao FQ, Wu JY^*, Sun ZS^*. MBRidge: an accurate and cost-effective method for profiling DNA methylome at single-base resolution. Journal of Molecular Cell Biology, 2015, 7(4):299-313.

9. Li JC^#, Jiang Y^#, Wang T, Chen HQ, Xie Q, Shao QZ, Ran X, Xia K, Sun ZS^*，Wu JY^*. mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing. Journal of Medical Genetics, 2015, 52(4):275-281.

10. Ran X^#, Li JC^#, Shao QZ, Chen HQ, Lin ZD, Sun ZS^*, Wu JY^*. EpilepsyGene: a genetic resource for genes and mutations related to epilepsy. Nucleic Acids Research, 2015, 43:D893-D899.

11. Xie Q^#, Liu Q^#, Mao FB, Cai WS, Wu HH, You MC, Wang Z, Chen BY, Sun ZS^*, Wu, JY^*. A Bayesian Framework to Identify Methylcytosines from High-Throughput Bisulfite Sequencing Data. PLoS Computational Biology. 2014, 10(9):e1003853.

12. Wang T^#, Liu Q^#, Li XF, Wang XB, Li JC, Zhu XC, Sun ZS^*, Wu JY^*. RRBS-analyser: a comprehensive web server for reduced representation bisulfite sequencing data analysis. Human Mutation 2013;34(12):1606-10.

13. Wu JY, Liu Q, Wang X, Zheng JY, Wang T, You MC, Sun ZS^*, Shi QH^*. mirTools 2.0 for non-coding RNA discovery, profiling, and functional annotation based on high-throughput sequencing. RNA Biology. 2013;10(7):1087-92.

14. Bi C^#, Wu JY^#, Jiang T, Liu Q, Cai WS, Yu P, Cai T, Zhao M, Jiang YH^*, Sun ZS^*. Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility. Human Mutation. 2012, 33(12):1635-8.

15. Wu JY, Shen EJ, Shi DS, Sun ZS, Cai T^*. Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whole-exome sequencing. Genetics in Medicine. 2012, 14(9):823-6.

16. Zhu EL^#, Zhao FQ^#, Zhou LL, Hou HB, Xu G, Bao QY, Sun ZS^* and Wu JY^*. mirTools: microRNA profiling and discovery based on high-throughput sequencing. Nucleic Acids Research 2010 38 Suppl: W392-7.

17. Hou HB^#, Zhao FQ^#, Zhou LL, Zhu EL, Teng HJ, Li XK, Bao QY, Wu JY^* and Sun ZS^*. MagicViewer: integrated solution for next-generation sequencing data visualization and genetic variation detection and annotation. Nucleic Acids Research 2010 38 Suppl: W732-6.

18. Bai J^#, Wang JR^#, Xue F^#, Xu G, Bao QY, Yan J ^*and Wu JY^*. proTF: a comprehensive data and phylogenomics resource for prokaryotic transcription factors. Bioinformatics 2010, 26(19):2493-5.

19. Xu X^#, Wu JY^#, Xiao J, Tan Y, Bao QY^*, Zhao FQ^* and Li XK^*. PlasmoGF: an integrated system for comparative genomics and phylogenetic analysis of Plasmodium gene families. Bioinformatics 2008 24(9): 1217-20.

二、获得资助课题项目：

1. 《 新生突变在全基因组上非随机分布的内在原因及规律研究》，国家自然科学基金面上项目，2018-01至2021-12，主持人，资助金额56万元。

2. 《基于de novo突变准确筛选致病基因及其在自闭症和智力残疾中的应用》，国家自然科学基金面上项目，2016-01至2019-12，主持人，资助金额60万元。

3. 《基于高通量测序的DNA甲基化分析软件的开发及其在卵巢癌中的应用》，国家自然科学基金面上项目，2012-01至2015-12，主持人，项目编号31171236，资助金额60万元。

4. 《与重要疾病相关的基因组学和生物信息学技术》，国家高技术研究发展计划(863计划)项目，2012-2015，子课题负责人，资助金额195万元。

5. 《抑郁症母亲影响子代行为的表观遗传标志物全基因组扫描》，国家国际科技合作项目，2011-2013，子课题负责人，资助金额30万元。

6. 《病原细菌转录因子生物信息学预测与整合分析平台的搭建》，国家自然科学青年基金，2009-01至2011-12，主持人，资助金额18万元。

7. 《高通量挖掘肺炎克雷伯菌质粒基因组耐药基因及其遗传变异规律的研究》，浙江省自然科学基金，2010-01至2011-12，主持人，资助金额8万元。

8. 《基于高通量测序的DNA甲基化分析软件的开发》，浙江省科技厅项目，2011-2013，主持人，资助金额5万元。