张文倩（zhangwenqian1@bgi.com），从事疾病多组学研究十余年，已发表SCI文章近三十篇，其中以第一作者/共同第一作者/通讯作者在Journal of Infection，Genome Biology, Bioinformatics等期刊发表11篇，专著1篇，专利1项，作品著作1项。参与省级重大项目2项。
研究方向：
1.基于高通量测序技术进行遗传性疾病的精准分子诊断，深入探索疾病特征及致病机理；开展NIPT、地中海贫血、耳聋、携带者筛查等临床医学基因检测的大规模人群筛查临床科研，并进行疾病的群体遗传学、流行病学和卫生经济学评价研究。
2.基于高通量测序技术进行传感染性疾病的精准鉴定，并进行分子流行病学、耐药性监测评估、病原体基因组学和毒力因子分析、分子进化、感染机制、宿主易感性等研究。
3.结直肠癌、宫颈癌等肿瘤的大规模人群筛查临床科研。
现任岗位：华大基因 运营部 临床科研总监
教育背景：丹麦哥本哈根大学 遗传学与基因组学 博士
参与项目：
1.成神经细胞瘤转录组学特征及临床终点预测
2.第二代测序技术在地中海贫血高发地区的防控应用研究
3.卵巢透明细胞癌精准诊疗研究及临床转化体系构建
论文：
1.W Zhang*, X Han*, J Deng, R Zhou, X Du, C Wu, M Li. Two Novel α-Thalassemia Mutations CD 39 -C [Thr > Pro] and CD 109 ACC > CCC [Thr > Pro] Identified in Two Chinese Families: A Case Report. Hemoglobin. 2023 Nov;47(4):172-179.
2.X Xie, J Gan, Z Liu, Y Zhou, K Yuan, Z Chen, S Chen, R Zhou, L Liu, X Huang, Y Zhang, Q Liu, W Zhang†, J Huang†, J Chen†. Prevalence and genetic analysis of triplicated α-globin gene in Ganzhou region using high-throughput sequencing. Front Genet. 2023 Oct 19;14:1267892.
3.S Xu*, W Zhang*, R Zhou*, H Huang, W Chen, W Xiang, L Liu, & J Song. (2022). Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly. Clinical dysmorphology, 31(1), 1-5.
4.S Luo*, B Bi*, W Zhang*, R Zhou, W Chen, P Zhao, Y Huang, L Yuan, X He. (2021). Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann-Steiner syndrome. Molecular genetics & genomic medicine, 9(10), e1798.
5.W Zhang, Y Yu, F Hertwig, J Thierry-Mieg, W Zhang, D Thierry-Mieg, J Wang, C Furlanello, V Devanarayan, J Cheng, et al. 2015. Comparison of RNA-Seq and microarray based models for clinical endpoint prediction. Genome Biology, 16:133.
6.W Zhang, H W Ng, M Shu, H Luo, Z Su, W Ge, R Perkins, W Tong and H Hong. 2015. Comparing genetic variants detected in the 1000 genomes project with SNPs determined by the International HapMap Consortium. Journal of Genetics,94: 731–740.
7.W Zhang,V Soika, J Meehan, Z Su, W Ge, HW Ng, R Perkins, V Simonyan, W Tong, H Hong. 2015 Quality control metrics improve repeatability and reproducibility of single-nucleotide variants derived from whole genome sequencing. The Pharmacogenomics Journal, 15(4):298-309.
8.W Zhang, J Meehan, Z Su, HW Ng, M Shu, H Luo, W Ge, R Perkins, W Tong, H Hong. 2014. Whole genome sequencing of 35 individuals provides insights into the genetic architecture of Korean population. BMC Bioinformatics, 15(Suppl 11):S6
9.J Wu*, W Zhang*,S Huang, Z He, Y Cheng, J Wang, TW Lam, Z Peng, SM Yiu. 2013. SOAPfusion: a robust and effective computational fusion discovery tool for RNA-seq reads. Bioinformatics 29(23): 2971-2978. (*co-first author)
10.W Zhang, W Wu, W Lin, P Zhou, L Dai, Y Zhang, J Huang, D Zhang. 2010. Deciphering Heterogeneity in Pig Genome Assembly Sscrofa9 by Isochore and Isochore-Like Region Analyses. PLoS ONE5(10): e13303.
