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| 1 | Single-Cell Sequencing Technologies: Current and Future显示文摘Intensively developed in the last few years, single-cell sequencing technologies now present numerous advantages over traditional sequencing methods for solving the problems of biological heterogeneity and low quantities of available biological materials. The application of single-cell sequencing technologies has profoundly changed our understanding of a series of biological phenomena,including gene transcription, embryo development, and carcinogenesis. However, before single-cell sequencing technologies can be used extensively, researchers face the serious challenge of overcoming inherent issues of high amplification bias, low accuracy and reproducibility. Here, we simply summarize the techniques used for single-cell isolation, and review the current technologies used in single-cell genomic, transcriptomic, and epigenomic sequencing. We discuss the merits, defects, and scope of application of single-cell sequencing technologies and then speculate on the direction of future developments. | Jialong Liang Wanshi Cai Zhongsheng Sun | 2014 | Journal of Genetics and Genomics2014，41，10： | 20 |
| 2 | CT仿真支气管内窥镜在中央型肺癌诊断中的应用显示文摘目的 评价螺旋CT仿真支气管内窥镜 (CTVB)在中央型肺癌诊断中的作用。方法 对45例经纤维支气管镜检查和病理证实的气管、支气管肿瘤患者进行CT仿真内窥镜检查 ,包括中央型肺癌 33例、肺癌术后 8例、肺癌放疗后 2例及气管恶性肿瘤 2例。用新型螺旋CT机对患者进行扫描后 ,将数据建成CTVB图像进行分析 ,并与纤维支气管镜进行对照 ,2 4例与病理标本进行对照。结果CTVB显示了 10 0 %的段以上支气管和 80 %以上的亚段支气管。肿瘤呈块状或结节状 ,引起管腔狭窄或闭塞。肺癌术后正常的支气管残端呈光滑的盲端 ,肿瘤复发呈结节状突出 ,与纤维支气管镜所见基本一致。肺癌放疗后支气管腔轻度凹凸不平及管腔狭窄。结论 CTVB是一种新的无创性观察气管、支气管腔的方法 ,酷似纤维支气管镜所见 ,结合其他三维重建功能 ,能同时显示管壁的厚度和肿瘤向管腔外侵犯的范围。但与纤维支气管镜相比 ,不易观察支气管黏膜的表浅病变且不能活检。 | Xiong Minghui ZHANG Wanshi WANG Dong 熊明辉 张挽时 王东 宋云龙 | 2001 | 中华肿瘤杂志2001，23，2： | 7 |
| 3 | Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation显示文摘We report here the characterization of a five-generation Han Chinese family with Leber's hereditary optic neuropathy(LHON).Strikingly,this Chinese family displayed high penetrance and expressivity of visual loss.The average age-of-onset of vision loss was 18 years in this family.Nineteen(11 males/8 females) of 29 matrilineal relatives in this family developed visual loss with a wide range of severity,ranging from blindness to normal vision.Sequence analysis of mitochondrial genome in this pedigree revealed the presence of the ND4 G11778A mutation and 44 other variants belonging to Asian haplogroup M7b.The G11778A mutation is present at homoplasmy in matrilineal relatives of this Chinese family.Of other variants,the CO1 G6480A,ND5 T12811C and Cytb A15395G located at highly conserved residues of corresponding polypeptides.In fact,these variants were implicated to be involved in other clinical abnormalities.Here,these variants may act in synergy with the primary LHON-associated G11778A mutation.Thus,the mitochondrial dysfunction caused by the primary ND4 G11778A mutation may be worsened by these mitochondrial variants.The results imply that the G6480A,T12811C and A15395G variants might have a potential modifier role in increasing the penetrance and expressivity of the primary LHON-associated G11778A mutation in this Chinese family. | Wanshi Cai Qun Fu Xiangtian Zhou Jia Qu Yi Tong Min-Xin Guan | 2008 | Journal of Genetics and Genomics2008，35，11： | 4 |
| 4 | Genomic landscapes of Chinese sporadic autism spectrum disordersrevealed by whole-genome sequencing显示文摘Autism spectrum disorder (ASD) is a neurodevelopmental disorder with considerable clinical and genetic heterogeneity.In this study,we identified all classes of genomic variants from whole-genome sequencing (WGS) dataset of 32 Chinese trios with ASD,including de novo mutations,inherited variants,copy number variants (CNVs) and genomic structural variants.A higher mutation rate (Poisson test,P<2.2×10^(-16)) in exonic (1.37×10^(-8)) and 3'-UTR regions (1.42×10^(-8)) was revealed in comparison with that of whole genome (1.05×10^(-8)).Using an integrated model,we identified 87 potentially risk genes (P<0.01) from 4832 genes harboring various rare deleterious variants,including CHD8 and NRXN2,implying that the disorders may be in favor to multiple-hit.In particular,frequent rare inherited mutations of several microcephaly-associated genes (ASPM,WDR62,and ZNF335)were found in ASD.In chromosomal structure analyses,we found four de novo CNVs and one de novo chromosomal rearrangement event,including a de novo duplication of UBE3A-containing region at 15q11.2-q13.1,which causes Angelman syndrome and microcephaly,and a disrupted TNR due to de novo chromosomal translocation t (1;5) (q25.1;q33.2).Taken together,our results suggest that abnormalities of centrosomal function and chromatin remodeling of the microcephaly-associated genes may be implicated in pathogenesis of ASD.Adoption of WGS as a new yet efficient technique to illustrate the full genetic spectrum in complex disorders,such as ASD,could provide novel insights into pathogenesis,diagnosis and treatment. | Jinyu Wu Ping Yu Xin Jin Xiu Xu Jinchen Li Zhongshan Li Mingbang Wang Tao Wang Xueli Wu Yi Jiang Wanshi Cai Junpu Mei Qingjie Min Qiong Xu Bingrui Zhou Hui Guo Ping Wang Wenhao Zhou Zhengmao Hu Yingrui Li Tao Cai Yi Wang Kun Xia Yong-Hui Jiang Zhong Sheng Sun | 2018 | Journal of Genetics and Genomics2018，45，10： | 3 |
| 5 | Photoelectrochemical and photovoltaic properties of p-n Cu2O homojunction films and their photocatalytic performance显示文摘 | Jiang Tengfei Xie Tengfeng Yang Wanshi | 2013 | The Journal of Physical Chemistry C2013，117，9： | 1 |
| 6 | Relayingoperation in 3GPP LTE: challenges and solutions 显示文摘 | Hoymann C Chen Wanshi Montojo J | 2012 | IEEE Magazine on Communications2012，50，2： | 1 |
| 7 | An improved blind adaptive MMSE receiver for fast fading DS-CDMA Channels显示文摘 | Mitra Urbashi | 2001 | IEEE Journal on Selected Areas in Communication2001，19，8： | 1 |
| 8 | Photoinduced charge transfer process in p-Cu 2 O/n-Cu 2 O homojunction film and its photoelectric gas-sensing properties显示文摘 | Tengfei Jiang Tengfeng Xie Wanshi Yang Haimei Fan Dejun Wang | 2013 | Journal of Colloid And Interface Science2013，，： | 1 |
| 9 | Mutations of ANK3 identified by exome sequencing are associated with Autism susceptibility显示文摘 | Cheng Bi Jinyu Wu Tao Jiang Qi Liu Wanshi Cai Ping Yu Tao Cai Mei Zhao Yong‐hui Jiang Zhong Sheng Sun | 2012 | Hum Mutat2012，，12： | 1 |
| 10 | MBRidge: an accurate and cost-effective method for profiling DNA methylome at single-base resolution显示文摘Organisms and cells,in response to environmental influences or during development,undergo considerable changes in DNA methylation on a genome-wide scale,which are linked to a variety of biological processes.Using MethylC-seq to decipher DNA methylome at single-base resolution is prohibitively costly.In this study,we develop a novel approach,named MBRidge,to detect the methylation levels of repertoire CpGs,by innovatively introducing C-hydroxylmethylated adapters and bisulfate treatment into the MeDIP-seq protocol and employing ridge regression in data analysis.A systematic evaluation of DNA methylome in a human ovarian cell line T29 showed that MBRidge achieved high correlation(R>0.90)with much less cost(∼10%)in comparison with MethylC-seq.We further applied MBRidge to profiling DNA methylome in T29H,an oncogenic counterpart of T29’s.By comparing methylomes of T29H and T29,we identified 131790 differential methylation regions(DMRs),which are mainly enriched in carcinogenesis-related pathways.These are substantially different from7567 DMRs that were obtained by RRBS and related with cell development or differentiation.The integrated analysis ofDMRsin the promoterand expression of DMR-corresponding genes revealed thatDNAmethylation enforced reverse regulation of gene expression,depending on the distance fromthe proximalDMRto transcription starting sites in both mRNA and lncRNA.Taken together,our results demonstrate that MBRidge is an efficient and cost-effective method that can be widely applied to profiling DNA methylomes. | Wanshi Cai Fengbiao Mao Huajing Teng Tao Cai Fangqing Zhao Jinyu Wu Zhong Sheng Sun | 2015 | Journal of Molecular Cell Biology2015，7，4： | 0 |
| 11 | Androgen deprivation drives variation of androgen receptor trinucleotide repeats显示文摘Androgen deprivation therapy(ADT)is the conventional first-line treatment for prostate cancer[1,2].Unfortunately,after initial response to this therapy,some cases finally inevitably progress to androgen-independent refractory prostate cancer within 18–36 months[3,4].During the conversion to androgen independence,the androgen receptor(AR)-mediated signaling pathway is irregularly reactivated and plays a center role[5].So far,multiple AR-related mechanisms have been recorded and contributed to androgen independence,including AR amplification/overexpression,mutations,activated alternative splicing variants,coactivators,ligand-independent activation,and androgen-independent protein isoform[5].However,the roles of two polymorphic trinucleotide repeats(CAG and GGC)within exon 1 of AR gene in the conversion to androgen independence are still inconclusive. | Yongqing Wang Yan Wang Jialong Liang Wanshi Cai Zhongsheng Sun Yan Wang Huajing Teng | 2019 | Acta Biochimica et Biophysica Sinica2019，51，9： | 0 |
| 12 | Synthesis and Pharmacodynamics of Ibuprofen-l-acetoxyethyl Ester显示文摘 | WANG Bowei HOU Wanshi WANG Yingnan LI Shaoheng LIU Zhihui SONG Zhiguang | 2017 | Chemical Research in Chinese Universities2017，33，4： | 0 |
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