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《医学前沿(英文)》 页码 889-906 doi: 10.1007/s11684-023-0994-x
关键词: primary central nervous system lymphoma whole-genome sequencing TMSB4X copy number variation gene mutation
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《医学前沿(英文)》 2018年 第12卷 第1期 页码 23-33 doi: 10.1007/s11684-017-0607-7
Two decades have passed since the first bacterial whole-genome sequencing, which provides new opportunity for microbial genome. Consequently, considerable genetic diversity encoded by bacterial genomes and among the strains in the same species has been revealed. In recent years, genome sequencing techniques and bioinformatics have developed rapidly, which has resulted in transformation and expedited the application of strategy and methodology for bacterial genome comparison used in dissection of infectious disease epidemics. Bacterial whole-genome sequencing and bioinformatic computing allow genotyping to satisfy the requirements of epidemiological study in disease control. In this review, we outline the significance and summarize the roles of bacterial genome sequencing in the context of bacterial disease control and prevention. We discuss the applications of bacterial genome sequencing in outbreak detection, source tracing, transmission mode discovery, and new epidemic clone identification. Wide applications of genome sequencing and data sharing in infectious disease surveillance networks will considerably promote outbreak detection and early warning to prevent the dissemination of bacterial diseases.
关键词: genome sequencing genomic epidemiology bacteria surveillance infectious diseases
Plastic materials and water sources actively select and shape wastewater plastispheres over time
《环境科学与工程前沿(英文)》 2022年 第16卷 第11期 doi: 10.1007/s11783-022-1580-1
● Wastewater MPs exhibited resistomes and therefore health threats.
关键词: Microplastics Whole-genome metagenomic sequencing Plastisphere Plastic degradation MHETase
Exploring the cancer genome in the era of next-generation sequencing
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《医学前沿(英文)》 2012年 第6卷 第1期 页码 48-55 doi: 10.1007/s11684-012-0182-x
The emergence of next-generation sequencing technologies has led to dramatic advances in cancer genome studies. The increased efficiency and resolution of next-generation sequencing greatly facilitate the detection of genetic, genomic, and epigenomic alterations, such as single nucleotide mutations, small insertions and deletions, chromosomal rearrangements, copy number variations, and DNA methylation. Comprehensive analysis of cancer genomes through approaches of whole genome, exome, and transcriptome sequencing has significantly improved the understanding of cancer biology, diagnosis, and therapy. The present study briefly reviews the recent pioneering studies on cancer genome sequencing and provides an unprecedented insight into the landscape of genomic alterations in human sporadic cancers.
关键词: next-generation sequencing cancer genome whole genome sequencing exome transcriptome
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《医学前沿(英文)》 2015年 第9卷 第3期 页码 322-330 doi: 10.1007/s11684-015-0408-9
This study systematically evaluates the TCGA whole-transcriptome sequencing data of hepatocellular carcinoma (HCC) by comparing the global gene expression profiles between tumors and their corresponding non-tumorous liver tissue. Based on the differential gene expression analysis, we identified a number of novel dysregulated genes, in addition to those previously reported. Top-listing upregulated (CENPF and FOXM1) and downregulated (CLEC4G, CRHBP, and CLEC1B) genes were successfully validated using qPCR on our cohort of 65 pairs of human HCCs. Further examination for the mechanistic overview by subjecting significantly upregulated and downregulated genes to gene set enrichment analysis showed that different cellular pathways were involved. This study provides useful information on the transcriptomic landscape and molecular mechanism of hepatocarcinogenesis for development of new biomarkers and further in-depth characterization.
Exome sequencing greatly expedites the progressive research of Mendelian diseases
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《医学前沿(英文)》 2014年 第8卷 第1期 页码 42-57 doi: 10.1007/s11684-014-0303-9
The advent of whole-exome sequencing (WES) has facilitated the discovery of rare structure and functional genetic variants. Combining exome sequencing with linkage studies is one of the most efficient strategies in searching disease genes for Mendelian diseases. WES has achieved great success in the past three years for Mendelian disease genetics and has identified over 150 new Mendelian disease genes. We illustrate the workflow of exome capture and sequencing to highlight the advantages of WES. We also indicate the progress and limitations of WES that can potentially result in failure to identify disease-causing mutations in part of patients. With an affordable cost, WES is expected to become the most commonly used tool for Mendelian disease gene identification. The variants detected cumulatively from previous WES studies will be widely used in future clinical services.
关键词: genetics whole-exome sequencing Mendelian disease disease gene
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《医学前沿(英文)》 2013年 第7卷 第3期 页码 280-289 doi: 10.1007/s11684-013-0265-3
Many gene fusions have been recognized as important diagnostic and/or prognostic markers in human malignancies. In recent years, novel gene fusions have been identified in cases without prior knowledge of the genetic background. Accompanied by a powerful computational data analysis method, new genome-wide screening approaches were used to detect cryptic genomic aberrations. This review focused on advanced genome-wide screening approaches in fusion gene identification, such as microarray-based approaches, next-generation sequencing, and NanoString nCounter gene expression system. The fundamental rationale and strategy for fusion gene identification using each biotech platform are also discussed.
关键词: gene fusion cancer microarray next-generation sequencing NanoString nCounter system
An introduction to the medicinal plant genome project
Shilin Chen, Li Xiang, Xu Guo, Qiushi Li
《医学前沿(英文)》 2011年 第5卷 第2期 页码 178-184 doi: 10.1007/s11684-011-0131-0
A novel variant in the gene in a large Chinese family with a unique phenotype of Clouston syndrome
《医学前沿(英文)》 2023年 第17卷 第2期 页码 330-338 doi: 10.1007/s11684-022-0933-2
关键词: Clouston syndrome whole exome sequencing GJB6 gene novel variant unique phenotype
Genome-wide analysis reveals selection for Chinese Rongchang pigs
Lei CHEN, Shilin TIAN, Long JIN, Zongyi GUO, Dan ZHU, Lan JING, Tiandong CHE, Qianzi TANG, Siqing CHEN, Liang ZHANG, Tinghuan ZHANG, Zuohua LIU, Jinyong WANG, Mingzhou LI
《农业科学与工程前沿(英文)》 2017年 第4卷 第3期 页码 319-326 doi: 10.15302/J-FASE-2017161
The development and application of genome editing technology in ruminants: a review
Mengke YUAN, Yuanpeng GAO, Jing HAN, Teng WU, Jingcheng ZHANG, Yongke WEI, Yong ZHANG
《农业科学与工程前沿(英文)》 2020年 第7卷 第2期 页码 171-180 doi: 10.15302/J-FASE-2019302
Transgenic ruminants are a valuable resource for both animal breeding and biomedical research. The development of transgenic breeding is proceeding slowly, because it suffers from low efficiency of gene transfer and possible safety problems from uncontrolled random integration. However, new breeding methods combined with genome editing and somatic cell nuclear transfer or microinjection can offer an economic and efficient way to produce gene-edited ruminants, which can serve as bioreactors or have improved disease resistance, animal welfare and product quality. Recent advances in precise genome editing technologies, especially clustered regularly interspaced short palindromic repeat (CRISPR)/Cas9 nucleases, are enabling the systematic development of gene-edited ruminant production. This review covers the development of gene-edited ruminants, the particulars of site-specific engineered nucleases and the state of the art and new insights into practical applications and social acceptance of genome editing technology in ruminants. It is concluded that the production of gene-edited ruminants is feasible and through improvements in genome editing technology it is possible to help feed the world.
关键词: bioreactors breeding engineered endonucleases genome editing ruminants
Lei WANG, Jing LIU
《能源前沿(英文)》 2013年 第7卷 第3期 页码 317-332 doi: 10.1007/s11708-013-0271-9
关键词: liquid metal material genome energy material material discovery advanced material room-temperature liquid alloy thermodynamics phase diagram
信息科学应引领未来的生物医学研究 Perspective
Kenta Nakai
《工程(英文)》 2019年 第5卷 第6期 页码 1155-1158 doi: 10.1016/j.eng.2019.07.023
笔者从长期回顾的角度阐述了对人工智能(AI)/数据科学与生物医学之间关系的看法。随着新技术的不断出现,现代生物医学的发展持续加速。由于所有生命系统基本上都受其自身DNA中信息的支配,因此信息科学对生物医学的研究具有特别重要的意义。与物理学不同,在生物学中没有发现(或很少有)主导定律。因此,在生物学中,“数据到知识”方法很重要。人工智能在历史上一直应用于生物医学,最近的新闻表明,基于人工智能的方法在国际蛋白质结构预测竞争中获得了最佳性能,这可能被视为该领域的另一个里程碑。类似的方法可能有助于解决基因组序列解释中的问题,如确定患者基因组中的癌症驱动突变。最近,新一代测序(NGS)的爆炸性发展已产生大量数据,并且这种趋势将加速。NGS不仅用于“读取”DNA序列,而且还用于在单细胞水平上获得各种类型的信息。这些数据可以视为气候模拟中的网格数据点。数据科学和人工智能对于这些数据的综合解释/模拟都将变得至关重要,并将在未来的精密医学中起主导作用。
《工程管理前沿(英文)》 页码 439-454 doi: 10.1007/s42524-022-0211-7
关键词: megaproject organizational evolution whole lifecycle management project management team
《农业科学与工程前沿(英文)》 2022年 第9卷 第2期 页码 309-311 doi: 10.15302/J-FASE-2022440
标题 作者 时间 类型 操作
Analysis of the genomic landscape of primary central nervous system lymphoma using whole-genome sequencing
期刊论文
Transforming bacterial disease surveillance and investigation using whole-genome sequence to probe the
null
期刊论文
Plastic materials and water sources actively select and shape wastewater plastispheres over time
期刊论文
TCGA whole-transcriptome sequencing data reveals significantly dysregulated genes and signaling pathways
null
期刊论文
Identification of cancer gene fusions based on advanced analysis of the human genome or transcriptome
null
期刊论文
A novel variant in the gene in a large Chinese family with a unique phenotype of Clouston syndrome
期刊论文
Genome-wide analysis reveals selection for Chinese Rongchang pigs
Lei CHEN, Shilin TIAN, Long JIN, Zongyi GUO, Dan ZHU, Lan JING, Tiandong CHE, Qianzi TANG, Siqing CHEN, Liang ZHANG, Tinghuan ZHANG, Zuohua LIU, Jinyong WANG, Mingzhou LI
期刊论文
The development and application of genome editing technology in ruminants: a review
Mengke YUAN, Yuanpeng GAO, Jing HAN, Teng WU, Jingcheng ZHANG, Yongke WEI, Yong ZHANG
期刊论文
Liquid metal material genome: Initiation of a new research track towards discovery of advanced energy
Lei WANG, Jing LIU
期刊论文
Organizational evolution of project management teams over the whole lifecycle of megaprojects: Case study
期刊论文