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Exome sequencing greatly expedites the progressive research of Mendelian diseases

Xuejun Zhang

Frontiers of Medicine 2014, Volume 8, Issue 1,   Pages 42-57 doi: 10.1007/s11684-014-0303-9

Abstract:

The advent of whole-exome sequencing (WES) has facilitated the discovery of rare structure and functionalCombining exome sequencing with linkage studies is one of the most efficient strategies in searchingWe illustrate the workflow of exome capture and sequencing to highlight the advantages of WES.

Keywords： genetics     whole-exome sequencing     Mendelian disease     disease gene    

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Exploring the cancer genome in the era of next-generation sequencing

Hui Dong, Shengyue Wang

Frontiers of Medicine 2012, Volume 6, Issue 1,   Pages 48-55 doi: 10.1007/s11684-012-0182-x

Abstract:

The emergence of next-generation sequencing technologies has led to dramatic advances in cancer genomeThe increased efficiency and resolution of next-generation sequencing greatly facilitate the detectionComprehensive analysis of cancer genomes through approaches of whole genome, exome, and transcriptomesequencing 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

Keywords： next-generation sequencing     cancer genome     whole genome sequencing     exome     transcriptome    

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A novel variant in the gene in a large Chinese family with a unique phenotype of Clouston syndrome

Frontiers of Medicine 2023, Volume 17, Issue 2,   Pages 330-338 doi: 10.1007/s11684-022-0933-2

Abstract: In previous studies, the focus has been mainly on gene sequencing, and there has been a lack of researchpatients and to provide a basis for further study of the pathogenesis of the disease, we performed whole-exomeand Sanger sequencing on a large Chinese Clouston syndrome pedigree.

Keywords： Clouston syndrome     whole exome sequencing     GJB6 gene     novel variant     unique phenotype    

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TCGA whole-transcriptome sequencing data reveals significantly dysregulated genes and signaling pathways

Daniel Wai-Hung Ho,Alan Ka-Lun Kai,Irene Oi-Lin Ng

Frontiers of Medicine 2015, Volume 9, Issue 3,   Pages 322-330 doi: 10.1007/s11684-015-0408-9

Abstract:

This study systematically evaluates the TCGA whole-transcriptome sequencing data of hepatocellular

Keywords： TCGA     whole-transcriptome sequencing     HCC     liver cancer    

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Analysis of the genomic landscape of primary central nervous system lymphoma using whole-genome sequencing

Frontiers of Medicine   Pages 889-906 doi: 10.1007/s11684-023-0994-x

Abstract: Whole-genome sequencing was performed on 68 newly diagnosed Chinese PCNSL samples, whose genomic characteristics

Keywords： primary central nervous system lymphoma     whole-genome sequencing     TMSB4X     copy number variation    

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Clinical characterization and diagnosis of cystic fibrosis through exome sequencing in Chinese infants

Liru Qiu, Fengjie Yang, Yonghua He, Huiqing Yuan, Jianhua Zhou

Frontiers of Medicine 2018, Volume 12, Issue 5,   Pages 550-558 doi: 10.1007/s11684-017-0567-y

Abstract: period of June 2013 to September 2014 with BS-like hypokalemic alkalosis, were diagnosed with CF through exomesequencing and sweat chloride measurement.from BS in Chinese infants with hypokalemic alkalosis and the significant diagnostic value of powerful exomesequencing for rare genetic diseases.

Keywords： cystic fibrosis     pseudo-Bartter syndrome     hypokalemic alkalosis     CFTR gene     mutations     infants     diagnosis    

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Identification of variants associated with sporadic thoracic aortic dissection: a case--control study

Frontiers of Medicine 2021, Volume 15, Issue 3,   Pages 438-447 doi: 10.1007/s11684-020-0826-1

Abstract: Whole exome sequencing was performed in 223 STAD patients and 414 healthy controls from the Chinese Han

Keywords： sporadic thoracic aortic dissection     exome sequencing     gene COL3A1     case–control study     extracellular    

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Transforming bacterial disease surveillance and investigation using whole-genome sequence to probe the

Biao Kan, Haijian Zhou, Pengcheng Du, Wen Zhang, Xin Lu, Tian Qin, Jianguo Xu

Frontiers of Medicine 2018, Volume 12, Issue 1,   Pages 23-33 doi: 10.1007/s11684-017-0607-7

Abstract:

Two decades have passed since the first bacterial whole-genome sequencing, which provides new opportunityIn recent years, genome sequencing techniques and bioinformatics have developed rapidly, which has resultedBacterial whole-genome sequencing and bioinformatic computing allow genotyping to satisfy the requirementsIn this review, we outline the significance and summarize the roles of bacterial genome sequencing inWide applications of genome sequencing and data sharing in infectious disease surveillance networks will

Keywords： genome sequencing     genomic epidemiology     bacteria     surveillance     infectious diseases    

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Plastic materials and water sources actively select and shape wastewater plastispheres over time

Frontiers of Environmental Science & Engineering 2022, Volume 16, Issue 11, doi: 10.1007/s11783-022-1580-1

Abstract:

● Wastewater MPs exhibited resistomes and therefore health threats.

Keywords： Microplastics     Whole-genome metagenomic sequencing     Plastisphere     Plastic degradation     MHETase    

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Organizational evolution of project management teams over the whole lifecycle of megaprojects: Case study

Frontiers of Engineering Management   Pages 439-454 doi: 10.1007/s42524-022-0211-7

Abstract: Project management teams are critical in the implementation of megaprojects, but their evolution throughout the project lifecycle has not been clearly explained. This paper explores the organizational evolution of megaproject management teams through a longitudinal retrospective case study of the Hong Kong–Zhuhai–Macao Bridge (HZMB) project. The organizational evolution is examined in terms of management objectives, management content, and organizational structure. The organizational evolution of the HZMB project management team exhibits stage differentiation with the coexistence of turbulence and stability. Changes in the external environment are the driving force for organizational evolution, whereas a flexible organizational strategy is critical in promoting this evolution. Basing on the HZMB case study, this paper summarizes six critical measures that facilitate the organizational evolution of megaproject management teams. Our findings add value to megaproject management theory and provide a better understanding of the dynamics and complexity of megaproject organizational management.

Keywords： megaproject     organizational evolution     whole lifecycle management     project management team    

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Cell surface protein engineering for high-performance whole-cell catalysts

Hajime Nakatani,Katsutoshi Hori

Frontiers of Chemical Science and Engineering 2017, Volume 11, Issue 1,   Pages 46-57 doi: 10.1007/s11705-017-1609-3

Abstract: surface proteins using genetic engineering, and is important for the development of high-performance whole-celldiscuss advanced methods for displaying multiple enzymes and a new method for the immobilization of whole-cell

Keywords： cell surface engineering     surface display     whole-cell catalysts     bioprocess    

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Efficient acetoin production from pyruvate by engineered whole-cell biocatalysis

Frontiers of Chemical Science and Engineering 2023, Volume 17, Issue 4,   Pages 425-436 doi: 10.1007/s11705-022-2229-0

Abstract: Moreover, the reusability of the cell catalysis was also tested, and the result illustrated that the whole-cellThis work therefore provided an efficient H. bluephagenesis whole-cell catalysis with a broad

Keywords： -acetolactate synthetase     α-acetolactate decarboxylase     Halomonas bluephagenesis     whole-cell    

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Whole-life Thinking and Engineering the Future

Roger Flanagan

Frontiers of Engineering Management 2014, Volume 1, Issue 3,   Pages 290-296 doi: 10.15302/J-FEM-2014040

Abstract: Whole-life thinking for engineers working on the built environment has become more important in a fastWhole-life thinking is not new, every project attempts to balance the initial capital cost with the operatingSystems thinking provides one approach to developing a more robust whole-life approach.New approaches are needed to produce more reliable whole-life predictions.Best value, rather than lowest cost, can be achieved by using whole-life appraisal as a part of the design

Keywords： whole-life thinking     systems thinking     complexity     chaos     risk management through life    

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Accurate quantification of 3′-terminal 2′-O-methylated small RNAs by utilizing oxidative deep sequencing

Frontiers of Medicine 2022, Volume 16, Issue 2,   Pages 240-250 doi: 10.1007/s11684-021-0909-7

Abstract: , we profiled 3′-terminal 2′-O-methyl plant miRNAs in the livers of rice-fed mice by oxidative deep sequencing

Keywords： small RNAs     2′-O-methylation     sequencing     RT-qPCR    

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Innovations of phosphorus sustainability: implications for the whole chain

Jianbo SHEN, Liyang WANG, Xiaoqiang JIAO, Fanlei MENG, Lin ZHANG, Gu FENG, Junling ZHANG, Lixing YUAN, Lin MA, Yong HOU, Tao ZHANG, Weifeng ZHANG, Guohua LI, Kai ZHANG, Fusuo ZHANG

Frontiers of Agricultural Science and Engineering 2019, Volume 6, Issue 4,   Pages 321-331 doi: 10.15302/J-FASE-2019283

Abstract: The innovation and feasibility of P sustainability are highlighted from the perspective of the whole

Keywords： P-use efficiency     recycling     sustainable management     the whole P chain    

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Title Author Date Type Operation

Exome sequencing greatly expedites the progressive research of Mendelian diseases

Xuejun Zhang

Journal Article

Exploring the cancer genome in the era of next-generation sequencing

Hui Dong, Shengyue Wang

Journal Article

A novel variant in the gene in a large Chinese family with a unique phenotype of Clouston syndrome

Journal Article

TCGA whole-transcriptome sequencing data reveals significantly dysregulated genes and signaling pathways

Daniel Wai-Hung Ho,Alan Ka-Lun Kai,Irene Oi-Lin Ng

Journal Article

Analysis of the genomic landscape of primary central nervous system lymphoma using whole-genome sequencing

Journal Article

Clinical characterization and diagnosis of cystic fibrosis through exome sequencing in Chinese infants

Liru Qiu, Fengjie Yang, Yonghua He, Huiqing Yuan, Jianhua Zhou

Journal Article

Identification of variants associated with sporadic thoracic aortic dissection: a case--control study

Journal Article

Transforming bacterial disease surveillance and investigation using whole-genome sequence to probe the

Biao Kan, Haijian Zhou, Pengcheng Du, Wen Zhang, Xin Lu, Tian Qin, Jianguo Xu

Journal Article

Plastic materials and water sources actively select and shape wastewater plastispheres over time

Journal Article

Organizational evolution of project management teams over the whole lifecycle of megaprojects: Case study

Journal Article

Cell surface protein engineering for high-performance whole-cell catalysts

Hajime Nakatani,Katsutoshi Hori

Journal Article

Efficient acetoin production from pyruvate by engineered whole-cell biocatalysis

Journal Article

Whole-life Thinking and Engineering the Future

Roger Flanagan

Journal Article

Accurate quantification of 3′-terminal 2′-O-methylated small RNAs by utilizing oxidative deep sequencing

Journal Article

Innovations of phosphorus sustainability: implications for the whole chain

Jianbo SHEN, Liyang WANG, Xiaoqiang JIAO, Fanlei MENG, Lin ZHANG, Gu FENG, Junling ZHANG, Lixing YUAN, Lin MA, Yong HOU, Tao ZHANG, Weifeng ZHANG, Guohua LI, Kai ZHANG, Fusuo ZHANG

Journal Article