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Exome sequencing greatly expedites the progressive research of Mendelian diseases

null

《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

摘要：

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

null

《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

摘要：

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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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

摘要： Clouston syndrome (OMIM #129500), also known as hidrotic ectodermal dysplasia type 2, is a rare autosomal dominant skin disorder. To date, four mutations in the GJB6 gene, G11R, V37E, A88V, and D50N, have been confirmed to cause this condition. In previous studies, the focus has been mainly on gene sequencing, and there has been a lack of research on clinical manifestations and pathogenesis. To confirm the diagnosis of this pedigree at the molecular level and summarize and analyse the clinical phenotype of patients and to provide a basis for further study of the pathogenesis of the disease, we performed whole-exome and Sanger sequencing on a large Chinese Clouston syndrome pedigree. Detailed clinical examination included histopathology, hair microscopy, and scanning electron microscopy. We found a novel heterozygous missense variant (c.134G>C:p.G45A) for Clouston syndrome. We identified a new clinical phenotype involving all nail needling pain in all patients and found a special honeycomb hole structure in the patients’ hair under scanning electron microscopy. Our data reveal that a novel variant (c.134G>C:p.G45A) plays a likely pathogenic role in this pedigree and highlight that genetic testing is necessary for the diagnosis of Clouston syndrome.

关键词： 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

null

《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

摘要：

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.

关键词： 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

《医学前沿（英文）》   页码 889-906 doi: 10.1007/s11684-023-0994-x

摘要： Primary central nervous system lymphoma (PCNSL) is an uncommon non-Hodgkin’s lymphoma with poor prognosis. This study aimed to depict the genetic landscape of Chinese PCNSLs. Whole-genome sequencing was performed on 68 newly diagnosed Chinese PCNSL samples, whose genomic characteristics and clinicopathologic features were also analyzed. Structural variations were identified in all patients with a mean of 349, which did not significantly influence prognosis. Copy loss occurred in all samples, while gains were detected in 77.9% of the samples. The high level of copy number variations was significantly associated with poor progression-free survival (PFS) and overall survival (OS). A total of 263 genes mutated in coding regions were identified, including 6 newly discovered genes (ROBO2, KMT2C, CXCR4, MYOM2, BCLAF1, and NRXN3) detected in ≥ 10% of the cases. CD79B mutation was significantly associated with lower PFS, TMSB4X mutation and high expression of TMSB4X protein was associated with lower OS. A prognostic risk scoring system was also established for PCNSL, which included Karnofsky performance status and six mutated genes (BRD4, EBF1, BTG1, CCND3, STAG2, and TMSB4X). Collectively, this study comprehensively reveals the genomic landscape of newly diagnosed Chinese PCNSLs, thereby enriching the present understanding of the genetic mechanisms of PCNSL.

关键词： primary central nervous system lymphoma     whole-genome sequencing     TMSB4X     copy number variation     gene mutation    

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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

《医学前沿（英文）》 2018年 第12卷 第5期   页码 550-558 doi: 10.1007/s11684-017-0567-y

摘要：

Cystic fibrosis (CF) is a fatal autosomal-recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. CF is characterized by recurrent pulmonary infection with obstructive pulmonary disease. CF is common in the Caucasian population but is rare in the Chinese population. The symptoms of early-stage CF are often untypical and may sometimes manifest as Bartter syndrome (BS)-like hypokalemic alkalosis. Therefore, the ability of doctors to differentiate CF from BS-like hypokalemic alkalosis in Chinese infants is a great challenge in the timely and accurate diagnosis of CF. In China, sporadic CF has not been diagnosed in children younger than three years of age to date. Three infants, who were initially admitted to our hospital over the period of June 2013 to September 2014 with BS-like hypokalemic alkalosis, were diagnosed with CF through exome sequencing and sweat chloride measurement. The compound heterozygous mutations of the CFTR gene were detected in two infants, and a homozygous missense mutation was found in one infant. Among the six identified mutations, two are novel point mutations (c.1526G>C and c.3062C>T) that are possibly pathogenic. The three infants are the youngest Chinese patients to have been diagnosed with sporadic CF at a very early stage. Follow-up examination showed that all of the cases remained symptom-free after early intervention, indicating the potential benefit of very early diagnosis and timely intervention in children with CF. Our results demonstrate the necessity of distinguishing CF from BS in Chinese infants with hypokalemic alkalosis and the significant diagnostic value of powerful exome sequencing for rare genetic diseases. Furthermore, our findings expand the CFTR mutation spectrum associated with CF.

关键词： 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

《医学前沿（英文）》 2021年 第15卷 第3期   页码 438-447 doi: 10.1007/s11684-020-0826-1

摘要： Thoracic aortic dissection (TAD) without familial clustering or syndromic features is known as sporadic TAD (STAD). So far, the genetic basis of STAD remains unknown. Whole exome sequencing was performed in 223 STAD patients and 414 healthy controls from the Chinese Han population (N = 637). After population structure and genetic relationship and ancestry analyses, we used the optimal sequence kernel association test to identify the candidate genes or variants of STAD. We found that COL3A1 was significantly relevant to STAD (P = 7.35 × 10−6) after 10 000 times permutation test (P = 2.49 × 10−3). Moreover, another independent cohort, including 423 cases and 734 non-STAD subjects (N = 1157), replicated our results (P = 0.021). Further bioinformatics analysis showed that COL3A1 was highly expressed in dissected aortic tissues, and its expression was related to the extracellular matrix (ECM) pathway. Our study identified a profile of known heritable TAD genes in the Chinese STAD population and found that COL3A1 could increase the risk of STAD through the ECM pathway. We wanted to expand the knowledge of the genetic basis and pathology of STAD, which may further help in providing better genetic counseling to the patients.

关键词： sporadic thoracic aortic dissection     exome sequencing     gene COL3A1     case–control study     extracellular matrix    

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

null

《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

摘要：

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    

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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

摘要：

● Wastewater MPs exhibited resistomes and therefore health threats.

关键词： 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

《工程管理前沿（英文）》   页码 439-454 doi: 10.1007/s42524-022-0211-7

摘要： 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.

关键词： 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

《化学科学与工程前沿（英文）》 2017年 第11卷 第1期   页码 46-57 doi: 10.1007/s11705-017-1609-3

摘要： Cell surface protein engineering facilitated by accumulation of information on genome and protein structure involves heterologous production and modification of cell surface proteins using genetic engineering, and is important for the development of high-performance whole-cell catalysts. In this field, cell surface display is a major technology by exposing target proteins, such as enzymes, on the cell surface using a carrier protein. The target proteins are fused to the carrier proteins that transport and tether them to the cell surface, as well as to a secretion signal. This paper reviews cell surface display systems for prokaryotic and eukaryotic cells from the perspective of carrier proteins, which determine the number of displayed molecules, and the localization, size, and direction ( or terminal anchoring) of the passengers. We also discuss advanced methods for displaying multiple enzymes and a new method for the immobilization of whole-cell catalysts using adhesive surface proteins.

关键词： cell surface engineering     surface display     whole-cell catalysts     bioprocess    

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Efficient acetoin production from pyruvate by engineered whole-cell biocatalysis

《化学科学与工程前沿（英文）》 2023年 第17卷 第4期   页码 425-436 doi: 10.1007/s11705-022-2229-0

摘要： Acetoin is an important platform chemical, which has a wide range of applications in many industries. Halomonas bluephagenesis, a chassis for next generation of industrial biotechnology, has advantages of fast growth and high tolerance to organic acid salts and alkaline environment. Here, α-acetolactate synthase and α-acetolactate decarboxylase from Bacillus subtilis 168 were co-expressed in H. bluephagenesis to produce acetoin from pyruvate. After reaction condition optimization and further increase of α-acetolactate decarboxylase expression, acetoin production and yield were significantly enhanced to 223.4 mmol·L–1 and 0.491 mol·mol–1 from 125.4 mmol·L–1 and 0.333 mol·mol–1, respectively. Finally, the highest titer of 974.3 mmol·L–1 (85.84 g·L–1) of acetoin was accumulated from 2143.4 mmol·L–1 (188.6 g·L–1) of pyruvic acid within 8 h in fed-batch bioconversion under optimal reaction conditions. Moreover, the reusability of the cell catalysis was also tested, and the result illustrated that the whole-cell catalysis obtained 433.3, 440.2, 379.0, 442.8 and 339.4 mmol·L–1 (38.2, 38.8, 33.4, 39.0 and 29.9 g·L–1) acetoin in five repeated cycles under the same conditions. This work therefore provided an efficient H. bluephagenesis whole-cell catalysis with a broad development prospect in biosynthesis of acetoin.

关键词： acetoin     pyruvate     α-acetolactate synthetase     α-acetolactate decarboxylase     Halomonas bluephagenesis     whole-cell biocatalysis    

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Whole-life Thinking and Engineering the Future

Roger Flanagan

《工程管理前沿（英文）》 2014年 第1卷 第3期   页码 290-296 doi: 10.15302/J-FEM-2014040

摘要： Whole-life thinking for engineers working on the built environment has become more important in a fast changing world. Whole-life thinking is not new, every project attempts to balance the initial capital cost with the operating and maintenance cost of an asset. Engineers are increasingly concerned with complex systems, in which the parts interact with each other and with the outside world in many ways — the relationships between the parts determine how the system behaves. Systems thinking provides one approach to developing a more robust whole-life approach. Systems thinking is a process of understanding how things influence one another within a wider perspective. Complexity, chaos, and risk are endemic in all major projects. 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 and delivery strategy.

关键词： 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

《医学前沿（英文）》 2022年 第16卷 第2期   页码 240-250 doi: 10.1007/s11684-021-0909-7

摘要： The continuing discoveries of novel classes of RNA modifications in various organisms have raised the need for improving sensitive, convenient, and reliable methods for quantifying RNA modifications. In particular, a subset of small RNAs, including microRNAs (miRNAs) and Piwi-interacting RNAs (piRNAs), are modified at their 3′-terminal nucleotides via 2′-O-methylation. However, quantifying the levels of these small RNAs is difficult because 2′-O-methylation at the RNA 3′-terminus inhibits the activity of polyadenylate polymerase and T4 RNA ligase. These two enzymes are indispensable for RNA labeling or ligation in conventional miRNA quantification assays. In this study, we profiled 3′-terminal 2′-O-methyl plant miRNAs in the livers of rice-fed mice by oxidative deep sequencing and detected increasing amounts of plant miRNAs with prolonged oxidation treatment. We further compared the efficiency of stem-loop and poly(A)-tailed RT-qPCR in quantifying plant miRNAs in animal tissues and identified stem-loop RT-qPCR as the only suitable approach. Likewise, stem-loop RT-qPCR was superior to poly(A)-tailed RT-qPCR in quantifying 3′-terminal 2′-O-methyl piRNAs in human seminal plasma. In summary, this study established a standard procedure for quantifying the levels of 3′-terminal 2′-O-methyl miRNAs in plants and piRNAs. Accurate measurement of the 3′-terminal 2′-O-methylation of small RNAs has profound implications for understanding their pathophysiologic roles in biological systems.

关键词： small RNAs     2′-O-methylation     sequencing     RT-qPCR    

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Innovations of phosphorus sustainability: implications for the whole chain

null

《农业科学与工程前沿（英文）》 2019年 第6卷 第4期   页码 321-331 doi: 10.15302/J-FASE-2019283

摘要：

Phosphorus (P) is a non-renewable resource, therefore ensuring global food and environmental security depends upon sustainable P management. To achieve this goal, sustainable P management in the upstream and downstream sectors of agriculture from mineral extraction to food consumption must be addressed systematically. The innovation and feasibility of P sustainability are highlighted from the perspective of the whole P-based chain, including the mining and processing of P rock, production of P fertilizers, soil and rhizosphere processes involving P, absorption and utilization of P by plants, P in livestock production, as well as flow and management of P at the catchment scale. The paper also emphasizes the importance of recycling P and the current challenges of P recovery. Finally, sustainable solutions of holistic P management are proposed from the perspective of technology improvement with policy support.

关键词： P-use efficiency     recycling     sustainable management     the whole P chain    

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标题 作者 时间 类型 操作

Exome sequencing greatly expedites the progressive research of Mendelian diseases

null

期刊论文

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

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

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

null

期刊论文

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

期刊论文

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

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

期刊论文

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

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

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

期刊论文

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

Hajime Nakatani,Katsutoshi Hori

期刊论文

Efficient acetoin production from pyruvate by engineered whole-cell biocatalysis

期刊论文

Whole-life Thinking and Engineering the Future

Roger Flanagan

期刊论文

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

期刊论文

Innovations of phosphorus sustainability: implications for the whole chain

null

期刊论文