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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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Identification of cancer gene fusions based on advanced analysis of the human genome or transcriptome

null

《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

摘要：

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

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Liquid-based high-temperature receiver technologies for next-generation concentrating solar power: A

《能源前沿（英文）》 2023年第17卷第1期页码 16-42 doi: 10.1007/s11708-023-0866-8

摘要： To reduce the levelized cost of energy for concentrating solar power (CSP), the outlet temperature of the solar receiver needs to be higher than 700 °C in the next-generation CSP. Because of extensive engineering application experience, the liquid-based receiver is an attractive receiver technology for the next-generation CSP. This review is focused on four of the most promising liquid-based receivers, including chloride salts, sodium, lead-bismuth, and tin receivers. The challenges of these receivers and corresponding solutions are comprehensively reviewed and classified. It is concluded that combining salt purification and anti-corrosion receiver materials is promising to tackle the corrosion problems of chloride salts at high temperatures. In addition, reducing energy losses of the receiver from sources and during propagation is the most effective way to improve the receiver efficiency. Moreover, resolving the sodium fire risk and material compatibility issues could promote the potential application of liquid-metal receivers. Furthermore, using multiple heat transfer fluids in one system is also a promising way for the next-generation CSP. For example, the liquid sodium is used as the heat transfer fluid while the molten chloride salt is used as the storage medium. In the end, suggestions for future studies are proposed to bridge the research gaps for > 700 °C liquid-based receivers.

关键词： next-generation concentrating solar power liquid-based solar receiver molten salt liquid metals

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Potential unreliability of variant allele frequency in the efficacy prediction of targeted therapy in NSCLC

《医学前沿（英文）》 doi: 10.1007/s11684-022-0946-x

摘要： Anaplastic lymphoma kinase (ALK) is the most common fusion gene involved in non-small cell lung cancer (NSCLC), and remarkable response has been achieved with the use of ALK tyrosine kinase inhibitors (ALK-TKIs). However, the clinical efficacy is highly variable. Pre-existing intratumoral heterogeneity (ITH) has been proven to contribute to the poor treatment response and the resistance to targeted therapies. In this work, we investigated whether the variant allele frequencies (VAFs) of ALK fusions can help assess ITH and predict targeted therapy efficacy. Through the application of next-generation sequencing (NGS), 7.2% (326/4548) of patients were detected to be ALK positive. On the basis of the adjusted VAF (adjVAF, VAF normalization for tumor purity) of four different threshold values (adjVAF < 50%, 40%, 30%, or 20%), the association of ALK subclonality with crizotinib efficacy was assessed. Nonetheless, no statistical association was observed between median progression-free survival (PFS) and ALK subclonality assessed by adjVAF, and a poor correlation of adjVAF with PFS was found among the 85 patients who received first-line crizotinib. Results suggest that the ALK VAF determined by hybrid capture-based NGS is probably unreliable for ITH assessment and targeted therapy efficacy prediction in NSCLC.

关键词： ALK fusion next-generation sequencing fluorescence in situ hybridization immunohistochemistry variant allele frequency intratumoral heterogeneity targeted therapy

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Towards a next-generation production system for industrial robots: A CPS-based hybrid architecture for

Qingmeng TAN, Yifei TONG, Shaofeng WU, Dongbo LI

《机械工程前沿（英文）》 2020年第15卷第1期页码 1-11 doi: 10.1007/s11465-019-0563-9

摘要： Given the multiple varieties and small batches, the production of industrial robots faces the ongoing challenges of flexibility, self-organization, self-configuration, and other “smart” requirements. Recently, cyber physical systems have provided a promising solution for the requirements mentioned above. Despite recent progress, some critical issues have not been fully addressed at the shop floor level, including dynamic reorganization and reconfiguration, ubiquitous networking, and time constrained computing. Toward the next generation production system for industrial robots, this study proposed a hybrid architecture for smart assembly shop floors with closed-loop dynamic cyber physical interactions. Aiming for dynamic reorganization and reconfiguration, the study also proposed modularized smart assembly units for the deployment of physical assembly processes. Enabling technologies, such as multiagent system (MAS), self-organized wireless sensor actuator networks, and edge computing, were discussed and then integrated into the proposed architecture. Furthermore, a multijoint robot assembly process was selected as a target scenario. Thus, an MAS was developed to simulate the coordination and negotiation mechanisms for the proposed architecture on the basis of the Java Agent Development Framework platform.

关键词： cyber physical system robot assembly multiagent system architecture

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航空发动机下一代适航规章制定策略和技术路径

尹泽勇,丁水汀,李果,邱天,刘传凯,周煜,綦蕾

《中国工程科学》 2022年第24卷第4期页码 230-239 doi: 10.15302/J-SSCAE-2022.04.020

摘要：

适航规章是民用航空产品安全性的核心保障，是民航强国、航空强国的重要标志。完善的适航规章体系是民用航空工业发达国家合理利用国际民航组织规则，保障民用航空产品安全性和最广泛市场占有率的技术与管理手段；随着我国大型飞机、航空发动机和燃气轮机重大科技专项的实施，进一步完善我国适航规章体系建设必要且紧迫。本文深入剖析了航空发动机适航规章的技术内涵，系统梳理了当前国内外航空发动机适航规章存在的突出问题，在此基础上从国际民航组织和我国民用航空工业两个视角，开展了下一代航空发动机适航规章的制定策略和技术路径研究。本文研究结果明确了以“系统安全要求”为统领，以“安全等效、逻辑清晰、国际兼容、本土适用”为原则的航空发动机下一代适航规章制定策略和技术路径；提出了航空发动机适航规章顶层新架构，该架构在充分继承国际上已有经验教训、安全标准不降低的同时，更加适应航空发动机在系统安全性技术方面的进步，且可灵活适应航空发动机新技术发展和创新。最后，针对我国航空发动机适航规章体系建设，提出了持续深化研究、同步扩大应用、行业协同发展的对策建议。

关键词：下一代适航规章航空发动机新规章架构系统安全要求

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量子密码竞赛产生下一代标准算法

Chris Palmer

《工程（英文）》 2023年第21卷第2期页码 6-8 doi: 10.1016/j.eng.2022.12.002

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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

摘要：

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。

关键词：数据科学人工智能下一代测序脱氧核糖核酸癌症基因组单细胞转录组学

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新一代成像技术——通过多色显微术拓展对肝脏生物学和肝病的认知

Felix Heymann, Adrien Guillot, Moritz Peiseler, Frank Tacke

《工程（英文）》 2022年第9卷第2期页码 17-21 doi: 10.1016/j.eng.2021.06.015

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Effectively cultivate the next generation of competent Chinese physicians: a perspective from a physician

Zongyu John CHEN,

《医学前沿（英文）》 2010年第4卷第4期页码 473-476 doi: 10.1007/s11684-010-0290-4

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Emerging technologies to power next generation mobile electronic devices using solar energy

Dewei JIA , Yubo DUAN , Jing LIU ,

《能源前沿（英文）》 2009年第3卷第3期页码 262-288 doi: 10.1007/s11708-009-0015-z

摘要： Mobile electronic devices such as MP3, mobile phones, and wearable or implanted medical devices have already or will soon become a necessity in peoples’ lives. However, the further development of these devices is restricted not only by the inconvenient charging process of the power module, but also by the soaring prices of fossil fuel and its downstream chain of electricity manipulation. In view of the huge amount of solar energy fueling the world biochemically and thermally, a carry-on electricity harvester embedded in portable devices is emerging as a most noteworthy research area and engineering practice for a cost efficient solution. Such a parasitic problem is intrinsic in the next generation portable devices. This paper is dedicated to presenting an overview of the photovoltaic strategy in the chain as a reference for researchers and practitioners committed to solving the problem.

关键词： photovoltaic conversion energy harvesting solar cell maximum power point track algorithm PV electricity storage mobile/standalone PV application

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美国高温气冷堆现状 Review

Andrew C. Kadak

《工程（英文）》 2016年第2卷第1期页码 119-123 doi: 10.1016/J.ENG.2016.01.026

摘要：

2005 年，美国国会通过了《2005年能源政策法案》，该法案授权在2021年之前建造和运行一个高温气冷堆(HTGR)。在美国国内专家对未来核技术发展方向进行了多年的研究后，该法案才得以通过。作为该法案的结果，美国国会设立了名为“下一代核电站”的项目，这是一种为制氢提供工艺用热的HTGR。尽管HTGR被寄予了很高的期望，但其现状仅限于完成关于先进燃料、石墨和其他材料的研究计划，并不是如国会在2005年提出的建造一个示范电站。HTGR 发展目标降低背后有许多原因，包括：用于研究的政府资金不足，对反应堆不切实际的高温要求，对“氢”经济需求的延迟，来自轻水冷却的小型模块反应堆的竞争，业主公司对新技术的兴趣较低，美国天然气价格过低，以及美国对非水冷反应堆许可证申请的具有挑战性的流程等。

关键词：高温气冷堆下一代核电站许可证申请 (美国) 核管理委员会《2005年能源政策法案》研究现状

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面向金融场景的下一代数据库测试基准研究

荆一楠 ,张寒冰,李智鑫 ,王晓阳 ,吴杰,柴洪峰

《中国工程科学》 2022年第24卷第4期页码 121-132 doi: 10.15302/J-SSCAE-2022.04.014

摘要：

银行是我国最主要的金融主体，对数据库及数据服务解决方案有着更高的性能与安全要求。随着金融数据应用服务的快速发展，银行数据库所涉及的数据类型、业务场景更加多样化，用户很难在种类繁多的数据库产品和数据服务解决方案中做出最优选择。为此，结合金融行业的数据应用发展需求，本文通过采用文献调研和理论分析等方法，全面分析了银行数据库的应用现状，特别是近几年数据库国产化替代的情况与面临的挑战，系统调研了国内外主要的数据库测试基准，展望了构建面向金融场景的下一代数据库测试基准的必要性和重要性。研究发现，由于金融场景中业务逻辑更复杂、数据模式更多样、安全性要求更高等多方面原因，现有数据库测试基准在应对金融场景下的数据库测试时存在多处不足，面临着诸多挑战，基于此，本文从工作负载、数据模式、度量指标以及技术架构等方面出发，对面向金融场景的下一代数据库测试基准的构建提出针对性建议和要求。

关键词：金融业银行金融数据数据库测试基准

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基于新一代信息技术的能源与矿业治理体系发展战略研究

王国法,张铁岗,王成山,庞义辉,杨挺,孙春生,胡亚辉,张鹏

《中国工程科学》 2022年第24卷第1期页码 176-189 doi: 10.15302/J-SSCAE-2022.01.019

摘要：

本文针对我国能源与矿业安全发展面临的风险与挑战，分析了碳达峰、碳中和目标下我国能源需求变化及发展格局，发现新能源和化石能源相互助力、耦合发展将是今后我国形成多种能源融合稳定供给的必由之路。文章研究了5G、大数据、区块链、人工智能等新一代信息技术的特点及其在能源与矿业领域的应用前景，提出了基于新一代信息技术助力我国能源与矿业治理体系变革的技术路径，从能源生产、能源运输、能源消费、能源市场与政府监管五大环节详细论述了新一代信息技术与能源矿业开发利用技术融合发展的技术方向及应用场景，阐述了新一代信息技术支撑能源与矿业治理体系重构，构建能源矿业体系治理新模式的战略思路，提出加强基础理论与技术装备研发、支持能源与矿业领域新基建、提供政策资金保障及建立国家能源与矿业安全生产和交易智能化平台等建议。

关键词：能源安全，新一代信息技术，能源与矿业，政府监管，治理体系

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下一代锂电池在能源化学工程方面的研究进展 Review

张学强, 赵辰孜, 黄佳琦, 张强

《工程（英文）》 2018年第4卷第6期页码 831-847 doi: 10.1016/j.eng.2018.10.008

摘要：

锂离子电池（LIB）对当今人们的生活产生了深远的影响。然而由于插层化学本质上的限制，锂离子电池的能量密度已接近理论上限，难以满足人们在多方面日益增长的储能需求，如便携式电子设备、电动汽车和大规模储能。因此，下一代锂（Li）电池正在广泛研究中。其中，采用金属锂作为负极，插层或转化型材料作为正极的下一代锂电池是最受关注的体系，因其具有高能量密度和巨大的商业化潜力。近年来，随着材料和反应机理方面研究的深入以及技术手段的进步，锂电池取得了不断的发展。本文从下一代锂电池的电解液/ 电解质的设计出发，从能源化学工程的角度梳理锂离子电池、锂硫电池和锂空电池中的关键科学问题和研究进展，并阐述下一代锂电池未来的发展方向。下一代锂电池有望促进人类文明的可持续发展。

关键词：锂离子电池锂硫电池锂空电池锂金属固态电池电池化学电解质