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Whole exome sequencing identifies mutations of multiple genes in a Chinese cohort of 95 sporadic probands with presumptive retinitis pigmentosa

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Journal of Bio-X Research 2018年第3期1卷 132-139页

作者： Lulin Huang Jialiang Yang Shiyao Xu yao Mao dean yao lee Jiyun Yang Chao Qu Yang Li Zhenglin Yang The Key Laboratory for Human Disease Gene Study Chengdu Institute of Biology Sichuan Translational Medicine Research Hospital Chinese Academy of SciencesChengduSichuan Province Department of Ophthalmology Sichuan Academy of Medical Science and Sichuan Provincial People’s HospitalSchool of MedicineUniversity of Electronic Science and Technology of China Beijing Institute of Ophthalmology Beijing Tongren Eye CenterBeijing Tongren HospitalCapital Medical UniversityBeijing Ophthalmology&Visual Sciences Key LaboratoryBeijingChina

Retinitis pigmentosa(RP),a major cause of inherited blindness worldwide,is highly *** study aimed to identify mutations in a Chinese cohort of sporadic probands with presumptive *** exome sequencing represents a considerable advancement in the identification of mutations associated with Mendelian diseases,such as *** this study,whole exome sequencing analysis was performed in a Chinese cohort of 95 sporadic probands who were initially diagnosed with RP,in order to identify disease *** detected variations were confirmed by direct Sanger sequencing,and potential pathogenicity was assessed by predictions of the mutations’*** overall mutation rate of presumptive RP genes for this cohort was 30.5%(n=29 of 95 probands).Forty-four mutations were identified in 19 RP genes,among which 40 mutations were *** probands carried mutations in autosomal dominant genes(38.0%),16 probands carried mutations in autosomal recessive genes(55.2%),and 2 probands carried mutations in X-linked genes(6.9%).Twenty-eight mutations in 18 genes linked to other retinal diseases in 23 probands were also ***,mutations were detected in 52 probands(54.7%).The recurrent and novel mutations reported here will expand potential understanding of the pathogenesis of RP and other retinal diseases.

关键词： gene mutation mutation proband retinitis pigmentosa whole exome sequencing

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Genome-wide analysis identified 17 new loci influencing intraocular pressure in Chinese population

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Science China(Life Sciences) 2019年第2期62卷 153-164页

作者： Lulin Huang Yuhong Chen Ying Lin Pancy O.S.Tam Yilian Cheng Yi Shi Bo Gong Fang Lu Jialiang Yang Haixin Wang Yi Yin Yong Cao Dan Jiang Ling Zhong Bai Xue Jing Wang Fang Hao dean-yao lee Chi-Pui Pang Xinghuai Sun Zhenglin Yang The Key Laboratory for Human Disease Gene Study of Sichuan Province Sichuan Provincial People's Hospital School of MedicineUniversity of Electronic Science and Technology of China Institute of Chengdu Biology Sichuan Translational Medicine Hospital Chinese Academy of Sciences Department of Ophthalmology Visual Science Eye and ENT Hospital Shanghai Medical School Fudan University Department of Ophthalmology and Visual Sciences The Chinese University of Hong Kong Department of Ophthalmology Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital

Intraocular pressure(IOP) is a major risk factor for glaucoma. Genetic determinants of intraocular pressure can provide critical insights into the genetic architecture of glaucoma and, as a result, open new avenues for therapeutic intervention. We performed a genome-wide association study and replication analysis of 8,552 Chinese participants. In the genome-wide association study, we identified 51 loci that surpassed the significance of P<9×10^(-7), and we formally replicated these loci. A combined discovery and replication meta-analysis identified 21 genome-wide loci that surpassed the genome-wide significance of P<5×10^(-8), including 4 previously reported loci: rs145063132(7 p21.2, ETV1/DGKB), rs548030386(7 q31.2, ST7 near CAV1/CAV2), rs7047871(9 p24.2, GLIS3), and rs2472494(9 q31.1, ABCA1/SLC44 A1). Of the 17 newly identified loci, five were reported to have ocular related phenotypes: PTCH2(rs7525308 in 1 p34.1), LRIF1/DRAM2(rs1282146 in 1 p13.3), COLEC11(rs201143466 in 2 p25.3),SPTBN1(rs4514918 in 2 p16.2), and CRK(rs11078446 in 17 p13.3). The genetic loci identified in this study not only increase our understanding of the genes involved in intraocular pressure but also provide important genetic markers to improve future genetic screening and drug discovery for intraocular pressure disorders.

关键词： intraocular pressure glaucoma genome-wide association study

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Real-time Bezier interpolation satisfying chord error constraint for CNC tool path

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Science China(Technological Sciences) 2016年第2期59卷 203-213页

作者： FAN Wei lee ChenHan CHEN JiHong XIAO yao National NC System Engineering Research Center Huazhong University of Science and Technology Institute of Mechanical Manufacturing Technology China Academy of Engineering Physics Aerospace Engineering Department Zhejiang University

G01 code generated by a computer-aided manufacture （CAM） system is the most common form of tool trajeclory in computer numerical control （CNC） machining. A tool path composed of short line segments has discontinuous tangenc t and curvature, generating large fluctuations of feedrate and acceleration, which in turn produces vibration in a machine tool. To obtain a smooth tool path, many methods on tool-path smoothing have been developed. However, the shortcomings i：1 these methods exist when they are employed in a CNC system. It is difficult to simultaneously to guarantee the following requirements of CNC machining：（1） chord error should be rigidly constrained; （2） G01 points should be interpolated; （3） cur,,ature should be continuous （G2）; （4） machining should be applicable to spatial cases; （5） real-time performance of computaEion is *** on these various requirements, this study proposes an interpolation scheme using CUDlC t^ezler curves anu mciuucb illl adjustment strategy to eliminate deficiencies in the tool path. The tool path generated is G2, chord-elror-constrained, G01-point-interpolated, loop-free, and optimized for both stretch and jerk energy. The method is applicable ：o 3D cases and involves only simple algebraic computations. Thus, the algorithm can be applied to real-time CNC machining. A simulation is conducted to validate the efficiency of the algorithm. In addition, an experiment reveals its advantage over Hermite interpola- tion in surface quality and machining efficiency.

关键词： real-time CNC machining stretch energy jerk energy loop-free chord error

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Mechanistic insight into gold nanorod transformation in nanoscale confinement of ZIF-8

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Nano Research 2021年第1期14卷 66-73页

作者： Cheongwon Bae Jaedeok lee Lehan yao Suhyeon Park Yeonju lee Jieun lee Qian Chen Juyeong Kim Department of Chemistry and Research Institute of Natural Sciences Gyeongsang National UniversityJinju 52828Republic of Korea Department of Materials Science and Engineering University of Illinois at Urbana-ChampaignUrbanaIL 61801USA Materials Research Laboratory University of Illinois at Urbana-ChampaignUrbanaIL 61801USA Beckman Institute for Advanced Science and Technology University of Illinois at Urbana-ChampaignUrbanaIL 61801USA Department of Chemistry University of Illinois at Urbana-ChampaignUrbanaIL 61801USA

Core-shell hybrid nanomaterials have shown new properties and functions that are not attainable by their single *** confinement effect by porous inorganic shells in the hybrid nanostructures plays an important role for chemical transformation of the core ***,metal-organic frameworks(MOFs)have been rarely applied for understanding mechanical insight into such nanoscale phenomena in confinement,although MOFs would provide a variety of properties for the confining environment than other inorganic shells such as silica and ***,we examine chemical transformation of a gold nanorod core enclosed by a zeolitic imidazolate framework(ZIF)through chemical etching and regrowth,followed by quantitative analysis in the core dimension and *** find the nanorod core shows template-effective behavior in its morphological *** the etching event,the nanorod core is spherically carved from its *** regrowth on the spherically etched core inside the ZIF gives rise toformation of a raspberry-like branched nanostructure in contrast to the growth of an octahedral shape in bulk *** attribute the shell-directed regrowth to void space generated at the interfaces between the etched core and the ZIF shell,intercrystalline gaps in mult-domain ZIF shells,and local structural deformation from the acidic reaction conditions.

关键词： nanoscale confinement core-shell structure gold nanorod metal-organic framework oxidative etching reductive regrowth

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Geochemistry and Origin of Layers in Single Manganese Nodule from the Philippine Sea and Manganese Nodules from Offshore Minami-Torishima, Western Pacific

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Acta Geologica Sinica(English Edition) 2014年第6期88卷 1835-1845页

作者： yao Yungchang CHEN Juchin HUH Chihan lee Yungtan Institute of Oceanography National Taiwan University Division of Preparatory Programs for Overseas Chinese Students National Taiwan Normal University Institute of Earth Sciences Academia Sinica Department of Tourism Aletheia University

Layers from one manganese nodule dredged from the Philippine Sea（16°56＇N, 129°48＇E; water depth, 5700 m） and 45 bulk nodules from offshore Minami-Torishima Island, Japan（23°3＇N, 153°22＇E; water depth, 1200 m） were analyzed chemically and their origin is discussed based on geochemical constraints. In general, Cu, Ni, Zn and Mo tend to increase with increasing Mn content, while Co, Pb, Ba, V, Sc, Th, and the rare earth elements（REEs） show less variation with increasing Mn content. Nodule 42 H from the Philippine Sea has an average Mn/Fe ratio close to 1 and shows a positive Ce anomaly, suggesting a predominant hydrogenous origin. Profiles of 230Th230 ex and Thex/232 Th ratios in the outer ~0.3 mm of nodule 42 H indicate a steady growth rate of ~1.7 mm/Myr. Nodule E30 from offshore Minami-Torishima is characterized by lower Mn, Fe, Mn/Fe（0.53） and Mo/V（0.2） ratios but higher P and Cu/Ni（0.31） ratio relative to other nodules from that area. The Ce content of E30 is unusually low（82 ppm） when compared with other nodules from the area and it is the only nodule analyzed with a negative Ce anomaly（-0.64）. Based on the geochemical data we suggest that most nodules from offshore Minami-Torishima are primarily of hydrogenous origin except E30, which is dominated by hydrothermal input, and E45, which has about a 35% hydrothermal contribution.

关键词： manganese nodule geochemistry origin the Philippine Sea Minami-Torishima

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What makes the Tc of monolayer FeSe on SrTiO3 so high： a sign-problem-free quantum Monte Carlo study

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Science Bulletin 2016年第12期61卷 925-930页

作者： Zi-Xiang Li Fa Wang Hong yao Dung-Hai lee Institute for Advanced Study Tsinghua UniversityBeijing 100084China International Center for Quantum Materials School of PhysicsPeking UniversityBeijing 100871China Collaborative Innovation Center of Quantum Matter Beijing 100871China Department of Physics University of CaliforniaBerkeleyCA 94720USA Materials Sciences Division Lawrence Berkeley National LaboratoryBerkeleyCA 94720USA

Monolayer FeSe films grown on SrTiO_3(STO)substrate show superconducting gap-opening temperatures(T_c) which are almost an order of magnitude higher than those of the bulk FeSe and are highest among all known Fe-based superconductors. Angle-resolved photoemission spectroscopy observed ‘‘replica bands' ' suggesting the importance of the interaction between FeSe electrons and STO phonons. These facts rejuvenated the quest for T_c enhancement mechanisms in iron-based, especially ironchalcogenide, superconductors. Here, we perform the first numerically-exact sign-problem-free quantum Monte Carlo simulations to iron-based superconductors. We(1) study the electronic pairing mechanism intrinsic to heavily electron doped FeSe films, and(2) examine the effects of electron–phonon interaction between FeSe and STO as well as nematic fluctuations on T_c. Armed with these results, we return to the question ‘‘what makes the Tcof monolayer FeSe on SrTiO_3 so high?'' in the conclusion and discussions.

关键词： High temperature superconductivity Pairing mechanism Iron-based superconductivity FeSe/STO Sign-problem-free quantum Monte-Carlosimulation

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Competition Growth of α and β Phases in Ti-50 at.%Al Peritectic Alloy during the Rapid Solidification by Laser Melting Technique

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Acta Metallurgica Sinica(English Letters) 2013年第5期26卷 523-532页

作者： Wenjing yao Xiuling NIU Long ZHOU Nan WANG Jehyun lee The Key Laboratory of Space Applied Physics and Chemistry Ministry of Education School of Science Northwestern Polytechnical University Engineering Research Center for Integrated Mechatronics Materials and Components Changwon National University92 Toechon-ro Uichang-gu Changwon-si

Rapid solidification of Ti-50 at.%Al peritectic alloy is realized by laser melting technique at diferent conditions of laser power and scanning speed. The temperature field and the cooling rate under the corresponding conditions are derived from the finite element simulation.℃omparing the measured pool size with the simulated result, the laser absorptivity of Ti-50 at.%Al peritectic alloy at diferent conditions can be deduced to establish the relationships between the laser absorptivity, the laser power and the scanning speed. The morphology evolution and the phase selection of Ti-50 at.%Al peritectic alloy are described by the temperature gradient and the cooling rate. With the increase of temperature gradient and cooling rate, β phase replaces α phase to become the leading growth phase. And the growth of α phase experiences the transition from facet to non-facet manner, while β phase is refined. To understand the underlying mechanism of the competition growth can bring benefit to the industrial application of Ti-Al alloy.

关键词： Rapid solidification Laser melting Competition growth Temperature field

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Intent defined optical network with artificial intelligence-based automated operation and maintenance

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Science China(Information Sciences) 2020年第6期63卷 55-66页

作者： Hui YANG Kaixuan ZHAN Qiuyan yao Xudong ZHAO Jie ZHANG Young lee State Key Laboratory of Information Photonics and Optical Communications Beijing University of Posts and Telecommunications Huawei Technologies Co. Ltd

Traditionally, the operation and maintenance of optical networks rely on the experience of engineers to configure network parameters, involving command-line interface, middle-ware scripting, and troubleshooting. However, with the emerging of newly B5 G applications, the traditional configuration cannot meet the requirement of real-time automatic configuration. Operators need a new configuration way without manual intervention at an underlying optical transport network. To cope with this issue, we propose an intent defined optical network(IDON) architecture toward artificial intelligence-based optical network automated operation and maintenance against service objective, by introducing a self-adapted generation and optimization(SAGO) policy in a customized manner. The IDON platform has three key innovations including intent-orient configuration translation, self-adapted generation and optimization policy, and close-loop intent guarantee operation. Focusing specifically on communication requirements, the IDON uses natural language processing to construct semantic graphs to understand, interact, and create the required network configuration. Then, deep reinforcement learning(DRL) is utilized to find the composition policy that satisfies the requirement of intent through the dynamic integration of fine-grained policies. Finally, the deep neural evolutionary network(DNEN) is introduced to achieve the intent guarantee at the milliseconds level. The feasibility and efficiency are verified on enhanced SDN testbed. Finally, we discuss several related challenges and opportunities for unveiling a promising upcoming future of intent defined optical network.

关键词： optical network artificial intelligence network automation intent defined network

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Exploiting AML algorithm for multiple acoustic source 2D and 3D DOA estimations

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控制理论与应用（英文版） 2011年第1期9卷 34-43页

作者： Juo-Yu lee Ralph E. HUDSON Kung yao Electrical Engineering Department University of CaliforniaLos AngelesCalifornia 90095-1594U.S.A.

The approximate maximum likelihood (AML) algorithm shows promises for joint estimations of acoustic source spectrum and direction-of-arrival (DOA). For the multisource case, the AML algorithm remains feasible as one considers an alternating projection procedure based on sequential iterative search on single source parameters. In order to perform multisource beamforming operations, earlier, we used a two-dimensional (2D) sensor array with 2D AML to obtain the DOA estimations for sources in the far field of the array. Now, the 3D AML algorithm enables a 3D sensor array to collect acoustic data for estimation of DOA represented in azimuth and elevation angles. In this paper, we consider two acoustic sources being simultaneously active and derive Crame′r-Rao bound (CRB) on DOA estimation given by a 3D array. Also, we compare the two-source DOA estimation results of 2D AML and 3D AML, respectively. To construct reasonable constraints on sensor topology, we adopt the concept of isotropic array and decouple the interplay between azimuth and elevation angle variations. The 3D AML algorithm exhibits superior spatial separation over its 2D counterpart for multiple sources located at different azimuth and elevation angles. Although the 3D AML algorithm requires more demanding computational complexity, we have developed a number of efficiency enhancements to reduce the loading for the grid search.

关键词： Approximate maximum likelihood Direction-of-arrival Alternating projection procedure

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Hurricane disturbances, tree diversity, and succession in North Carolina Piedmont forests, USA

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Journal of Forestry Research 2019年第1期30卷 219-231页

作者： Weimin Xi Robert K.Peet Michael T.lee dean L.Urban Department of Biology University of North Carolina at Chapel Hill Department of Biological and Health Sciences Texas A & M University-Kingsville The Nicholas School of the Environment Duke University

Windthrow plays a critical role in maintaining species diversity in temperate forests. Do large-scale strong wind events(i.e., tropical cyclones, including hurricanes,typhoons and severe cyclonic storms) increase tree diversity in severely damaged forest areas? Do hurricanes(tropical cyclones that occurs in the Atlantic Ocean and northeastern Pacific Ocean) lead to altered relative abundance of shade-tolerant and shade-intolerant species? Did historic hurricanes alter the succession trajectory of the damaged forests? We used nearly 70-year tree demographic data to assess the effects of two major hurricanes on woody species diversity in Piedmont forests, North Carolina, USA. Species richness(S) and Shannon–Wiener's diversity index(H') were used to evaluate the changes in tree diversity. The changes in composition were assessed with Nonmetric Multidimensional Scaling. The pre-hurricane successional phase can strongly influence both the damage severity and subsequent responses. Although there is often an immediate drop in diversity following a hurricane, understory tree diversity quickly increases to levels that exceed those prior to the disturbance. This leads to an increase in diversity in stands that were substantially damaged. Hurricanes significantly decrease the dominance of shade-intolerant canopy species while increasing preestablished, more shade-tolerant species. We conclude that large, and infrequent hurricanes help to maintain local tree diversity, but also accelerate the increase in dominance of understory species such as red maple and beech.

关键词： Wind disturbance Tree species diversity Plant succession Disturbance-diversity relationship Piedmont forests

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