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Machine learning modeling identifies hypertrophic cardiomyopathy subtypes with genetic signature

《医学前沿(英文)》 2023年 第17卷 第4期   页码 768-780 doi: 10.1007/s11684-023-0982-1

摘要: Previous studies have revealed that patients with hypertrophic cardiomyopathy (HCM) exhibit differences in symptom severity and prognosis, indicating potential HCM subtypes among these patients. Here, 793 patients with HCM were recruited at an average follow-up of 32.78 ± 27.58 months to identify potential HCM subtypes by performing consensus clustering on the basis of their echocardiography features. Furthermore, we proposed a systematic method for illustrating the relationship between the phenotype and genotype of each HCM subtype by using machine learning modeling and interactome network detection techniques based on whole-exome sequencing data. Another independent cohort that consisted of 414 patients with HCM was recruited to replicate the findings. Consequently, two subtypes characterized by different clinical outcomes were identified in HCM. Patients with subtype 2 presented asymmetric septal hypertrophy associated with a stable course, while those with subtype 1 displayed left ventricular systolic dysfunction and aggressive progression. Machine learning modeling based on personal whole-exome data identified 46 genes with mutation burden that could accurately predict subtype propensities. Furthermore, the patients in another cohort predicted as subtype 1 by the 46-gene model presented increased left ventricular end-diastolic diameter and reduced left ventricular ejection fraction. By employing echocardiography and genetic screening for the 46 genes, HCM can be classified into two subtypes with distinct clinical outcomes.

关键词: machine learning methods     hypertrophic cardiomyopathy     genetic risk    

Clinical and genetic risk factors for venous thromboembolism in Chinese population

Chen WANG PhD, MD, Zhen-Guo ZHAI PhD, MD, Ying H. SHEN PhD, MD, Lan ZHAO PhD, MD,

《医学前沿(英文)》 2010年 第4卷 第1期   页码 29-35 doi: 10.1007/s11684-010-0012-y

摘要: Venous thromboembolism (VTE), including deep vein thrombosis and pulmonary embolism, carries significant mortality and morbidity. The most important and effective way to reduce VTE incidence is to identify the patients at risk and give necessary prevention. VTE is a multifactorial and complicated disorder. Major risk factors for VTE include surgery and trauma, acute medical illness, active cancer and pregnancy. Genetic factors increase susceptibility to the disease and are useful in predicting the development of VTE. Gene-gene and gene-environment interactions alter and magnify the clinical picture in this disorder. This brief review summarizes some selected clinical and genetic risk factors for VTE based on the current research in China.

关键词: risk factor     stroke     prothrombin     plasminogen activator inhibitor type-1     polymorphism     thrombophilia     biomarker    

Factors influencing peak bone mass gain

Xiaowei Zhu, Houfeng Zheng

《医学前沿(英文)》 2021年 第15卷 第1期   页码 53-69 doi: 10.1007/s11684-020-0748-y

摘要: Bone mass is a key determinant of osteoporosis and fragility fractures. Epidemiologic studies have shown that a 10% increase in peak bone mass (PBM) at the population level reduces the risk of fracture later in life by 50%. Low PBM is possibly due to the bone loss caused by various conditions or processes that occur during adolescence and young adulthood. Race, gender, and family history (genetics) are responsible for the majority of PBM, but other factors, such as physical activity, calcium and vitamin D intake, weight, smoking and alcohol consumption, socioeconomic status, age at menarche, and other secondary causes (diseases and medications), play important roles in PBM gain during childhood and adolescence. Hence, the optimization of lifestyle factors that affect PBM and bone strength is an important strategy to maximize PBM among adolescents and young people, and thus to reduce the low bone mass or osteoporosis risk in later life. This review aims to summarize the available evidence for the common but important factors that influence bone mass gain during growth and development and discuss the advances of developing high PBM.

关键词: peak bone mass     children     adolescents     genetic     risk factors    

基于GA-ANN的震灾风险预测模型研究

刘明广,郭章林

《中国工程科学》 2006年 第8卷 第3期   页码 83-86

摘要:

对震灾的各种主要风险因素进行系统的辨识和分析,并建立了震灾风险预测的遗传神经网络模型,用实例证明了该模型的可行性与有效性,为决策部门提供一种有效的震灾风险预测方法。

关键词: 地震灾害     风险因素     人工神经网络     遗传算法     预测    

U-shaped association between telomere length and esophageal squamous cell carcinoma risk: a case-control

null

《医学前沿(英文)》 2015年 第9卷 第4期   页码 478-486 doi: 10.1007/s11684-015-0420-0

摘要:

Telomeres play a critical role in biological ageing by maintaining chromosomal integrity and preventing chromosome ends fusion. Epidemiological studies have suggested that inter-individual differences of telomere length could affect predisposition to multiple cancers, but evidence regarding esophageal squamous cell carcinoma (ESCC) was still uncertain. Several telomere length-related single nucleotide polymorphisms (TL-SNPs) in Caucasians have been reported in genome-wide association studies. However, the effects of telomere length and TL-SNPs on ESCC development are unclear. Therefore, we conducted a case-control study (1045 ESCC cases and 1433 controls) to evaluate the associations between telomere length, TL-SNPs, and ESCC risk in Chinese population. As a result, ESCC cases showed overall shorter relative telomere length (RTL) (median: 1.34) than controls (median: 1.50, P<0.001). More interestingly, an evident nonlinear U-shaped association was observed between RTL and ESCC risk (P<0.001), with odds ratios (95% confidence interval) equal to 2.40 (1.84–3.14), 1.36 (1.03–1.79), 1.01 (0.76–1.35), and 1.37 (1.03–1.82) for individuals in the 1st (the shortest), 2nd, 3rd, and 5th (the longest) quintile, respectively, compared with those in the 4th quintile as reference group. No significant associations were observed between the eight reported TL-SNPs and ESCC susceptibility. These findings suggest that either short or extremely long telomeres may be risk factors for ESCC in the Chinese population.

关键词: esophageal squamous cell carcinoma     telomere length     genetic variants     susceptibility     genome-wide association study    

Interplay between diet and genetic susceptibility in obesity and related traits

Tiange Wang, Min Xu, Yufang Bi, Guang Ning

《医学前沿(英文)》 2018年 第12卷 第6期   页码 601-607 doi: 10.1007/s11684-018-0648-6

摘要:

The incidence of obesity has been rapidly increasing, and this condition has become a major public health threat. A substantial shift in environmental factors and lifestyle, such as unhealthy diet, is among the major driving forces of the global obesity pandemic. Longitudinal studies and randomized intervention trials have shown that genetic susceptibility to obesity may interact with dietary factors in relation to the body mass index and risk of obesity. This review summarized data from recent longitudinal studies and intervention studies on variations and diets and discussed the challenges and future prospects related to this area and public health implications.

关键词: diet     genetic susceptibility     obesity     interaction    

Optimal design of steel skeletal structures using the enhanced genetic algorithm methodology

Tugrul TALASLIOGLU

《结构与土木工程前沿(英文)》 2019年 第13卷 第4期   页码 863-889 doi: 10.1007/s11709-019-0523-9

摘要: This study concerns with the design optimization of steel skeletal structures thereby utilizing both a real-life specification provisions and ready steel profiles named hot-rolled I sections. For this purpose, the enhanced genetic algorithm methodology named EGAwMP is utilized as an optimization tool. The evolutionary search mechanism of EGAwMP is constituted on the basis of generational genetic algorithm (GGA). The exploration capacity of EGAwMP is improved in a way of dividing an entire population into sub-populations and using of a radial basis neural network for dynamically adjustment of EGAwMP’s genetic operator parameters. In order to improve the exploitation capability of EGAwMP, the proposed neural network implementation is also utilized for prediction of more accurate design variables associating with a new design strategy, design codes of which are based on the provisions of LRFD_AISC V3 specification. EGAwMP is applied to determine the real-life ready steel profiles for the optimal design of skeletal structures with 105, 200, 444, and 942 members. EGAwMP accomplishes to increase the quality degrees of optimum designations Furthermore, the importance of using the real-life steel profiles and design codes is also demonstrated. Consequently, EGAwMP is suggested as a design optimization tool for the real-life steel skeletal structures.

关键词: design optimization     genetic algorithm     multiple populations     neural network    

Research progress on genetic improvement of

Chuanping YANG

《农业科学与工程前沿(英文)》 2017年 第4卷 第4期   页码 391-401 doi: 10.15302/J-FASE-2017183

摘要: Suk. is one of the most widely distributed species of , the fourth most valuable timber species in north-eastern China and also a common tree species for landscaping. Over the past 30 years, effective progress has been made in genetic improvement and molecular breeding of . There has been extensive research on breeding techniques, including the collection and conservation of germplasm resources, provenance trials, intensive breeding techniques, crossbreeding and asexual propagation techniques, ploidy breeding and mutation breeding technology, genome sequencing, gene cloning, transgenic and molecular mechanisms of wood formation. A germplasm resource collection has been established by collecting different provenances, and full-sib and half-sib families. In addition, the geographic variation patterns of provenances have been revealed, and the provenance division and superior provenance selections made. flowering and seeding have been improved through intensive breeding techniques. Interspecific hybridization, intraspecific hybridization and parallel crosses were made using fine parents, and intensive seed orchards have been established. Systems of asexual propagation, including cuttings, grafting and tissue culture have been established. A tetraploid was successfully constructed and a triploid seed orchard established. The growth, wood property and resistance genes of have been cloned. An efficient transgenic system mediated by was established, and genes encoding insect resistance, drought resistance and salt tolerance, lignin synthesis, flowering, hormone transport and balance obtained. molecular markers were developed and the high density genetic map constructed. All this research has provided a model and data for the foundation of forest genetic improvement and applied research.

关键词: Betula platyphylla     genetic improvement     molecular breeding     seed orchard    

Genomics and genetic breeding in aquatic animals: progress and prospects

Wenteng XU, Songlin CHEN

《农业科学与工程前沿(英文)》 2017年 第4卷 第3期   页码 305-318 doi: 10.15302/J-FASE-2017154

摘要: Genomics focuses on dissection of genome structure and function to provide a molecular basis for understanding the genetic background. In a pivotal step, the expense of whole genome sequencing has been largely eliminated by the rapid updating of sequencing technology, leading to increasing numbers of decoded genomes of aquatic organisms, driving the aquaculture industry into the genomic era. Multiple aquatic areas have been influenced by these findings, such as accelerated generation shift in the seed industry and the process of breeding improved lines. In this article, we have summarized the latest domestic and international progress of aquatic animals in nine aspects, including WGS and fine mapping, construction of high density genetic/physical maps, trait-related marker/genes screening, as well as sex control, genome editing, and other molecular breeding technologies. Finally, the existing problems in this field have been discussed and five future counter measures have been proposed accordingly.

关键词: aquaculture     genomics     genetic breeding     progress    

Search-and-replace editing of genetic information

Yao LIU, Xingxu HUANG, Xiaolong WANG

《农业科学与工程前沿(英文)》 2020年 第7卷 第2期   页码 231-232 doi: 10.15302/J-FASE-2020322

Age-related trends in genetic parameters for wood properties in

Chao SUN, Meng LAI, Shougong ZHANG, Xiaomei SUN

《农业科学与工程前沿(英文)》 2017年 第4卷 第4期   页码 482-492 doi: 10.15302/J-FASE-2017184

摘要: Wood properties are important traits that determine quality of structural wood. With the aim of performing efficient early selection for wood properties, we investigated genetic variation in 20 clones aged from 4 to 15 years for four quality traits: wood density, wall thickness to lumen area, microfibrillar angle (MFA) and modulus of elasticity (MOE). We observed that age-related trends in overall means varied for different traits: MFA decreased with the age, while the others generally increased with the age. Phenotypic variance always showed significant differences from the age of 8 years onward, with CVG ranging from 4% to 25%. Also, clonal repeatability increased steadily until 9 years old and then kept medium or higher intensity (0.4–0.8). After the age of 6, genetic correlations were generally higher than phenotypic correlations. Estimates of early selection efficiency suggested that the optimal selection age for wood density was at age 5–6 years, while it was 9–10 years for the other traits. In combination with previous results, we proposed a comprehensive early selection strategy for larch clonal breeding that involved selection based on nursery rooting ability, phenology, growth traits, and wood properties.

关键词: early selection     genetic variation     wood properties     SilviScan     Larix kaempferi    

Understanding and addressing the environmental risk of microplastics

《环境科学与工程前沿(英文)》 2023年 第17卷 第1期 doi: 10.1007/s11783-023-1612-5

摘要:

Over the past decades, the plastic production has been dramatically increased. Indeed, a category of small plastic particles mainly with the shapes of fragments, fibers, or spheres, called microplastics (particles smaller than 5 mm) and nanoplastics (particles smaller than 1 μm) have attracted particular attention. Because of its wide distribution in the environment and potential adverse effects to animal and human, microplastic pollution has been reported as a serious environment problem receiving increased attention in recent years. As one of the commonly detected emerging contaminants in the environment, recent evidence indicates that the concentration of microplastics show an increasing trend, for the reason that up to 12.7 million metric tons of plastic litter is released into aquatic environment from land-based sources each year. Furthermore, microplastic exposure levels of model organisms in laboratory studies are usually several orders of magnitude higher than those found in environment, and the microplastics exposure conditions are also different with those observed in the environment. Additionally, the detection of microplastics in feces indicates that they can be excreted out of the bodies of animal and human. Hence, great uncertainties might exist in microplastics exposure and health risk assessment based on current studies, which might be exaggerated. Policies reduce microplastic emission sources and hence minimize their environmental risks are determined. To promote the above policies, we must first overcome the technical obstacles of detecting microplastics in various samples.

关键词: Emerging contaminants     Microplastics     Environment risk     Health effect    

Optimal design of steel portal frames based on genetic algorithms

CHEN Yue, HU Kai

《结构与土木工程前沿(英文)》 2008年 第2卷 第4期   页码 318-322 doi: 10.1007/s11709-008-0055-1

摘要: As for the optimal design of steel portal frames, due to both the complexity of cross selections of beams and columns and the discreteness of design variables, it is difficult to obtain satisfactory results by traditional optimization. Based on a set of constraints of the Technical Specification for Light-weighted Steel Portal Frames of China, a genetic algorithm (GA) optimization program for portal frames, written in MATLAB code, was proposed in this paper. The graph user interface (GUI) is also developed for this optimal program, so that it can be used much more conveniently. Finally, some examples illustrate the effectiveness and efficiency of the genetic-algorithm-based optimal program.

关键词: satisfactory     genetic-algorithm-based     Technical Specification     algorithm     efficiency    

Optimal design of double-layer barrel vaults using genetic and pattern search algorithms and optimized

《结构与土木工程前沿(英文)》 2023年 第17卷 第3期   页码 378-395 doi: 10.1007/s11709-022-0899-9

摘要: This paper presents a combined method based on optimized neural networks and optimization algorithms to solve structural optimization problems. The main idea is to utilize an optimized artificial neural network (OANN) as a surrogate model to reduce the number of computations for structural analysis. First, the OANN is trained appropriately. Subsequently, the main optimization problem is solved using the OANN and a population-based algorithm. The algorithms considered in this step are the arithmetic optimization algorithm (AOA) and genetic algorithm (GA). Finally, the abovementioned problem is solved using the optimal point obtained from the previous step and the pattern search (PS) algorithm. To evaluate the performance of the proposed method, two numerical examples are considered. In the first example, the performance of two algorithms, OANN + AOA + PS and OANN + GA + PS, is investigated. Using the GA reduces the elapsed time by approximately 50% compared with using the AOA. Results show that both the OANN + GA + PS and OANN + AOA + PS algorithms perform well in solving structural optimization problems and achieve the same optimal design. However, the OANN + GA + PS algorithm requires significantly fewer function evaluations to achieve the same accuracy as the OANN + AOA + PS algorithm.

关键词: optimization     surrogate models     artificial neural network     SAP2000     genetic algorithm    

Advances in genetic engineering of domestic animals

Shaohua WANG,Kun ZHANG,Yunping DAI

《农业科学与工程前沿(英文)》 2016年 第3卷 第1期   页码 1-10 doi: 10.15302/J-FASE-2016085

摘要: Global population will increase to over nine billion by 2050 with the doubling in demand for meat and milk. To overcome this challenge, it is necessary to breed highly efficient and productive livestock. Furthermore, livestock are also excellent models for human diseases and ideal bioreactors to produce pharmaceutical proteins. Thus, genetic engineering of domestic animals presents a critical and valuable tool to address these agricultural and biomedical applications. Overall, genetic engineering has evolved through three stages in history: transgenesis, gene targeting, and gene editing. Since the birth of the first transgenic pig, genetic engineering in livestock has been advancing slowly due to inherent technical limitations. A major breakthrough has been the advent of somatic cell nuclear transfer, which, for the first time, provided the technical ability to produce site-specific genome-modified domestic animals. However, the low efficiency of gene targeting events in somatic cells prohibits its wide use in agricultural and biomedical applications. Recently, rapid progress in tools and methods of genome engineering has been made, allowing genetic editing from mutation of a single base pair to the deletion of entire chromosomes. Here, we review the major advances of genetic engineering in domestic animals with emphasis placed on the introduction of latest designer nucleases.

关键词: CRISPR     TALEN     ZFN     gene editing     livestock     pig     cattle    

标题 作者 时间 类型 操作

Machine learning modeling identifies hypertrophic cardiomyopathy subtypes with genetic signature

期刊论文

Clinical and genetic risk factors for venous thromboembolism in Chinese population

Chen WANG PhD, MD, Zhen-Guo ZHAI PhD, MD, Ying H. SHEN PhD, MD, Lan ZHAO PhD, MD,

期刊论文

Factors influencing peak bone mass gain

Xiaowei Zhu, Houfeng Zheng

期刊论文

基于GA-ANN的震灾风险预测模型研究

刘明广,郭章林

期刊论文

U-shaped association between telomere length and esophageal squamous cell carcinoma risk: a case-control

null

期刊论文

Interplay between diet and genetic susceptibility in obesity and related traits

Tiange Wang, Min Xu, Yufang Bi, Guang Ning

期刊论文

Optimal design of steel skeletal structures using the enhanced genetic algorithm methodology

Tugrul TALASLIOGLU

期刊论文

Research progress on genetic improvement of

Chuanping YANG

期刊论文

Genomics and genetic breeding in aquatic animals: progress and prospects

Wenteng XU, Songlin CHEN

期刊论文

Search-and-replace editing of genetic information

Yao LIU, Xingxu HUANG, Xiaolong WANG

期刊论文

Age-related trends in genetic parameters for wood properties in

Chao SUN, Meng LAI, Shougong ZHANG, Xiaomei SUN

期刊论文

Understanding and addressing the environmental risk of microplastics

期刊论文

Optimal design of steel portal frames based on genetic algorithms

CHEN Yue, HU Kai

期刊论文

Optimal design of double-layer barrel vaults using genetic and pattern search algorithms and optimized

期刊论文

Advances in genetic engineering of domestic animals

Shaohua WANG,Kun ZHANG,Yunping DAI

期刊论文