| 261. |
- Lai, Zou, et al.
(författare)
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BearingFM: Towards a foundation model for bearing fault diagnosis by domain knowledge and contrastive learning
- 2024
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Ingår i: International Journal of Production Economics. - : Elsevier BV. - 0925-5273 .- 1873-7579. ; 275
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Tidskriftsartikel (refereegranskat)abstract
- Monitoring bearing failures in production equipment can effectively prevent finished product quality issues and unplanned factory downtime, thereby reducing supply chain uncertainties and risk. Therefore, monitoring bearing failures in production equipment is important for improving supply chain sustainability. Due to the generalization limitations of neural network models, specific models must be trained for specific tasks. However, in real industrial scenarios, there is a severe lack of labeled samples, making it difficult to deploy fault diagnosis models across massive amounts of equipment in workshops. In order to solve the above issue, this paper proposes a cloud-edge-end collaborative semi-supervised learning framework, which provides multi-level computing power and data support for building a foundation model. A data augmentation method based on the bearing fault mechanism is proposed, which effectively preserves the inherent essential characteristics in vibration signals by normalizing frequency and adding noise in specific frequency bands. A novel contrastive learning model is designed, which narrows the distances between positive samples and widens the distances between negative samples in the high-dimensional space through cross comparisons in the time dimension and knowledge dimension, thereby extracting the most essential characteristics from the unlabeled signals. Multiple sets of experiments conducted on four datasets demonstrate that the proposed approach achieves an approximately 98% fault classification accuracy with only 1.2% labeled samples.
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| 262. |
- Lango Allen, Hana, et al.
(författare)
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Hundreds of variants clustered in genomic loci and biological pathways affect human height.
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 467:7317, s. 832-8
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Tidskriftsartikel (refereegranskat)abstract
- Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P<0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.
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| 263. |
- Li, Ting, et al.
(författare)
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Total genetic contribution assessment across the human genome
- 2021
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Ingår i: Nature Communications. - : Springer Nature. - 2041-1723. ; 12
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Tidskriftsartikel (refereegranskat)abstract
- Quantifying the overall magnitude of every single locus' genetic effect on the widely measured human phenome is of great challenge. We introduce a unified modelling technique that can consistently provide a total genetic contribution assessment (TGCA) of a gene or genetic variant without thresholding genetic association signals. Genome-wide TGCA in five UK Biobank phenotype domains highlights loci such as the HLA locus for medical conditions, the bone mineral density locus WNT16 for physical measures, and the skin tanning locus MC1R and smoking behaviour locus CHRNA3 for lifestyle. Tissue-specificity investigation reveals several tissues associated with total genetic contributions, including the brain tissues for mental health. Such associations are driven by tissue-specific gene expressions, which share genetic basis with the total genetic contributions. TGCA can provide a genome-wide atlas for the overall genetic contributions in each particular domain of human complex traits. Quantifying the effects of individual loci on the human phenome is a challenging task. Here, the authors introduce a modelling technique, TGCA, that assesses total genetic contribution per locus and apply this to UK Biobank phenotype domains, revealing top loci and links to tissue-specific gene expression.
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| 264. |
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| 265. |
- Li, Yafang, et al.
(författare)
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Genome-wide interaction analysis identified low-frequency variants with sex disparity in lung cancer risk
- 2022
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Ingår i: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 31:16, s. 2831-2843
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Tidskriftsartikel (refereegranskat)abstract
- Differences by sex in lung cancer incidence and mortality have been reported which cannot be fully explained by sex differences in smoking behavior, implying existence of genetic and molecular basis for sex disparity in lung cancer development. However, the information about sex dimorphism in lung cancer risk is quite limited despite the great success in lung cancer association studies. By adopting a stringent two-stage analysis strategy, we performed a genome-wide gene-sex interaction analysis using genotypes from a lung cancer cohort including ~ 47 000 individuals with European ancestry. Three low-frequency variants (minor allele frequency < 0.05), rs17662871 [odds ratio (OR) = 0.71, P = 4.29×10-8); rs79942605 (OR = 2.17, P = 2.81×10-8) and rs208908 (OR = 0.70, P = 4.54×10-8) were identified with different risk effect of lung cancer between men and women. Further expression quantitative trait loci and functional annotation analysis suggested rs208908 affects lung cancer risk through differential regulation of Coxsackie virus and adenovirus receptor gene expression in lung tissues between men and women. Our study is one of the first studies to provide novel insights about the genetic and molecular basis for sex disparity in lung cancer development.
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| 266. |
- Li, Yafang, et al.
(författare)
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Lung cancer in ever- and never-smokers : findings from multi-population GWAS studies
- 2024
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Ingår i: Cancer Epidemiology, Biomarkers and Prevention. - : American Association For Cancer Research (AACR). - 1055-9965 .- 1538-7755. ; 33:3, s. 389-399
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Clinical, molecular, and genetic epidemiology studies displayed remarkable differences between ever- and never-smoking lung cancer.METHODS: We conducted a stratified multi-population (European, East Asian, and African descent) association study on 44,823 ever-smokers and 20,074 never-smokers to identify novel variants that were missed in the non-stratified analysis. Functional analysis including expression quantitative trait loci (eQTL) colocalization and DNA damage assays, and annotation studies were conducted to evaluate the functional roles of the variants. We further evaluated the impact of smoking quantity on lung cancer risk for the variants associated with ever-smoking lung cancer.RESULTS: Five novel independent loci, GABRA4, intergenic region 12q24.33, LRRC4C, LINC01088, and LCNL1 were identified with the association at two or three populations (P < 5 × 10-8). Further functional analysis provided multiple lines of evidence suggesting the variants affect lung cancer risk through excessive DNA damage (GABRA4) or cis-regulation of gene expression (LCNL1). The risk of variants from 12 independent regions, including the well-known CHRNA5, associated with ever-smoking lung cancer was evaluated for never-smokers, light-smokers (packyear ≤ 20), and moderate-to-heavy-smokers (packyear > 20). Different risk patterns were observed for the variants among the different groups by smoking behavior.CONCLUSIONS: We identified novel variants associated with lung cancer in only ever- or never-smoking groups that were missed by prior main-effect association studies. IMPACT: Our study highlights the genetic heterogeneity between ever- and never-smoking lung cancer and provides etiologic insights into the complicated genetic architecture of this deadly cancer.
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| 267. |
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| 268. |
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| 269. |
- Liu, Jiandong, et al.
(författare)
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Changes in the relationship between solar radiation and sunshine duration in large cities of China
- 2015
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Ingår i: Energy. - : Elsevier BV. - 0360-5442. ; 82, s. 589-600
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Tidskriftsartikel (refereegranskat)abstract
- Based on the linear relationship between solar radiation and sunshine duration, the Angstrom model is widely used to estimate solar radiation from routinely observed meteorological variables for energy exploitation. However, the relationship may have changed in quickly developing regions in the recent decades under global "dimming" and "brightening" context, with increasing aerosols due to industrial pollutions. Solar radiation stations under different climate conditions in six large cities in China are selected to test this hypothesis. Analysis of the related meteorological items shows that Guiyang has the lowest solar radiation with the average annual value of 10.5 MJm(-2)d(-1), while Lhasa on the Tibetan Plateau has the highest of 20.1 MJm(-2)d(-1). Both radiation and sunshine hours decreased from 1961 to 2010, but at different rates. A moving linear regression method is used to investigate the changes in the relationship between radiation and sunshine duration, the results indicate an abrupt change in the correlation coefficients in 1980-1990s, which can be attributed to the aerosol load resulting from air pollution caused by the industrial development in 1980s under China's Open Door Policy. The sky condition has been changing from clean to dirty, thus the relationship between solar radiation and duration changes in the 1980's and has recovered in the recent decades. This finding implies that it might not necessarily be right to use long data sets for model calibration. Further investigation confirms that the Angstrom model performs the best with higher NSE (nash-sutcliffe efficiency) of 0.914 and lower MAPE (mean absolute percentage error) and RMSE (root mean square error) values of 13.7 w/m(2) and 23.9 w/m(2) respectively, when calibrated with a 10-year data set. In contrast, the model performs worst when it is calibrated with a 40-year data set, with NSE, MAPE and RMSE values of 0.891, 15.1 w/m(2) and 25.3 w/m(2), respectively. Based on the findings of this research, a 10-year data set is recommended as the national standard for model calibration in rapidly developing regions of China. Further analogous investigations are needed in other industrial regions to make an international standard for Angstrom model calibration. (C) 2015 Elsevier Ltd. All rights reserved.
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| 270. |
- Luo, Shijian, et al.
(författare)
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RoamFab : A Design Tool for Reconfiguring Parameterized Mechanisms to 3D Models With Structural Optimization
- 2023
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Ingår i: International Journal of Human-Computer Interaction. - : Informa UK Limited. - 1044-7318 .- 1532-7590. ; 39:19, s. 3702-3716
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Tidskriftsartikel (refereegranskat)abstract
- Creating personalized 3D printing objects has become increasingly popular with the advance in end-user modeling tools and fabrication techniques. However, it remains challenging for novice makers to design and fabricate functional objects with mechanical motion such as linear or rotational. To empower users to add mechanical movements to their models for particular needs, we first investigate the commonly used 3D printable mechanisms and parameterize four mechanical primitives. We then provide a computational approach to reconfigure the mechanical primitives to user-provided 3D models, with an underlying structural optimization procedure according to a specified bending force. We further showcase a set of design examples and conduct a user study to demonstrate the potential of our approach in creating personalized functional artifacts.
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