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- Figlioli, G, et al.
(författare)
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The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
- 2019
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Ingår i: NPJ breast cancer. - : Springer Science and Business Media LLC. - 2374-4677. ; 5, s. 38-
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Tidskriftsartikel (refereegranskat)abstract
- Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM−/− patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors.
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- Seo, Jungryul, et al.
(författare)
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An Exploration of Machine Learning Methods for Robust Boredom Classification Using EEG and GSR Data
- 2019
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Ingår i: Sensors. - : MDPI. - 1424-8220. ; 19:20
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Tidskriftsartikel (refereegranskat)abstract
- In recent years, affective computing has been actively researched to provide a higher level of emotion-awareness. Numerous studies have been conducted to detect the user’s emotions from physiological data. Among a myriad of target emotions, boredom, in particular, has been suggested to cause not only medical issues but also challenges in various facets of daily life. However, to the best of our knowledge, no previous studies have used electroencephalography (EEG) and galvanic skin response (GSR) together for boredom classification, although these data have potential features for emotion classification. To investigate the combined effect of these features on boredom classification, we collected EEG and GSR data from 28 participants using off-the-shelf sensors. During data acquisition, we used a set of stimuli comprising a video clip designed to elicit boredom and two other video clips of entertaining content. The collected samples were labeled based on the participants’ questionnaire-based testimonies on experienced boredom levels. Using the collected data, we initially trained 30 models with 19 machine learning algorithms and selected the top three candidate classifiers. After tuning the hyperparameters, we validated the final models through 1000 iterations of 10-fold cross validation to increase the robustness of the test results. Our results indicated that a Multilayer Perceptron model performed the best with a mean accuracy of 79.98% (AUC: 0.781). It also revealed the correlation between boredom and the combined features of EEG and GSR. These results can be useful for building accurate affective computing systems and understanding the physiological properties of boredom.
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- Seo, Jungryul, et al.
(författare)
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Machine learning approaches for boredom classification using EEG
- 2019
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Ingår i: Journal of Ambient Intelligence and Humanized Computing. - : Springer. - 1868-5137 .- 1868-5145. ; 10:10, s. 3831-3846
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Tidskriftsartikel (refereegranskat)abstract
- Recently, commercial physiological sensors and computing devices have become cheaper and more accessible, while computer systems have become increasingly aware of their contexts, including but not limited to users’ emotions. Consequently, many studies on emotion recognition have been conducted. However, boredom has received relatively little attention as a target emotion due to its diverse nature. Moreover, only a few researchers have tried classifying boredom using electroencephalogram (EEG). In this study, to perform this classification, we first reviewed studies that tried classifying emotions using EEG. Further, we designed and executed an experiment, which used a video stimulus to evoke boredom and non-boredom, and collected EEG data from 28 Korean adult participants. After collecting the data, we extracted its absolute band power, normalized absolute band power, differential entropy, differential asymmetry, and rational asymmetry using EEG, and trained these on three machine learning algorithms: support vector machine, random forest, and k-nearest neighbors (k-NN). We validated the performance of each training model with 10-fold cross validation. As a result, we achieved the highest accuracy of 86.73% using k-NN. The findings of this study can be of interest to researchers working on emotion recognition, physiological signal processing, machine learning, and emotion-aware system development.
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