| 1. |
- Cardoso-Moreira, Margarida, et al.
(författare)
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Gene expression across mammalian organ development
- 2019
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Ingår i: Nature. - : NATURE PUBLISHING GROUP. - 0028-0836 .- 1476-4687. ; 571:7766, s. 505-
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Tidskriftsartikel (refereegranskat)abstract
- The evolution of gene expression in mammalian organ development remains largely uncharacterized. Here we report the transcriptomes of seven organs (cerebrum, cerebellum, heart, kidney, liver, ovary and testis) across developmental time points from early organogenesis to adulthood for human, rhesus macaque, mouse, rat, rabbit, opossum and chicken. Comparisons of gene expression patterns identified correspondences of developmental stages across species, and differences in the timing of key events during the development of the gonads. We found that the breadth of gene expression and the extent of purifying selection gradually decrease during development, whereas the amount of positive selection and expression of new genes increase. We identified differences in the temporal trajectories of expression of individual genes across species, with brain tissues showing the smallest percentage of trajectory changes, and the liver and testis showing the largest. Our work provides a resource of developmental transcriptomes of seven organs across seven species, and comparative analyses that characterize the development and evolution of mammalian organs.
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| 2. |
- Carrieri, Daniele, et al.
(författare)
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Recontacting patients in clinical genetics services : recommendations of the European Society of Human Genetics
- 2019
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Ingår i: European Journal of Human Genetics. - : NATURE PUBLISHING GROUP. - 1018-4813 .- 1476-5438. ; 27:2, s. 169-182
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Tidskriftsartikel (refereegranskat)abstract
- Technological advances have increased the availability of genomic data in research and the clinic. If, over time, interpretation of the significance of the data changes, or new information becomes available, the question arises as to whether recontacting the patient and/or family is indicated. The Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), together with research groups from the UK and the Netherlands, developed recommendations on recontacting which, after public consultation, have been endorsed by ESHG Board. In clinical genetics, recontacting for updating patients with new, clinically significant information related to their diagnosis or previous genetic testing may be justifiable and, where possible, desirable. Consensus about the type of information that should trigger recontacting converges around its clinical and personal utility. The organization of recontacting procedures and policies in current health care systems is challenging. It should be sustainable, commensurate with previously obtained consent, and a shared responsibility between healthcare providers, laboratories, patients, and other stakeholders. Optimal use of the limited clinical resources currently available is needed. Allocation of dedicated resources for recontacting should be considered. Finally, there is a need for more evidence, including economic and utility of information for people, to inform which strategies provide the most cost-effective use of healthcare resources for recontacting.
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| 3. |
- Momeni, Niloofar, et al.
(författare)
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CAFS : Cost-Aware Features Selection Method for Multimodal Stress Monitoring on Wearable Devices
- 2022
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Ingår i: IEEE Transactions on Biomedical Engineering. - 0018-9294. ; 69:3, s. 1072-1084
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Today, stress monitoring on wearable devices is challenged by the tension between high-detection accuracy and battery lifetime driven by multimodal data acquisition and processing. Limited research has addressed the classification cost on multimodal wearable sensors, particularly when the features are cost-dependent. Thus, we design a Cost-Aware Feature Selection (CAFS) methodology that trades-off between prediction-power and energy-cost for multimodal stress monitoring. Methods: CAFS selects the most important features under different energy-constraints, which allows us to obtain energy-scalable stress monitoring models. We further propose a self-aware stress monitoring method that intelligently switches among the energy-scalable models, reducing energy consumption. Results: Using CAFS methodology on experimental data and simulation, we reduce the energy-cost of the stress model designed without energy constraints up to 94.37%. We obtain 90.98% and 95.74% as the best accuracy and confidence values, respectively, on unseen data, outperforming state-of-the-art studies. Analyzing our interpretable and energy-scalable models, we showed that simple models using only heart rate (HR) or skin conductance level (SCL), confidently predict acute stress for HR>93.30BPM and non-stress for SCL< 6.42 μS, but, outside these values, a multimodal model using respiration and pulse wave's features is needed for confident classification. Our self-aware acute stress monitoring proposal saves 10x energy and provides 88.72% of accuracy on unseen data. Conclusion: We propose a comprehensive solution for the cost-aware acute stress monitoring design addressing the problem of selecting an optimized feature subset considering their cost-dependency and cost-constraints. Significant: Our design framework enables long-term and confident acute stress monitoring on wearable devices.
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| 4. |
- Taborsky, Barbara, et al.
(författare)
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Towards an Evolutionary Theory of Stress Responses
- 2021
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Ingår i: Trends in Ecology & Evolution. - : Elsevier BV. - 0169-5347 .- 1872-8383. ; 36:1, s. 39-48
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Forskningsöversikt (refereegranskat)abstract
- All organisms have a stress response system to cope with environmental threats, yet its precise form varies hugely within and across individuals, populations, and species. While the physiological mechanisms are increasingly understood, how stress responses have evolved remains elusive. Here, we show that important insights can be gained from models that incorporate physiological mechanisms within an evolutionary optimality analysis (the 'evo-mecho' approach). Our approach reveals environmental predictability and physiological constraints as key factors shaping stress response evolution, generating testable predictions about variation across species and contexts. We call for an integrated research programme combining theory, experimental evolution, and comparative analysis to advance scientific understanding of how this core physiological system has evolved.
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