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- Fallerini, Chiara, et al.
(författare)
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Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity
- 2022
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Ingår i: Human Genetics. - : Springer Nature. - 0340-6717 .- 1432-1203. ; 141:1, s. 147-173
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Tidskriftsartikel (refereegranskat)abstract
- The combined impact of common and rare exonic variants in COVID-19 host genetics is currently insufficiently understood. Here, common and rare variants from whole-exome sequencing data of about 4000 SARS-CoV-2-positive individuals were used to define an interpretable machine-learning model for predicting COVID-19 severity. First, variants were converted into separate sets of Boolean features, depending on the absence or the presence of variants in each gene. An ensemble of LASSO logistic regression models was used to identify the most informative Boolean features with respect to the genetic bases of severity. The Boolean features selected by these logistic models were combined into an Integrated PolyGenic Score that offers a synthetic and interpretable index for describing the contribution of host genetics in COVID-19 severity, as demonstrated through testing in several independent cohorts. Selected features belong to ultra-rare, rare, low-frequency, and common variants, including those in linkage disequilibrium with known GWAS loci. Noteworthily, around one quarter of the selected genes are sex-specific. Pathway analysis of the selected genes associated with COVID-19 severity reflected the multi-organ nature of the disease. The proposed model might provide useful information for developing diagnostics and therapeutics, while also being able to guide bedside disease management.
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- Kucner, Tomasz Piotr, et al.
(författare)
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Survey of maps of dynamics for mobile robots
- 2023
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Ingår i: The international journal of robotics research. - : Sage Publications. - 0278-3649 .- 1741-3176. ; 42:11, s. 977-1006
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Tidskriftsartikel (refereegranskat)abstract
- Robotic mapping provides spatial information for autonomous agents. Depending on the tasks they seek to enable, the maps created range from simple 2D representations of the environment geometry to complex, multilayered semantic maps. This survey article is about maps of dynamics (MoDs), which store semantic information about typical motion patterns in a given environment. Some MoDs use trajectories as input, and some can be built from short, disconnected observations of motion. Robots can use MoDs, for example, for global motion planning, improved localization, or human motion prediction. Accounting for the increasing importance of maps of dynamics, we present a comprehensive survey that organizes the knowledge accumulated in the field and identifies promising directions for future work. Specifically, we introduce field-specific vocabulary, summarize existing work according to a novel taxonomy, and describe possible applications and open research problems. We conclude that the field is mature enough, and we expect that maps of dynamics will be increasingly used to improve robot performance in real-world use cases. At the same time, the field is still in a phase of rapid development where novel contributions could significantly impact this research area.
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| 4. |
- Sartelli, Massimo, et al.
(författare)
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Ten golden rules for optimal antibiotic use in hospital settings: the WARNING call to action
- 2023
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Ingår i: WORLD JOURNAL OF EMERGENCY SURGERY. - 1749-7922. ; 18:1
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Forskningsöversikt (refereegranskat)abstract
- Antibiotics are recognized widely for their benefits when used appropriately. However, they are often used inappropriately despite the importance of responsible use within good clinical practice. Effective antibiotic treatment is an essential component of universal healthcare, and it is a global responsibility to ensure appropriate use. Currently, pharmaceutical companies have little incentive to develop new antibiotics due to scientific, regulatory, and financial barriers, further emphasizing the importance of appropriate antibiotic use. To address this issue, the Global Alliance for Infections in Surgery established an international multidisciplinary task force of 295 experts from 115 countries with different backgrounds. The task force developed a position statement called WARNING (Worldwide Antimicrobial Resistance National/International Network Group) aimed at raising awareness of antimicrobial resistance and improving antibiotic prescribing practices worldwide. The statement outlined is 10 axioms, or "golden rules," for the appropriate use of antibiotics that all healthcare workers should consistently adhere in clinical practice.
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| 5. |
- Wallner, Barbara, et al.
(författare)
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Y Chromosome Uncovers the Recent Oriental Origin of Modern Stallions
- 2017
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Ingår i: Current Biology. - : CELL PRESS. - 0960-9822 .- 1879-0445. ; 27:13, s. 2029-2035
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Tidskriftsartikel (refereegranskat)abstract
- The Y chromosome directly reflects male genealogies, but the extremely low Y chromosome sequence diversity in horses has prevented the reconstruction of stallion genealogies [1, 2]. Here, weresolve the first Y chromosomegenealogy of modern horses by screening 1.46 Mb of the male-specific region of the Y chromosome (MSY) in 52 horses from 21 breeds. Based on highly accurate pedigree data, we estimated the de novo mutation rate of the horse MSY and showed that various modern horse Y chromosome lineages split much later than the domestication of the species. Apart from few private northern European haplotypes, all modern horse breeds clustered together in a roughly 700-year-old haplogroup that was transmitted to Europe by the import of Oriental stallions. The Oriental horse group consisted of two major subclades: the Original Arabian lineage and the Turkoman horse lineage. We show that the English Thoroughbred MSY was derived from the Turkoman lineage and that English Thoroughbred sires are largely responsible for the predominance of this haplotype in modern horses.
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