| 1. |
- Fresard, Laure, et al.
(författare)
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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
- 2019
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Ingår i: Nature Medicine. - : NATURE PUBLISHING GROUP. - 1078-8956 .- 1546-170X. ; 25:6, s. 911-919
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Tidskriftsartikel (refereegranskat)abstract
- It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene(1). The current molecular diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the most successful approaches(2-5). For patients in whom WES is uninformative, RNA sequencing (RNA-seq) has shown diagnostic utility in specific tissues and diseases(6-8). This includes muscle biopsies from patients with undiagnosed rare muscle disorders(6,9), and cultured fibroblasts from patients with mitochondrial disorders(7). However, for many individuals, biopsies are not performed for clinical care, and tissues are difficult to access. We sought to assess the utility of RNA-seq from blood as a diagnostic tool for rare diseases of different pathophysiologies. We generated whole-blood RNA-seq from 94 individuals with undiagnosed rare diseases spanning 16 diverse disease categories. We developed a robust approach to compare data from these individuals with large sets of RNA-seq data for controls (n = 1,594 unrelated controls and n = 49 family members) and demonstrated the impacts of expression, splicing, gene and variant filtering strategies on disease gene identification. Across our cohort, we observed that RNA-seq yields a 7.5% diagnostic rate, and an additional 16.7% with improved candidate gene resolution.
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| 2. |
- Kattge, Jens, et al.
(författare)
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TRY plant trait database - enhanced coverage and open access
- 2020
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Ingår i: Global Change Biology. - : Wiley-Blackwell. - 1354-1013 .- 1365-2486. ; 26:1, s. 119-188
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Tidskriftsartikel (refereegranskat)abstract
- Plant traits-the morphological, anatomical, physiological, biochemical and phenological characteristics of plants-determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait-based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits-almost complete coverage for 'plant growth form'. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait-environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives.
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| 3. |
- Liccardo, Letizia, et al.
(författare)
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Surface Defect Engineered Nano-Cu/TiO2 Photocatalysts for Hydrogen Production
- 2024
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Ingår i: Advanced Sustainable Systems. - : John Wiley & Sons. - 2366-7486. ; 8:3
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Tidskriftsartikel (refereegranskat)abstract
- Surface defects engineered nano-Cu/TiO2 photocatalysts are synthesized through an easy and cost-effective microwave-assisted hydrothermal synthesis, mixing commercial P25 titania (TiO2) and oxalic acid (Ox), followed by 2.0 wt% Cu co-catalyst (labeled as Cu2.0) loading through in situ photodeposition during reaction. The hydrothermal treatment does not affect the catalyst crystalline structure, morphology, nor the surface area. However, depending on the Ox/TiO2 molar ratio used an influence on the optical properties and on the reactivity of the system is detected. The presence of surface defects leads to intraband states formation between valence band and conduction band of bare titania, inducing an important enhancement in the photoactivity. Thus, Cu2.0/gOx/P25 200 (where g is the weight of Ox and 200 the temperature in Celsius degrees used during the synthesis) have been successfully tested as efficient photocatalysts for hydrogen production through methanol (MeOH) reforming under UV light in a MeOH/ H2O solution (10% v/v) by fluxing the system with N2, showing an increased reactivity compared to the bare Cu2.0/P25 system.
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| 4. |
- Liccardo, Letizia, et al.
(författare)
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Surface Defect Engineering in Colored TiO2 Hollow Spheres Toward Efficient Photocatalysis
- 2023
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Ingår i: Advanced Functional Materials. - : John Wiley & Sons. - 1616-301X .- 1616-3028. ; 33:22
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Tidskriftsartikel (refereegranskat)abstract
- Nanostructured TiO2 is one of the best materials for photocatalysis, thanks to its high surface area and surface reactivity, but its large energy bandgap (3.2 eV) hinders the use of the entire solar spectrum. Here, it is proposed that defect-engineered nanostructured TiO2 photocatalysts are obtained by hydrogenation strategy to extend its light absorption up to the near-infrared region. It is demonstrated that hydrogenated or colored TiO2 hollow spheres (THS) composed of hierarchically assembled nanoparticles result in much broader exploitation of the solar spectrum (up to 1200 nm) and the engineered surface enhances the photogeneration of charges for photocatalytic processes. In turn, when applied for photodegradation of a targeted drug (Ciprofloxacin) this results in 82% degradation after 6 h under simulated sunlight. Valence band analysis by photoelectron spectroscopy revealed the presence of oxygen vacancies, whose surface density increases with the hydrogenation rate. Thus, a tight correlation between degree of hydrogenation and photocatalytic activity is directly established. Further insight comes from electron paramagnetic resonance, which evidences bulk Ti3+ centers only in hydrogenated THS. The results are anticipated to disclose a new path toward highly efficient photocatalytic titania in a series of applications targeting water remediation and solar fuel production.
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