| 1. |
- Kehoe, Laura, et al.
(author)
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Make EU trade with Brazil sustainable
- 2019
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In: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 364:6438, s. 341-
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Journal article (other academic/artistic)
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| 2. |
- Fresard, Laure, et al.
(author)
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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
- 2019
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In: Nature Medicine. - : NATURE PUBLISHING GROUP. - 1078-8956 .- 1546-170X. ; 25:6, s. 911-919
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Journal article (peer-reviewed)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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| 3. |
- Cuni-Sanchez, Aida, et al.
(author)
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High aboveground carbon stock of African tropical montane forests
- 2021
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In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 596:7873, s. 536-542
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Journal article (peer-reviewed)abstract
- Tropical forests store 40–50per cent of terrestrial vegetation carbon. However, spatial variations in aboveground live tree biomass carbon (AGC) stocks remain poorly understood, in particular in tropical montane forests. Owing to climatic and soil changes with increasing elevation, AGC stocks are lower in tropical montane forests compared with lowland forests. Here we assemble and analyse a dataset of structurally intact old-growth forests (AfriMont) spanning 44 montane sites in 12 African countries. We find that montane sites in the AfriMont plot network have a mean AGC stock of 149.4megagrams of carbon per hectare (95% confidence interval 137.1–164.2), which is comparable to lowland forests in the African Tropical Rainforest Observation Network4 and about 70per cent and 32per cent higher than averages from plot networks in montane and lowland forests in the Neotropics, respectively. Notably, our results are two-thirds higher than the Intergovernmental Panel on Climate Change default values for these forests in Africa8. We find that the low stem density and high abundance of large trees of African lowland forests is mirrored in the montane forests sampled. This carbon store is endangered: we estimate that 0.8 million hectares of old-growth African montane forest have been lost since 2000. We provide country-specific montane forest AGC stock estimates modelled from our plot network to helpto guide forest conservation and reforestation interventions. Our findings highlight the need for conserving these biodiverse and carbon-rich ecosystems.
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| 4. |
- Hannon, Eilis, et al.
(author)
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DNA methylation meta-analysis reveals cellular alterations in psychosis and markers of treatment-resistant schizophrenia
- 2021
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In: eLIFE. - : eLife Sciences Publications. - 2050-084X. ; 10
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Journal article (peer-reviewed)abstract
- We performed a systematic analysis of blood DNA methylation profiles from 4483 participants from seven independent cohorts identifying differentially methylated positions (DMPs) associated with psychosis, schizophrenia, and treatment-resistant schizophrenia. Psychosis cases were characterized by significant differences in measures of blood cell proportions and elevated smoking exposure derived from the DNA methylation data, with the largest differences seen in treatment-resistant schizophrenia patients. We implemented a stringent pipeline to meta-analyze epigenome-wide association study (EWAS) results across datasets, identifying 95 DMPs associated with psychosis and 1048 DMPs associated with schizophrenia, with evidence of colocalization to regions nominated by genetic association studies of disease. Many schizophrenia-associated DNA methylation differences were only present in patients with treatment-resistant schizophrenia, potentially reflecting exposure to the atypical antipsychotic clozapine. Our results highlight how DNA methylation data can be leveraged to identify physiological (e.g., differential cell counts) and environmental (e.g., smoking) factors associated with psychosis and molecular biomarkers of treatment-resistant schizophrenia.
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| 5. |
- Yan, Caiqing, et al.
(author)
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Chemical characteristics and light-absorbing property of water-soluble organic carbon in Beijing : Biomass burning contributions
- 2015
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In: Atmospheric Environment. - : Elsevier BV. - 1352-2310 .- 1873-2844. ; 121, s. 4-12
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Journal article (peer-reviewed)abstract
- Emissions from biomass burning contribute significantly to water-soluble organic carbon (WSOC) and light-absorbing organic carbon (brown carbon). Ambient atmospheric samples were collected at an urban site in Beijing during winter and summer, along with source samples from residential crop straw burning. Carbonaceous aerosol species, including organic carbon (OC), elemental carbon (EC), WSOC and multiple saccharides as well as water-soluble potassium (K+) in PM2.5 (fine particulate matter with size less than 2.5 mu m) were measured. Chemical signatures of atmospheric aerosols in Beijing during winter and summer days with significant biomass burning influence were identified. Meanwhile, light absorption by WSOC was measured and quantitatively compared to EC at ground level. The results from this study indicated that levoglucosan exhibited consistently high concentrations (209 +/- 145 ng m(-3)) in winter. Ratios of levoglucosan/mannosan (L/M) and levoglucosan/galacosan (L/G) indicated that residential biofuel use is an important source of biomass burning aerosol in winter in Beijing. Light absorption coefficient per unit ambient WSOC mass calculated at 365 nm is approximately 1.54 +/- 0.16 m(2) g(-1) in winter and 0.73 +/- 0.15 m(2) g(-1) in summer. Biomass burning derived WSOC accounted for 23 +/- 7% and 16 +/- 7% of total WSOC mass, and contributed to 17 +/- 4% and 19 +/- 5% of total WSOC light absorption in winter and summer, respectively. It is noteworthy that, up to 30% of total WSOC light absorption was attributed to biomass burning in significant biomass-burning-impacted summer day. Near-surface light absorption (over the range 300-400 nm) by WSOC was about similar to 40% of that by EC in winter and similar to 25% in summer.
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| 6. |
- Yan, Caiqing, et al.
(author)
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Important fossil source contribution to brown carbon in Beijing during winter
- 2017
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In: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 7
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Journal article (peer-reviewed)abstract
- Organic aerosol (OA) constitutes a substantial fraction of fine particles and affects both human health and climate. It is becoming clear that OA absorbs light substantially (hence termed Brown Carbon, BrC), adding uncertainties to global aerosol radiative forcing estimations. The few current radiative-transfer and chemical-transport models that include BrC primarily consider sources from biogenic and biomass combustion. However, radiocarbon fingerprinting here clearly indicates that light-absorbing organic carbon in winter Beijing, the capital of China, is mainly due to fossil sources, which contribute the largest part to organic carbon (OC, 67 +/- 3%) and its sub-constituents (water-soluble OC, WSOC: 54 +/- 4%, and water-insoluble OC, WIOC: 73 +/- 3%). The dual-isotope (Delta C-14/delta C-13) signatures, organic molecular tracers and Beijing-tailored emission inventory identify that this fossil source is primarily from coal combustion activities in winter, especially from the residential sector. Source testing on Chinese residential coal combustion provides direct evidence that intensive coal combustion could contribute to increased light-absorptivity of ambient BrC in Beijing winter. Coal combustion is an important source to BrC in regions such as northern China, especially during the winter season. Future modeling of OA radiative forcing should consider the importance of both biomass and fossil sources.
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| 7. |
- Yan, Caiqing, et al.
(author)
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Residential Coal Combustion as a Source of Levoglucosan in China
- 2018
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In: Environmental Science and Technology. - : American Chemical Society (ACS). - 0013-936X .- 1520-5851. ; 52:3, s. 1665-1674
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Journal article (peer-reviewed)abstract
- Levoglucosan (LG) has been widely identified as a specific marker for biomass burning (BB) sources and frequently utilized in estimating the BB contribution to atmospheric fine particles all over the world. However, this study provides direct evidence to show that coal combustion (CC) is also a source of LG, especially in the wintertime in Northern China, based on both source testing and ambient measurement. Our results show that low-temperature residential CC could emit LG with emission factors (EF) ranging from 0.3 to 15.9 mg kg(-1). Ratios of LG to its isomers, mannosan and galactosan, differ between CC and BB emissions, and the wintertime ratios in Beijing ambient PM2.5 and source-specific tracers including carbon isotopic signatures all indicated a significant contribution from CC to ambient levoglucosan in winter in Beijing. The results suggest that LG cannot be used as a distinct source marker for biomass burning in special cases such as some cities in the northern China, where coal is still widely used in the residential and industrial sectors. Biomass burning sources could be overestimated, although such an over estimation could vary spatially and temporally.
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