1. |
|
|
2. |
- Kanoni, Stavroula, et al.
(författare)
-
Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.
- 2022
-
Ingår i: Genome biology. - : Springer Science and Business Media LLC. - 1474-760X .- 1465-6906 .- 1474-7596. ; 23:1
-
Tidskriftsartikel (refereegranskat)abstract
- Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery.To expand our understanding of the underlying biological pathways and mechanisms controlling blood lipid levels, we leverage a large multi-ancestry meta-analysis (N=1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches. Using phenome-wide association (PheWAS) scans, we identify relationships of genetically predicted lipid levels to other diseases and conditions. We confirm known pleiotropic associations with cardiovascular phenotypes and determine novel associations, notably with cholelithiasis risk. We perform sex-stratified GWAS meta-analysis of lipid levels and show that 3-5% of autosomal lipid-associated loci demonstrate sex-biased effects. Finally, we report 21 novel lipid loci identified on the X chromosome. Many of the sex-biased autosomal and X chromosome lipid loci show pleiotropic associations with sex hormones, emphasizing the role of hormone regulation in lipid metabolism.Taken together, our findings provide insights into the biological mechanisms through which associated variants lead to altered lipid levels and potentially cardiovascular disease risk.
|
|
3. |
- Olson, Nathan D., et al.
(författare)
-
precisionFDA Truth Challenge V2: Calling variants from short- and long-reads in difficult-to-map regions
- 2020
-
Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- The precisionFDA Truth Challenge V2 aimed to assess the state-of-the-art of variant calling in difficult-to-map regions and the Major Histocompatibility Complex (MHC). Starting with FASTQ files, 20 challenge participants applied their variant calling pipelines and submitted 64 variant callsets for one or more sequencing technologies (~35X Illumina, ~35X PacBio HiFi, and ~50X Oxford Nanopore Technologies). Submissions were evaluated following best practices for benchmarking small variants with the new GIAB benchmark sets and genome stratifications. Challenge submissions included a number of innovative methods for all three technologies, with graph-based and machine-learning methods scoring best for short-read and long-read datasets, respectively. New methods out-performed the 2016 Truth Challenge winners, and new machine-learning approaches combining multiple sequencing technologies performed particularly well. Recent developments in sequencing and variant calling have enabled benchmarking variants in challenging genomic regions, paving the way for the identification of previously unknown clinically relevant variants.
|
|
4. |
- Olson, Nathan D., et al.
(författare)
-
PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions
- 2022
-
Ingår i: Cell Genomics. - : Elsevier BV. - 2666-979X. ; 2:5, s. 1-12
-
Tidskriftsartikel (refereegranskat)abstract
- The precisionFDA Truth Challenge V2 aimed to assess the state of the art of variant calling in challenging genomic regions. Starting with FASTQs, 20 challenge participants applied their variant-calling pipelines and submitted 64 variant call sets for one or more sequencing technologies (Illumina, PacBio HiFi, and Oxford Nanopore Technologies). Submissions were evaluated following best practices for benchmarking small variants with updated Genome in a Bottle benchmark sets and genome stratifications. Challenge submissions included numerous innovative methods, with graph-based and machine learning methods scoring best for short-read and long-read datasets, respectively. With machine learning approaches, combining multiple sequencing technologies performed particularly well. Recent developments in sequencing and variant calling have enabled benchmarking variants in challenging genomic regions, paving the way for the identification of previously unknown clinically relevant variants.
|
|
5. |
- Li, Gen, et al.
(författare)
-
Optimal Open-Loop MIMO Precoder Design
- 2020
-
Ingår i: IEEE Communications Letters. - : IEEE. - 1089-7798 .- 1558-2558. ; 24:9, s. 2075-2079
-
Tidskriftsartikel (refereegranskat)abstract
- Multiple-input multiple-output (MIMO) is a favorable technique that can improve system capacity and performance through spatial multiplexing. However, the performance gets degraded over the correlated wireless channels. In this letter, we consider a point-to-point MIMO system and jointly optimize both the precoding matrix and the difference between two transmit vectors to resist transmit correlation. The simulation results demonstrate that the proposed method can get average 75% gain comparing with the existing method in terms of the minimum pairwise error probability.
|
|
6. |
- Yan-Fang, Li, et al.
(författare)
-
Efficiency Enhancement of MEH-PPV : PCBM Solar Cells by Addition of Ditertutyl Peroxide as an Additive
- 2013
-
Ingår i: Chinese Physics Letters. - : Institute of Physics Publishing (IOPP). - 0256-307X .- 1741-3540. ; 30:1
-
Tidskriftsartikel (refereegranskat)abstract
- Improved power conversion efficiency (PCE) and stability of organic bulk heterojunction (BHJ) solar cells based on poly (2-methoxy-5-(2-ethylhexyloxy)-1,4-phenylenevinylene) (MEH-PPV) and methanofullerene [6,6]-phenyl C-61-butyric acid methyl ester (PCBM) blends are obtained by using ditert butyl peroxide (DTBP) as an additive. The effect of the DTBP contents on the performance of photovoltaic cells is investigated. The results reveal that efficiency enhancement of MEH-PPV: PCBM solar cells can be realized by carefully tuning the contents of DTBP. Compared to the control device, the optimized device with 0.5wt% DTBP additive exhibits enhanced performance with J(sc) of (3.51 +/- 0.21) mA/cm(2), FF of (44.45 +/- 0.71)%, and PCE of (1.31 +/- 0.08)%, increased by 9.3%, 8.0% and 22.4%, respectively. The stability of the device is found to be improved by adding 0.5wt% of DTBP.
|
|
7. |
- Claesson, Per M., et al.
(författare)
-
From force curves to surface nanomechanical properties
- 2017
-
Ingår i: Physical Chemistry, Chemical Physics - PCCP. - : Royal Society of Chemistry. - 1463-9076 .- 1463-9084. ; 19:35, s. 23642-23657
-
Tidskriftsartikel (refereegranskat)abstract
- Surface science, which spans the fields of chemistry, physics, biology and materials science, requires information to be obtained on the local properties and property variations across a surface. This has resulted in the development of different scanning probe methods that allow the measurement of local chemical composition and local electrical and mechanical properties. These techniques have led to rapid advancement in fundamental science with applications in areas such as composite materials, corrosion protection and wear resistance. In this perspective article, we focussed on the branch of scanning probe methods that allows the determination of surface nanomechanical properties. We discussed some different AFM-based modes that were used for these measurements and provided illustrative examples of the type of information that could be obtained. We also discussed some of the difficulties encountered during such studies.
|
|
8. |
- Claesson, Per M., et al.
(författare)
-
Surface Nanomechanics of Coatings and Hydrogels
- 2019
-
Ingår i: IOP Conference Series. - : Institute of Physics Publishing.
-
Konferensbidrag (refereegranskat)abstract
- Due to the increasing use of nanostructured materials and thin coatings as barrier materials, it has become of high importance to measure and understand material properties on the nm to 100 nm length scales. In this article we demonstrate and discuss how atomic force microscopy techniques can be used to this end. It is demonstrated that the classical analysis based on the assumption of a purely elastic material response is a fair approximation for relatively stiff coatings (elastic modulus order of GPa), whereas viscous responses must be considered for soft materials (apparent modulus order of MPa) such as hydrogels.
|
|
9. |
|
|
10. |
- Han, Zixuan, et al.
(författare)
-
Changes in Sahel summer rainfall in a global warming climate : contrasting the mid-Pliocene and future regional hydrological cycles
- 2023
-
Ingår i: Climate Dynamics. - : Springer Science and Business Media LLC. - 0930-7575 .- 1432-0894. ; 61:3-4, s. 1353-1370
-
Tidskriftsartikel (refereegranskat)abstract
- The evolution of Sahel summer rainfall in the context of global warming is a severe socio-economic concern because of its widespread influences on local agriculture, water resource management, food security, infrastructure planning, and ecosystems. Based on the mid-Pliocene simulations from the Pliocene Model Intercomparison Project Phase 2 and the historical simulations and shared socio-economic pathway 5–8.5 experiments from the Coupled Model Intercomparison Project phase 6, the present study contrasts the Sahel summer rainfall changes between the past mid-Pliocene and near future global warming climates. The results show that the Western African summer monsoon (WASM) circulation, closely linked with the Sahel summer rainfall change, tends to strengthen in both the past and future global warming climates, but the monsoonal circulation strengthening is much more intense in the past warm period than in the projected warm future. This causes that the multi-model ensemble (MME) mean increase ratio of Sahel summer rainfall in the past warming climate is about twice to three times larger than that in the future warming climate for the same increase of global mean surface temperature (the regional rainfall increase ratio in the MME mean: about 19.6% per one degree Celsius of global warming in the mid-Pliocene simulations versus about 7.7% per one degree Celsius of global warming in the SSP5-8.5 future projections). Such a striking discrepancy in the regional circulation and hydrological cycle changes is mainly attributed to a dramatically stronger warming over the Canadian Archipelago and Greenland during the mid-Pliocene warm period relative to the projected near future. The more significant northern high-latitude warming during the mid-Pliocene enhances the meridional temperature gradient between the extratropical and tropical regions, which could induce an excessive northward shift of the Intertropical Convergence Zone and a stronger WASM, and thus result in a more intense hydrological cycle around the Sahel region. Our results highlight that besides the global mean temperature increase, meridional warming patterns are also essential for the changes of WASM and regional hydrological cycle in a warmer world. Implications for projecting the regional monsoon and hydrological cycle changes at longer time scales than in the near future are discussed.
|
|