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- Quintana, C., et al.
(författare)
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High Speed Electro-Absorption Modulator for Long Range Retroreflective Free Space Optics
- 2017
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Ingår i: IEEE Photonics Technology Letters. - 1041-1135 .- 1941-0174. ; 29:9, s. 707-710
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Tidskriftsartikel (refereegranskat)abstract
- In this letter, we present the design and implementation of a pixelated electro-absorption modulator-based modulating retroreflector (MRR) for high-speed optical wireless communications. The modulator is based on a multiple quantum well structure embedded in an asymmetric Fabry-Perot cavity. This MRR was used in an outdoor link, operating at 150 Mb/s with a bit error rate (BER) of 1.22 × 10-6 at a range of 200 m. The system was also tested in laboratory-controlled conditions achieving a data rate of 200 Mb/s with a BER of 2 × 10-4. To the best of our knowledge, this is the fastest retroreflective free-space optics demonstration in both the indoor and outdoor environments.
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- Cameron-Christie, Sophia, et al.
(författare)
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Exome-Based Rare-Variant Analyses in CKD
- 2019
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Ingår i: Journal of the American Society of Nephrology. - : AMER SOC NEPHROLOGY. - 1046-6673 .- 1533-3450. ; 30:6, s. 1109-1122
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Tidskriftsartikel (refereegranskat)abstract
- Background Studies have identified many common genetic associations that influence renal function and all-cause CKD, but these explain only a small fraction of variance in these traits. The contribution of rare variants has not been systematically examined. Methods We performed exome sequencing of 3150 individuals, who collectively encompassed diverse CKD subtypes, and 9563 controls. To detect causal genes and evaluate the contribution of rare variants we used collapsing analysis, in which we compared the proportion of cases and controls carrying rare variants per gene. Results The analyses captured five established monogenic causes of CKD: variants in PKD1, PKD2, and COL4A5 achieved study-wide significance, and we observed suggestive case enrichment for COL4A4 and COL4A3. Beyond known disease-associated genes, collapsing analyses incorporating regional variant intolerance identified suggestive dominant signals in CPT2 and several other candidate genes. Biallelic mutations in CPT2 cause carnitine palmitoyltransferase II deficiency, sometimes associated with rhabdomyolysis and acute renal injury. Genetic modifier analysis among cases with APOL1 risk genotypes identified a suggestive signal in AHDC1, implicated in Xia-Gibbs syndrome, which involves intellectual disability and other features. On the basis of the observed distribution of rare variants, we estimate that a two-to three-fold larger cohort would provide 80% power to implicate new genes for all-cause CKD. Conclusions This study demonstrates that rare-variant collapsing analyses can validate known genes and identify candidate genes and modifiers for kidney disease. In so doing, these findings provide a motivation for larger-scale investigation of rare-variant risk contributions across major clinical CKD categories.
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- Groopman, Emily E., et al.
(författare)
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Diagnostic Utility of Exome Sequencing for Kidney Disease
- 2019
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Ingår i: New England Journal of Medicine. - 0028-4793 .- 1533-4406. ; 380:2, s. 142-151
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND Exome sequencing is emerging as a first-line diagnostic method in some clinical disciplines, but its usefulness has yet to be examined for most constitutional disorders in adults, including chronic kidney disease, which affects more than 1 in 10 persons globally.METHODS We conducted exome sequencing and diagnostic analysis in two cohorts totaling 3315 patients with chronic kidney disease. We assessed the diagnostic yield and, among the patients for whom detailed clinical data were available, the clinical implications of diagnostic and other medically relevant findings.RESULTS In all, 3037 patients (91.6%) were over 21 years of age, and 1179 (35.6%) were of self-identified non-European ancestry. We detected diagnostic variants in 307 of the 3315 patients (9.3%), encompassing 66 different monogenic disorders. Of the disorders detected, 39 (59%) were found in only a single patient. Diagnostic variants were detected across all clinically defined categories, including congenital or cystic renal disease (127 of 531 patients [23.9%]) and nephropathy of unknown origin (48 of 281 patients [17.1%]). Of the 2187 patients assessed, 34 (1.6%) had genetic findings for medically actionable disorders that, although unrelated to their nephropathy, would also lead to subspecialty referral and inform renal management.CONCLUSIONS Exome sequencing in a combined cohort of more than 3000 patients with chronic kidney disease yielded a genetic diagnosis in just under 10% of cases.
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- Hébert-Losier, Kim, et al.
(författare)
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Sources of Variability in Performance Times at the World Orienteering Championships
- 2015
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Ingår i: Medicine & Science in Sports & Exercise. - 0195-9131 .- 1530-0315. ; 47:7, s. 1523-1530
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Tidskriftsartikel (refereegranskat)abstract
- Purpose An improvement equal to 0.3 of the typical variation in an elite athlete's race-to-race performance estimates the smallest worthwhile enhancement, which has not yet been determined for orienteers. Moreover, much of the research in high-performance orienteering has focused on physical and cognitive aspects, although course characteristics might influence race performance. Analysis of race data provides insights into environmental effects and other aspects of competitive performance. Our aim was to examine such factors in relation to World Orienteering Championships performances. Methods We used mixed linear modelling to analyze finishing times from the three qualification rounds and final round of the sprint, middle-distance, and long-distance disciplines of World Orienteering Championships from 2006 to 2013. Models accounted for race length, distance climbed, number of controls, home advantage, venue identity, round (qualification final), athlete identity, and athlete age. Results Within-athlete variability (coefficient of variation, mean SD) was lower in the final (4.9% +/- 1.4%) than in the qualification (7.3% +/- 2.4%) rounds and provided estimates of smallest worthwhile enhancements of 1.0%-3.5%. The home advantage was clear in most disciplines, with distance climbed particularly impacting sprint performances. Small to very large between-venue differences were apparent. Performance predictability expressed as intraclass correlation coefficients was extremely high within years and was high to very high between years. Age of peak performance ranged from 27 to 31 yr. Conclusions Our results suggest that elite orienteers should focus on training and strategies that enhance performance by at least 1.0%-3.5% for smallest worthwhile enhancement. Moreover, as greater familiarity with the terrain likely mediated the home advantage, foreign athletes would benefit from training in nations hosting the World Orienteering Championships for familiarization.
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- Lübcke, Peter, et al.
(författare)
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Retrieval of absolute SO2 column amounts from scattered-light spectra: implications for the evaluation of data from automated DOAS networks
- 2016
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Ingår i: Atmospheric Measurement Techniques. - : Copernicus GmbH. - 1867-1381 .- 1867-8548. ; 9:12, s. 5677-5698
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Tidskriftsartikel (refereegranskat)abstract
- Scanning spectrometer networks using scattered solar radiation in the ultraviolet spectral region have become an increasingly important tool for monitoring volcanic sulfur dioxide (SO2) emissions. Often measured spectra are evaluated using the differential optical absorption spectroscopy (DOAS) technique. In order to obtain absolute column densities (CDs), the DOAS evaluation requires a Fraunhofer reference spectrum (FRS) that is free of absorption structures of the trace gas of interest. For measurements at volcanoes such a FRS can be readily obtained if the scan (i.e. series of measurements at different elevation angles) includes viewing directions where the plume is not seen. In this case, it is possible to use these viewing directions (e.g. zenith) as FRS. Possible contaminations of the FRS by the plume can then be corrected by calculating and subtracting an SO2 offset (e.g. the lowest SO2 CD) from all viewing directions of the respective scan. This procedure is followed in the standard evaluations of data from the Network for Observation of Volcanic and Atmospheric Change (NOVAC). While this procedure is very efficient in removing Fraunhofer structures and instrumental effects it has the disadvantage that one can never be sure that there is no SO2 from the plume in the FRS. Therefore, using a modelled FRS (based on a high-resolution solar atlas) has a great advantage. We followed this approach and investigated an SO2 retrieval algorithm using a modelled FRS. In this paper, we present results from two volcanoes that are monitored by NOVAC stations and which frequently emit large volcanic plumes: Nevado del Ruiz (Colombia) recorded between January 2010 and June 2012 and from Tungurahua (Ecuador) recorded between January 2009 and December 2011. Instrumental effects were identified with help of a principal component analysis (PCA) of the residual structures of the DOAS evaluation. The SO2 retrieval performed extraordinarily well with an SO2 DOAS retrieval error of 1-2 x 10(16) [molecules cm(-2)]. Compared to a standard evaluation, we found systematic differences of the differential slant column density (dSCD) of only up to approximate to 15% when looking at the variation of the SO2 within one scan. The major advantage of our new retrieval is that it yields absolute SO2 CDs and that it does not require complicated instrumental calibration in the field (e.g. by employing calibration cells or broadband light sources), since the method exploits the information available in the measurements. We compared our method to an evaluation that is similar to the NOVAC approach, where a spectrum that is recorded directly before the scan is used as an FRS and an SO2 CD offset is subtracted from all retrieved dSCD in the scan to correct for possible SO2 contamination of the FRS. The investigation showed that 21.4% of the scans (containing significant amounts of SO2) at Nevado del Ruiz and 7% of the scans at Tungurahua showed much larger SO2 CDs when evaluated using modelled FRS (more than a factor of 2). For standard evaluations the overall distribution of the SO2 CDs in a scan can in some cases indicate whether the plume affects all viewing directions and thus these scans need to be discarded for NOVAC emission rate evaluation. However, there are other cases where this is not possible and thus the reported SO2 emission rates would be underestimated. The new method can be used to identify these cases and thus it can considerably improve SO2 emission budgets.
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- Sotero-Caio, Cibele G., et al.
(författare)
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Evolution and Diversity of Transposable Elements in Vertebrate Genomes
- 2017
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Ingår i: Genome Biology and Evolution. - : OXFORD UNIV PRESS. - 1759-6653. ; 9:1, s. 161-177
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Tidskriftsartikel (refereegranskat)abstract
- Transposable elements (TEs) are selfish genetic elements that mobilize in genomes via transposition or retrotransposition and often make up large fractions of vertebrate genomes. Here, we review the current understanding of vertebrate TE diversity and evolution in the context of recent advances in genome sequencing and assembly techniques. TEs make up 4-60% of assembled vertebrate genomes, and deeply branching lineages such as ray-finned fishes and amphibians generally exhibit a higher TE diversity than the more recent radiations of birds and mammals. Furthermore, the list of taxa with exceptional TE landscapes is growing. We emphasize that the current bottleneck in genome analyses lies in the proper annotation of TEs and provide examples where superficial analyses led to misleading conclusions about genomeevolution. Finally, recent advances in long-read sequencing will soon permit access to TE-rich genomic regions that previously resisted assembly including the gigantic, TE-rich genomes of salamanders and lungfishes.
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