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- Clark, DW, et al.
(author)
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Associations of autozygosity with a broad range of human phenotypes
- 2019
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In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4957-
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Journal article (peer-reviewed)abstract
- In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.
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- Joshi, Peter K, et al.
(author)
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Directional dominance on stature and cognition in diverse human populations
- 2015
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In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 523:7561, s. 459-462
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Journal article (peer-reviewed)abstract
- Homozygosity has long been associated with rare, often devastating, Mendelian disorders, and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness. However, the effect of the more distant parental relatedness that is common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power. Here we use runs of homozygosity to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts, and find statistically significant associations between summed runs of homozygosity and four complex traits: height, forced expiratory lung volume in one second, general cognitive ability and educational attainment (P < 1 × 10(-300), 2.1 × 10(-6), 2.5 × 10(-10) and 1.8 × 10(-10), respectively). In each case, increased homozygosity was associated with decreased trait value, equivalent to the offspring of first cousins being 1.2 cm shorter and having 10 months' less education. Similar effect sizes were found across four continental groups and populations with different degrees of genome-wide homozygosity, providing evidence that homozygosity, rather than confounding, directly contributes to phenotypic variance. Contrary to earlier reports in substantially smaller samples, no evidence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprotein cholesterol, or ten other cardio-metabolic traits. Since directional dominance is predicted for traits under directional evolutionary selection, this study provides evidence that increased stature and cognitive function have been positively selected in human evolution, whereas many important risk factors for late-onset complex diseases may not have been.
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7. |
- Frazier-Wood, Alexis C., et al.
(author)
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Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses
- 2016
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In: Nature Genetics. - : Nature Research (part of Springer Nature). - 1061-4036 .- 1546-1718. ; 48, s. 624-
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Journal article (peer-reviewed)abstract
- Very few genetic variants have been associated with depression and neuroticism, likely because of limitations on sample size in previous studies. Subjective well-being, a phenotype that is genetically correlated with both of these traits, has not yet been studied with genome-wide data. We conducted genome-wide association studies of three phenotypes: subjective well-being (n = 298,420), depressive symptoms (n = 161,460), and neuroticism (n = 170,911). We identify 3 variants associated with subjective well-being, 2 variants associated with depressive symptoms, and 11 variants associated with neuroticism, including 2 inversion polymorphisms. The two loci associated with depressive symptoms replicate in an independent depression sample. Joint analyses that exploit the high genetic correlations between the phenotypes (vertical bar(p) over cap vertical bar approximate to 0.8) strengthen the overall credibility of the findings and allow us to identify additional variants. Across our phenotypes, loci regulating expression in central nervous system and adrenal or pancreas tissues are strongly enriched for association.
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9. |
- Smith, Jennifer A, et al.
(author)
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Genome-wide association study identifies 74 loci associated with educational attainment
- 2016
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In: Nature (London). - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 533:7604, s. 539-542
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Journal article (peer-reviewed)abstract
- Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals. Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our earlier discovery sample of 101,069 individuals to 293,723 individuals, and a replication study in an independent sample of 111,349 individuals from the UK Biobank. We identify 74 genome-wide significant loci associated with the number of years of schooling completed. Single-nucleotide polymorphisms associated with educational attainment are disproportionately found in genomic regions regulating gene expression in the fetal brain. Candidate genes are preferentially expressed in neural tissue, especially during the prenatal period, and enriched for biological pathways involved in neural development. Our findings demonstrate that, even for a behavioural phenotype that is mostly environmentally determined, a well-powered GWAS identifies replicable associated genetic variants that suggest biologically relevant pathways. Because educational attainment is measured in large numbers of individuals, it will continue to be useful as a proxy phenotype in efforts to characterize the genetic influences of related phenotypes, including cognition and neuropsychiatric diseases.
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- Gustavsson, B., Sergienko, T., Rietveld, M.T., Honary, F., Steen, A., Brandstrom, B.U., Leyser, T.B., Aruliah, A.L., Aso, T., Ejiri, M. and Marple, S.
(author)
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First Tomographic estimate of volume distribution of HF-pump enhanced airglow emission.
- 2001
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In: Journal of Geophysical Research. ; 106:A12, s. 29105-29123
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Journal article (peer-reviewed)abstract
- This report presents the first estimates of the three-dimensional volume emission rate of enhanced O(D-1) 6300 Angstrom airglow caused by HF radio wave pumping in the ionosphere. Images of the excitation show how the initially speckled spatial structure o
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13. |
- Blagoveshchenskaya, N. F., et al.
(author)
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Heater-induced phenomena in a coupled ionosphere-magnetosphere system
- 2006
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In: Advances in Space Research. - : Elsevier BV. - 0273-1177 .- 1879-1948. ; 38:11, s. 2495-2502
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Journal article (peer-reviewed)abstract
- Experimental results from HF pumping experiments in the nightside auroral E and F region are reported. The experiments were carried out by the use of the EISCAT HF heating facility located near Tromso, Norway, allowing HF pumping the ionosphere in a near magnetic field-aligned direction. We present experimental results from multi-instrument observations related to heater-induced phenomena in a coupled ionosphere-magnetosphere system. The following results have been observed on different occasions: a reverberation effect in scattered signals observed simultaneously on two diagnostic paths which is an indication of Alfven wave generation. This phenomenon was seen under specific disturbed background geophysical conditions, namely, a high electron density in the F region up to 8 MHz produced by soft electron precipitation from the magnetosphere along with low electron density in lower ionosphere; increased ionospheric electric fields; ion outflows from the ionosphere. On another occasion a magnetospheric response to heater turning on and off was found from magnetic pulsation observations over a frequency range up to 5 Hz (the upper frequency limit of the sensitive magnetometer at Kilpisjarvi, located near Tromso). The response manifests itself about 1 min after the heater is turned on and off. Other results have shown the modification of a natural auroral arc and local spiral-like formation. It is thought that a local heater-driven current system is formed. An interesting feature is the generation of the heater-induced ion outflows from the ionosphere. They are observed in night hours under both quiet and disturbed magnetic conditions.
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- Blagoveshchenskaya, N.F., Kornienko, V.A., Borisova, T.D., Thidé, B., Kosch, M.J., Rietveld, M.T., Mishin, E.V., Luk'yanova, R.Y. and Troshichev, O.A.
(author)
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Ionospheric HF pump wave triggering of local auroral activation.
- 2001
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In: Journal of Geophysical Research. ; 106, s. 29071-29089
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Journal article (peer-reviewed)abstract
- Experimental results from ionospheric HF pumping experiments in the nightside auroral E region above Tromso are reported. We found intriguing evidence that a modification of the ionosphere-magnetosphere coupling, due to the effects of powerful HF waves be
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15. |
- Gustavsson, B., et al.
(author)
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Electron gyroharmonic effects in ionization and electron acceleration during high-frequency pumping in the ionosphere
- 2006
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In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 97:19, s. 195002-
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Journal article (peer-reviewed)abstract
- Optical emissions and incoherent scatter radar data obtained during high-frequency electromagnetic pumping of the ionospheric plasma from the ground give data on electron energization in an energy range from 2 to 100 eV. Optical emissions at 4278 angstrom from N-2(+) that require electrons with energies above the 18 eV ionization energy give the first images ever of pump-induced ionization of the thermosphere. The intensity at 4278 angstrom is asymmetric around the ionospheric electron gyroharmonic, being stronger above the gyroresonance. This contrasts with emissions at 6300 angstrom from O(D-1) and of electron temperature enhancements, which have minima at the gyroharmonic but have no apparent asymmetry. This direct evidence of pump-induced ionization contradicts previous indirect evidence, which indicated that ionization is most efficiently produced when the pump frequency was below the gyroharmonic.
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16. |
- Isham, B., Hagfors, T., Mishin, E., Rietveld, M.T., LaHoz, C., Kofman, W., Leyser, T.B.
(author)
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A search for the location of the HF excitation of enhanced ion acourstic and Langmuir waves with EISCAT and the Tromsø heater
- 1999
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In: Radiophysics and Quantum Electronics. ; 42:7, s. 607-618
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Journal article (peer-reviewed)
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17. |
- Isham, B., LaHoz, C., Rietveld, M.T., Hagfors, T., Leyser, T.B.
(author)
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Cavitating Langmuir Turbulence Observed during High-Latitude Ionospheric Wave Interaction Experiments
- 1999
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In: Physical Review Letters. ; 83, s. 2576-2579
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Journal article (peer-reviewed)
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18. |
- Isham, B., Rietveld, M.T., Hagfors, T., LaHoz, C., Mishin, E., Kofman, W., Leyser, T.B., van Eyken, A.P
(author)
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Aspect Angle Dependence of HF Enhanced Incoherent Backscatter
- 1999
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In: Advances of Space Research. ; 24, s. 10081-10087
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Journal article (peer-reviewed)
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19. |
- Leyser, T., Gustavsson, Brändström, B.U.E., Steen, Å., Honary, F., Rietveld, M., Aso, T. and Ejiri, M.
(author)
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Simultaneous measurements of high-frequency pump-enhanced airglow and ionospheric temperatures at auroral latitudes.
- 2000
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In: Adv. Polar Upper Atmos. ; 14, s. 2002-1
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Journal article (peer-reviewed)
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20. |
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21. |
- Blagoveshchenskaya, N. F., et al.
(author)
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Artificial field-aligned irregularities in the nightside auroral ionosphere
- 2006
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In: Advances in Space Research. - : Elsevier BV. - 0273-1177 .- 1879-1948. ; 38:11, s. 2503-2510
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Journal article (peer-reviewed)abstract
- Experimental results from two Tromso HF heating experiments in the nightside high latitudinal F region are examined. Bi-static scatter measurements of HF diagnostic signals were carried out on the London-Tromso-St. Petersburg and Pori-Tromso-St. Petersburg paths using a Doppler spectral method. The properties and behaviour of artificial field-aligned small-scale irregularities (striations) in the nightside high latitudinal F-region in course of the Tromso ionospheric modification experiments are studied. Experimental studies have been performed by the use of phased array I with a beamwidth of 6 degrees instead of 12-14 degrees in phased array 2, more often used in Tromso ionospheric modification experiments. The comparison between two experiments carried out in the same background geophysical conditions, shows the strongest striations in the field-aligned position of the heater beam. Possible explanation for this angular dependence is self-focusing of HF pump waves on striations causing the energy to be distributed asymmetrically. A principal question related to HF heating experiments is how is the disturbed auroral ionosphere modified. The results obtained on two paths simultaneously have shown that the strong heater-induced striations were observed along with natural ones. Velocities of heater-induced striations were quite different at different parts of the heated volume. It is suggested that the heater-induced striations can be grouped in two patches at different heights possibly due to the temperature-gradient-driven instability.
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22. |
- Draxler, K., et al.
(author)
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International comparison of current transformer calibration systems up to 10 kA at 50 Hz frequency
- 2016
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In: 2016 Conference on Precision Electromagnetic Measurements (CPEM 2016). - 9781467391344
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Conference paper (peer-reviewed)abstract
- Current transformers (CTs) are precision devices that scale high currents down to values that can be easily handled by measurement equipment. To support CT applications in revenue metering, a comparison on AC current transformer calibration systems was performed among 15 European national metrology institutes using a precision CT as the travelling device. The first comparison results for the transformation ratios (4, 5, 6, 8, 10) kA/5 A of the travelling CT at nominal burden of 5 VA and 15 VA indicate good agreement between the participating laboratories. The main differences are found for phase displacement, at least partly caused by the instability of the traveling standard.
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23. |
- Gustavsson, B., et al.
(author)
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Rise and fall of electron temperatures : Ohmic heating of ionospheric electrons from underdense HF radio wave pumping
- 2010
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In: Journal of Geophysical Research. - 0148-0227 .- 2156-2202. ; 115, s. A12332-
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Journal article (peer-reviewed)abstract
- Here we present electron temperature variations observed with incoherent scatter radar during a European Incoherent Scatter Scientific Association Heating experiment with high-frequency (HF) radio wave transmission at frequencies above the peak ionospheric critical frequency. The electron temperature increased from 2000 K up to 2800 K during the HF transmission periods. During the experiment both pump frequency and polarization were altered between pump pulses. The observed temperature variation is compared with numerical solutions to the electron energy equation with ohmic heating modeling the effect of the radio wave heating of the plasma. Agreement between observations and model is found to be good.
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24. |
- Löfås, Henrik, et al.
(author)
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F-region electron heating by X-mode radiowaves in underdense conditions
- 2009
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In: Annales Geophysicae. - : Copernicus GmbH. - 0992-7689 .- 1432-0576. ; 27:6, s. 2585-2592
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Journal article (peer-reviewed)abstract
- Observations of modifications of the electron temperature in the F-region produced by powerful high frequency radiowaves at 4.04 MHz transmitted in X-mode are presented. The experiments were performed during quiet nighttime conditions with low ionospheric densities so no reflections occurred. Electron temperature enhancements of the order of 300-400K were obtained. Numerical simulation of ohmic heating by the pump wave reproduces both altitude profiles and temporal dependence of the temperature modifications in the experiments.
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25. |
- Blagoveshchenskaya, N.F., Kornienko, V.A., Rietveld, M.T., Thidé, B., Brekke, A., Moskvin, I.V., Nodrachev, S.
(author)
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Stimulated emissions around second harmonic of Tromsø heater frequency observed by long-distance diagnostic HF tools
- 1998
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In: Geophysical Research Letters. ; 25, s. 863-876
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Journal article (peer-reviewed)
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