| 1. |
- DeMott, Paul J., et al.
(author)
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The Fifth International Workshop on Ice Nucleation phase 2 (FIN-02) : Laboratory intercomparison of ice nucleation measurements
- 2018
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In: Atmospheric Measurement Techniques. - : Copernicus GmbH. - 1867-1381 .- 1867-8548. ; 11:11, s. 6231-6257
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Journal article (peer-reviewed)abstract
- The second phase of the Fifth International Ice Nucleation Workshop (FIN-02) involved the gathering of a large number of researchers at the Karlsruhe Institute of Technology's Aerosol Interactions and Dynamics of the Atmosphere (AIDA) facility to promote characterization and understanding of ice nucleation measurements made by a variety of methods used worldwide. Compared to the previous workshop in 2007, participation was doubled, reflecting a vibrant research area. Experimental methods involved sampling of aerosol particles by direct processing ice nucleation measuring systems from the same volume of air in separate experiments using different ice nucleating particle (INP) types, and collections of aerosol particle samples onto filters or into liquid for sharing amongst measurement techniques that post-process these samples. In this manner, any errors introduced by differences in generation methods when samples are shared across laboratories were mitigated. Furthermore, as much as possible, aerosol particle size distribution was controlled so that the size limitations of different methods were minimized. The results presented here use data from the workshop to assess the comparability of immersion freezing measurement methods activating INPs in bulk suspensions, methods that activate INPs in condensation and/or immersion freezing modes as single particles on a substrate, continuous flow diffusion chambers (CFDCs) directly sampling and processing particles well above water saturation to maximize immersion and subsequent freezing of aerosol particles, and expansion cloud chamber simulations in which liquid cloud droplets were first activated on aerosol particles prior to freezing. The AIDA expansion chamber measurements are expected to be the closest representation to INP activation in atmospheric cloud parcels in these comparisons, due to exposing particles freely to adiabatic cooling. The different particle types used as INPs included the minerals illite NX and potassium feldspar (K-feldspar), two natural soil dusts representative of arable sandy loam (Argentina) and highly erodible sandy dryland (Tunisia) soils, respectively, and a bacterial INP (Snomax®). Considered together, the agreement among post-processed immersion freezing measurements of the numbers and fractions of particles active at different temperatures following bulk collection of particles into liquid was excellent, with possible temperature uncertainties inferred to be a key factor in determining INP uncertainties. Collection onto filters for rinsing versus directly into liquid in impingers made little difference. For methods that activated collected single particles on a substrate at a controlled humidity at or above water saturation, agreement with immersion freezing methods was good in most cases, but was biased low in a few others for reasons that have not been resolved, but could relate to water vapor competition effects. Amongst CFDC-style instruments, various factors requiring (variable) higher supersaturations to achieve equivalent immersion freezing activation dominate the uncertainty between these measurements, and for comparison with bulk immersion freezing methods. When operated above water saturation to include assessment of immersion freezing, CFDC measurements often measured at or above the upper bound of immersion freezing device measurements, but often underestimated INP concentration in comparison to an immersion freezing method that first activates all particles into liquid droplets prior to cooling (the PIMCA-PINC device, or Portable Immersion Mode Cooling chAmber-Portable Ice Nucleation Chamber), and typically slightly underestimated INP number concentrations in comparison to cloud parcel expansions in the AIDA chamber; this can be largely mitigated when it is possible to raise the relative humidity to sufficiently high values in the CFDCs, although this is not always possible operationally. Correspondence of measurements of INPs among direct sampling and post-processing systems varied depending on the INP type. Agreement was best for Snomax® particles in the temperature regime colder than -10°C, where their ice nucleation activity is nearly maximized and changes very little with temperature. At temperatures warmer than -10°C, Snomax® INP measurements (all via freezing of suspensions) demonstrated discrepancies consistent with previous reports of the instability of its protein aggregates that appear to make it less suitable as a calibration INP at these temperatures. For Argentinian soil dust particles, there was excellent agreement across all measurement methods; measures ranged within 1 order of magnitude for INP number concentrations, active fractions and calculated active site densities over a 25 to 30°C range and 5 to 8 orders of corresponding magnitude change in number concentrations. This was also the case for all temperatures warmer than -25°C in Tunisian dust experiments. In contrast, discrepancies in measurements of INP concentrations or active site densities that exceeded 2 orders of magnitude across a broad range of temperature measurements found at temperatures warmer than -25°C in a previous study were replicated for illite NX. Discrepancies also exceeded 2 orders of magnitude at temperatures of -20 to -25°C for potassium feldspar (K-feldspar), but these coincided with the range of temperatures at which INP concentrations increase rapidly at approximately an order of magnitude per 2°C cooling for K-feldspar. These few discrepancies did not outweigh the overall positive outcomes of the workshop activity, nor the future utility of this data set or future similar efforts for resolving remaining measurement issues. Measurements of the same materials were repeatable over the time of the workshop and demonstrated strong consistency with prior studies, as reflected by agreement of data broadly with parameterizations of different specific or general (e.g., soil dust) aerosol types. The divergent measurements of the INP activity of illite NX by direct versus post-processing methods were not repeated for other particle types, and the Snomax° data demonstrated that, at least for a biological INP type, there is no expected measurement bias between bulk collection and direct immediately processed freezing methods to as warm as -10°C. Since particle size ranges were limited for this workshop, it can be expected that for atmospheric populations of INPs, measurement discrepancies will appear due to the different capabilities of methods for sampling the full aerosol size distribution, or due to limitations on achieving sufficient water supersaturations to fully capture immersion freezing in direct processing instruments. Overall, this workshop presents an improved picture of present capabilities for measuring INPs than in past workshops, and provides direction toward addressing remaining measurement issues.
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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. |
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| 4. |
- 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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| 5. |
- Adare, A., et al.
(author)
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Charged hadron multiplicity fluctuations in Au plus Au and Cu plus Cu collisions from s(NN)=22.5 to 200 GeV
- 2008
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In: Physical Review C (Nuclear Physics). - 0556-2813. ; 78:4
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Journal article (peer-reviewed)abstract
- A comprehensive survey of event-by-event fluctuations of charged hadron multiplicity in relativistic heavy ions is presented. The survey covers Au+Au collisions at s(NN)=62.4 and 200 GeV, and Cu+Cu collisions at s(NN)=22.5,62.4, and 200 GeV. Fluctuations are measured as a function of collision centrality, transverse momentum range, and charge sign. After correcting for nondynamical fluctuations due to fluctuations in the collision geometry within a centrality bin, the remaining dynamical fluctuations expressed as the variance normalized by the mean tend to decrease with increasing centrality. The dynamical fluctuations are consistent with or below the expectation from a superposition of participant nucleon-nucleon collisions based upon p+p data, indicating that this dataset does not exhibit evidence of critical behavior in terms of the compressibility of the system. A comparison of the data with a model where hadrons are independently emitted from a number of hadron clusters suggests that the mean number of hadrons per cluster is small in heavy ion collisions.
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| 6. |
- Adare, A., et al.
(author)
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Cold nuclear matter effects on J/psi production as constrained by deuteron-gold measurements at root S-NN=200 GeV
- 2008
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In: Physical Review C (Nuclear Physics). - 0556-2813. ; 77:2, s. 15-024912
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Journal article (peer-reviewed)abstract
- We present a new analysis of J/psi production yields in deuteron-gold collisions at root s(NN) =200 GeV using data taken from the PHENIX experiment in 2003 and previously published in S. S. Adler [Phys. Rev. Lett 96, 012304 (2006)]. The high statistics proton-proton J/psi data taken in 2005 are used to improve the baseline measurement and thus construct updated cold nuclear matter modification factors (R-dAu). A suppression of J/psi in cold nuclear matter is observed as one goes forward in rapidity (in the deuteron-going direction), corresponding to a region more sensitive to initial-state low-x gluons in the gold nucleus. The measured nuclear modification factors are compared to theoretical calculations of nuclear shadowing to which a J/psi (or precursor) breakup cross section is added. Breakup cross sections of sigma(breakup)=2.8(-1.4)(+1.7) (2.2(-1.5)(+1.6)) mb are obtained by fitting these calculations to the data using two different models of nuclear shadowing. These breakup cross-section values are consistent within large uncertainties with the 4.2 +/- 0.5 mb determined at lower collision energies. Projecting this range of cold nuclear matter effects to copper-copper and gold-gold collisions reveals that the current constraints are not sufficient to firmly quantify the additional hot nuclear matter effect.
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| 7. |
- Adare, A., et al.
(author)
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Correlated production of p and (p)over-bar in Au+Au collisions at root s(NN)=200 GeV
- 2007
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In: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 649:5-6, s. 359-369
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Journal article (peer-reviewed)abstract
- Correlations between p and (p) over bar at transverse momenta typical of enhanced baryon production in Au + Au collisions are reported. The PHENIX experiment has measured same and opposite sign baryon pairs in Au + Au collisions at root s(NN) = 200 GeV. Correlated production of p and p with the trigger particle from the range 2.5 < p(T) < 4.0 GeV/c and the associated particle with 1.8 < p(T) < 2.5 GeV/c is observed to be nearly independent of the centrality of the collisions. Same sign pairs show no correlation at any centrality. The conditional yield of mesons triggered by baryons (and anti-baryons) and mesons in the same p(T) range rises with increasing centrality, except for the most central collisions, where baryons show a significantly smaller number of associated mesons. These data are consistent with a picture in which hard scattered partons produce correlated p and (p) over bar in the p(T) region of the baryon excess. (c) 2007 Elsevier B.V. All rights reserved.
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| 8. |
- Adare, A., et al.
(author)
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Detailed measurement of the e(+)e(-) pair continuum in p plus p and Au plus Au collisions at root s(NN)=200 GeV and implications for direct photon production
- 2010
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In: Physical Review C (Nuclear Physics). - 0556-2813. ; 81:3
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Journal article (peer-reviewed)abstract
- PHENIX has measured the e(+)e(-) pair continuum in root s(NN) = 200 GeV Au+Au and p+p collisions over a wide range of mass and transverse momenta. The e(+)e(-) yield is compared to the expectations from hadronic sources, based on PHENIX measurements. In the intermediate-mass region, between the masses of the phi and the J/psi meson, the yield is consistent with expectations from correlated c (c) over bar production, although other mechanisms are not ruled out. In the low-mass region, below the phi, the p+p inclusive mass spectrum is well described by known contributions from light meson decays. In contrast, the Au+Au minimum bias inclusive mass spectrum in this region shows an enhancement by a factor of 4.7 +/- 0.4(stat) +/- 1.5(syst) +/- 0.9(model). At low mass (m(ee) < 0.3 GeV/c(2)) and high p(T) (1 < p(T) < 5 GeV/c) an enhanced e(+)e(-) pair yield is observed that is consistent with production of virtual direct photons. This excess is used to infer the yield of real direct photons. In central Au+Au collisions, the excess of the direct photon yield over the p+p is exponential in p(T), with inverse slope T = 221 +/- 19(stat) +/- 19(syst) MeV. Hydrodynamical models with initial temperatures ranging from T-init similar or equal to 300-600 MeV at times of 0.6-0.15 fm/c after the collision are in qualitative agreement with the direct photon data in Au+Au. For low p(T) < 1 GeV/c the low-mass region shows a further significant enhancement that increases with centrality and has an inverse slope of T similar or equal to 100 MeV. Theoretical models underpredict the low-mass, low-p(T) enhancement.
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| 9. |
- Adare, A., et al.
(author)
-
Dihadron azimuthal correlations in Au+Au collisions at root s(NN)=200 GeV
- 2008
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In: Physical Review C (Nuclear Physics). - 0556-2813. ; 78:1
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Journal article (peer-reviewed)abstract
- Azimuthal angle (Delta phi) correlations are presented for a broad range of transverse momentum (0.4 < p(T) < 10 GeV/c) and centrality (0-92%) selections for charged hadrons from dijets in Au+Au collisions at root s(NN) = 200 GeV. With increasing p(T), the away-side Delta phi distribution evolves from a broad and relatively flat shape to a concave shape, then to a convex shape. Comparisons with p + p data suggest that the away-side distribution can be divided into a partially suppressed "head" region centered at Delta phi similar to pi, and an enhanced "shoulder" region centered at Delta phi similar to pi +/- 1.1. The p(T) spectrum for the associated hadrons in the head region softens toward central collisions. The spectral slope for the shoulder region is independent of centrality and trigger p(T). The properties of the near-side distributions are also modified relative to those in p + p collisions, reflected by the broadening of the jet shape in Delta phi and Delta eta, and an enhancement of the per-trigger yield. However, these modifications seem to be limited to p(T)less than or similar to 4 GeV/c, above which both the hadron pair shape and per-trigger yield become similar to p + p collisions. These observations suggest that both the away- and near-side distributions contain a jet fragmentation component which dominates for p(T) greater than or similar to 5 GeV/c and a medium-induced component which is important for p(T) less than or similar to 4 GeV/c. We also quantify the role of jets at intermediate and low p(T) through the yield of jet-induced pairs in comparison with binary scaled p + p pair yield. The yield of jet-induced pairs is suppressed at high pair proxy energy (sum of the p(T) magnitudes of the two hadrons) and is enhanced at low pair proxy energy. The former is consistent with jet quenching; the latter is consistent with the enhancement of soft hadron pairs due to transport of lost energy to lower p(T).
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| 10. |
- Adare, A., et al.
(author)
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Direct photon production in d+Au collisions at root s(NN)=200 GeV
- 2013
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In: Physical Review C (Nuclear Physics). - 0556-2813. ; 87:5
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Journal article (peer-reviewed)abstract
- Direct photons have been measured in root s(NN) = 200 GeV d + Au collisions at midrapidity. A wide p(T) range is covered by measurements of nearly real virtual photons (1 < p(T) < 6 GeV/c) and real photons (5 < p(T) < 16 GeV/c). The invariant yield of the direct photons in d + Au collisions over the scaled p + p cross section is consistent with unity. Theoretical calculations assuming standard cold-nuclear-matter effects describe the data well for the entire p(T) range. This indicates that the large enhancement of direct photons observed in Au + Au collisions for 1.0 < p(T) < 2.5 GeV/c is attributable to a source other than the initial-state nuclear effects.
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