166 research outputs found

    Datamama, bringing pregnancy research into the future: design, development, and evaluation of a citizen science pregnancy mobile application

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    Background: Pregnancy mobile applications (apps) have grown in popularity over the past decade, with some being used to promote study recruitment or health behaviors. However, no app serves as an all-in-one solution for collecting general data for research purposes and providing women with useful and desirable features. Aim: To create and develop a Swiss pregnancy mobile app as an innovative means to collect research data and provide users with reliable information. Methods: Determining the key features of the app involved a review of the literature and assessment of popular apps in the Swiss AppStore. A team of engineers developed the app, which includes a pregnancy timeline, questionnaires for data collection, medical and psychological articles and a checklist with appointment reminders. The content was written and reviewed by healthcare providers considered experts in the topics adressed. The questionnaires are distributed based on the user’s gestational age, by a chatbot. The project was authorized by the ethics commission in the canton of Vaud. An online survey of ten questions, advertised on Datamama’s home screen, was conducted to assess the users’ use of the app (27.11- 19.12.2022). Results: A review of 84 articles and 25 popular apps showed the need for a comprehensive pregnancy app. The development of Datamama took 2 years and included the creation of 70 medical and psychological articles and 29 questionnaires covering 300 unique variables. Six months after the launch, there were 800 users with a 73% average participation rate in the questionnaires. Sixty-five women completed the survey, with 70.8% using the app once to multiple times per week. The primary reason for using the app was to help research by answering the questionnaires, followed by access to reliable medical information. The reason most frequently ranked first for using the app was to help research by answering the questionnaires (42/65, 67% of women rated it first), followed by access to reliable medical information (34/65, 54% women rated it second). Women rated the information as clear, understandable, and interesting with a trust rating in data handling at 98.5%. The average grade for recommending the app was 8/10, with suggestions for increasing the amount of medical content and tailoring it based on gestational age. Conclusion: Datamama is the first pregnancy app to address the needs of both patients and researchers. Initial feedback from users was positive, highlighting future challenges for success. Future work will consist in improving the app, validating the data and use it to answer specific pregnancy-related research questions

    Genetic effects on gene expression across human tissues

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    Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression levels across individuals and diverse tissues of the human body, many of which are not easily accessible. Here we describe genetic effects on gene expression levels across 44 human tissues. We find that local genetic variation affects gene expression levels for the majority of genes, and we further identify inter-chromosomal genetic effects for 93 genes and 112 loci. On the basis of the identified genetic effects, we characterize patterns of tissue specificity, compare local and distal effects, and evaluate the functional properties of the genetic effects. We also demonstrate that multi-tissue, multi-individual data can be used to identify genes and pathways affected by human disease-associated variation, enabling a mechanistic interpretation of gene regulation and the genetic basis of diseas

    Long-range angular correlations on the near and away side in p–Pb collisions at

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    Azimuthal anisotropy of charged jet production in root s(NN)=2.76 TeV Pb-Pb collisions

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    We present measurements of the azimuthal dependence of charged jet production in central and semi-central root s(NN) = 2.76 TeV Pb-Pb collisions with respect to the second harmonic event plane, quantified as nu(ch)(2) (jet). Jet finding is performed employing the anti-k(T) algorithm with a resolution parameter R = 0.2 using charged tracks from the ALICE tracking system. The contribution of the azimuthal anisotropy of the underlying event is taken into account event-by-event. The remaining (statistical) region-to-region fluctuations are removed on an ensemble basis by unfolding the jet spectra for different event plane orientations independently. Significant non-zero nu(ch)(2) (jet) is observed in semi-central collisions (30-50% centrality) for 20 <p(T)(ch) (jet) <90 GeV/c. The azimuthal dependence of the charged jet production is similar to the dependence observed for jets comprising both charged and neutral fragments, and compatible with measurements of the nu(2) of single charged particles at high p(T). Good agreement between the data and predictions from JEWEL, an event generator simulating parton shower evolution in the presence of a dense QCD medium, is found in semi-central collisions. (C) 2015 CERN for the benefit of the ALICE Collaboration. Published by Elsevier B.V. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).Peer reviewe

    Forward-central two-particle correlations in p-Pb collisions at root s(NN)=5.02 TeV

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    Two-particle angular correlations between trigger particles in the forward pseudorapidity range (2.5 2GeV/c. (C) 2015 CERN for the benefit of the ALICE Collaboration. Published by Elsevier B. V.Peer reviewe

    Event-shape engineering for inclusive spectra and elliptic flow in Pb-Pb collisions at root(NN)-N-S=2.76 TeV

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    Genetic effects on gene expression across human tissues

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    Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression levels across individuals and diverse tissues of the human body, many of which are not easily accessible. Here we describe genetic effects on gene expression levels across 44 human tissues. We find that local genetic variation affects gene expression levels for the majority of genes, and we further identify inter-chromosomal genetic effects for 93 genes and 112 loci. On the basis of the identified genetic effects, we characterize patterns of tissue specificity, compare local and distal effects, and evaluate the functional properties of the genetic effects. We also demonstrate that multi-tissue, multi-individual data can be used to identify genes and pathways affected by human disease-associated variation, enabling a mechanistic interpretation of gene regulation and the genetic basis of disease

    Pseudorapidity and transverse-momentum distributions of charged particles in proton-proton collisions at root s=13 TeV

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    The pseudorapidity (eta) and transverse-momentum (p(T)) distributions of charged particles produced in proton-proton collisions are measured at the centre-of-mass energy root s = 13 TeV. The pseudorapidity distribution in vertical bar eta vertical bar <1.8 is reported for inelastic events and for events with at least one charged particle in vertical bar eta vertical bar <1. The pseudorapidity density of charged particles produced in the pseudorapidity region vertical bar eta vertical bar <0.5 is 5.31 +/- 0.18 and 6.46 +/- 0.19 for the two event classes, respectively. The transverse-momentum distribution of charged particles is measured in the range 0.15 <p(T) <20 GeV/c and vertical bar eta vertical bar <0.8 for events with at least one charged particle in vertical bar eta vertical bar <1. The evolution of the transverse momentum spectra of charged particles is also investigated as a function of event multiplicity. The results are compared with calculations from PYTHIA and EPOS Monte Carlo generators. (C) 2015 CERN for the benefit of the ALICE Collaboration. Published by Elsevier B.V. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).Peer reviewe

    Elliptic flow of muons from heavy-flavour hadron decays at forward rapidity in Pb-Pb collisions at root s(NN)=2.76TeV

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    The elliptic flow, v(2), of muons from heavy-flavour hadron decays at forward rapidity (2.5 <y <4) is measured in Pb-Pb collisions at root s(NN)= 2.76TeVwith the ALICE detector at the LHC. The scalar product, two- and four-particle Q cumulants and Lee-Yang zeros methods are used. The dependence of the v(2) of muons from heavy-flavour hadron decays on the collision centrality, in the range 0-40%, and on transverse momentum, p(T), is studied in the interval 3 <p(T)<10 GeV/c. A positive v(2) is observed with the scalar product and two-particle Q cumulants in semi-central collisions (10-20% and 20-40% centrality classes) for the p(T) interval from 3 to about 5GeV/c with a significance larger than 3 sigma, based on the combination of statistical and systematic uncertainties. The v(2) magnitude tends to decrease towards more central collisions and with increasing pT. It becomes compatible with zero in the interval 6 <p(T)<10 GeV/c. The results are compared to models describing the interaction of heavy quarks and open heavy-flavour hadrons with the high-density medium formed in high-energy heavy-ion collisions. (C) 2015 CERN for the benefit of the ALICE Collaboration. Published by Elsevier B.V.Peer reviewe

    Centrality evolution of the charged-particle pseudorapidity density over a broad pseudorapidity range in Pb-Pb collisions at root s(NN)=2.76TeV

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