| 1. |
- Garnier, Nicolas, et al.
(författare)
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Genetic newborn screening and digital technologies : A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe
- 2023
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Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 18:11
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Tidskriftsartikel (refereegranskat)abstract
- Since 72% of rare diseases are genetic in origin and mostly paediatrics, genetic newborn screening represents a diagnostic "window of opportunity". Therefore, many gNBS initiatives started in different European countries. Screen4Care is a research project, which resulted of a joint effort between the European Union Commission and the European Federation of Pharmaceutical Industries and Associations. It focuses on genetic newborn screening and artificial intelligence-based tools which will be applied to a large European population of about 25.000 infants. The neonatal screening strategy will be based on targeted sequencing, while whole genome sequencing will be offered to all enrolled infants who may show early symptoms but have resulted negative at the targeted sequencing-based newborn screening. We will leverage artificial intelligence-based algorithms to identify patients using Electronic Health Records (EHR) and to build a repository "symptom checkers" for patients and healthcare providers. S4C will design an equitable, ethical, and sustainable framework for genetic newborn screening and new digital tools, corroborated by a large workout where legal, ethical, and social complexities will be addressed with the intent of making the framework highly and flexibly translatable into the diverse European health systems.
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| 2. |
- Welty, Daniel E., et al.
(författare)
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Detection of interstellar C2 and C3 in the Small Magellanic Cloud
- 2013
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Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 428:2, s. 1107-1115
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Tidskriftsartikel (refereegranskat)abstract
- We report the detection of absorption from interstellar C2 and C3 towards the moderately reddened star Sk 143, located in the near `wing' region of the SMC, in optical spectra obtained with the European Southern Observatory Very Large Telescope (VLT)/Ultraviolet and Visual Echelle Spectrograph. These detections of C2 (rotational levels J = 0-8) and C3 (J = 0-12) absorption in the SMC are the first beyond our Galaxy. The total abundances of C2 and C3 (relative to H2) are similar to those found in diffuse Galactic molecular clouds - as previously found for CH and CN - despite the significantly lower average metallicity of the Small Magellanic Cloud. Analysis of the rotational excitation of C2 yields an estimated kinetic temperature Tk ˜ 25 K and a moderately high total hydrogen density nH ˜ 870 cm-3 - compared to the T01 ˜ 45 K and nH ˜ 85-300 cm-3 obtained from H2. The populations of the lower rotational levels of C3 are consistent with an excitation temperature of about 34 K.
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| 3. |
- Yver-kwok, Camille, et al.
(författare)
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Evaluation and optimization of ICOS atmosphere station data as part of the labeling process
- 2021
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Ingår i: Atmospheric Measurement Techniques. - : Copernicus GmbH. - 1867-8548 .- 1867-1381. ; 14:1, s. 89-116
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Tidskriftsartikel (refereegranskat)abstract
- The Integrated Carbon Observation System (ICOS) is a pan-European research infrastructure which provides harmonized and high-precision scientific data on the carbon cycle and the greenhouse gas budget. All stations have to undergo a rigorous assessment before being labeled, i.e., receiving approval to join the network. In this paper, we present the labeling process for the ICOS atmosphere network through the 23 stations that were labeled between November 2017 and November 2019. We describe the labeling steps, as well as the quality controls, used to verify that the ICOS data (CO2, CH4, CO and meteorological measurements) attain the expected quality level defined within ICOS. To ensure the quality of the greenhouse gas data, three to four calibration gases and two target gases are measured: one target two to three times a day, the other gases twice a month. The data are verified on a weekly basis, and tests on the station sampling lines are performed twice a year. From these high-quality data, we conclude that regular calibrations of the CO2, CH4 and CO analyzers used here (twice a month) are important in particular for carbon monoxide (CO) due to the analyzer's variability and that reducing the number of calibration injections (from four to three) in a calibration sequence is possible, saving gas and extending the calibration gas lifespan. We also show that currently, the on-site water vapor correction test does not deliver quantitative results possibly due to environmental factors. Thus the use of a drying system is strongly recommended. Finally, the mandatory regular intake line tests are shown to be useful in detecting artifacts and leaks, as shown here via three different examples at the stations.
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