310 research outputs found
Filtrage d'Arnaques dans un Corpus de Spams : Une application de Filtrar-S à la sécurité du citoyen
National audienceThis paper presents the testing of the softwares designed during the Filtrar-S project that is supported by ANR and belongs to the CSOSG 2008 financial session(http://www.filtrar-s.fr). The semantic filtring module of Filtrar-S has been used to find in a spam corpora the spams that are a kinds of scams and are therefore called Scams. This application responds to a need for the Division de Lutte Contre la Cybercriminalité de la gendarmerie nationale and it was conducted in collaboration with the association Signal Spam (http://www.signal-spam.fr). Actual performance is good and demonstrate the relevance of Filtrar-S to solve problems related to security of the citizen.Cet article présente les résultats d'un essai des logiciels conçus et développés dans le cadre du projet Filtrar-S, financé par l'ANR, dans le cadre du programme CSOSG 2008 (http://www.filtrar-s.fr). Il s'agissait d'utiliser Filtrar-S et son module de filtrage sémantique pour filtrer des spams d'arnaques (ou Scams) dans un corpus de spams. Cette application répond à un besoin de la Division de Lutte Contre la Cybercriminalité de la gendarmerie nationale et elle a été menée en collaboration avec l'association Signal-Spam (http://www.signal-spam.fr). Les performances sont bonnes et démontrent la pertinence de Filtrar-S pour résoudre des problèmes liés à la sécurité du citoyen.
Second-order phase transition at the phase boundary through the FeRh first-order metamagnetic phase transition
The phase coexistence present through first-order phase transitions implies the presence of phase boundary walls, which can be of finite size. Better understanding of the phase boundary wall properties will provide an insight into the dynamics of first-order phase transitions. Here, by combining x-ray photon correlation spectroscopy investigations with magnetometry measurements of magnetic relaxation through the thermally activated first-order metamagnetic phase transition present in the B2-ordered FeRh alloy, we are able to isolate the dynamic behaviour of the phase boundary wall present in this system. These investigations reveal a change in the nature of the dynamic behaviour and critical scaling of the relaxation time centred around the point of maximum phase coexistence within the phase transition. All of this behaviour can be attributed to the introduction of exchange coupling across the phase boundary wall and raises questions about the role of latent heat in dynamic behaviour of this region
Primary brain calcification: an international study reporting novel variants and associated phenotypes.
Primary familial brain calcification (PFBC) is a rare cerebral microvascular calcifying disorder with a wide spectrum of motor, cognitive, and neuropsychiatric symptoms. It is typically inherited as an autosomal-dominant trait with four causative genes identified so far: SLC20A2, PDGFRB, PDGFB, and XPR1. Our study aimed at screening the coding regions of these genes in a series of 177 unrelated probands that fulfilled the diagnostic criteria for primary brain calcification regardless of their family history. Sequence variants were classified as pathogenic, likely pathogenic, or of uncertain significance (VUS), based on the ACMG-AMP recommendations. We identified 45 probands (25.4%) carrying either pathogenic or likely pathogenic variants (n = 34, 19.2%) or VUS (n = 11, 6.2%). SLC20A2 provided the highest contribution (16.9%), followed by XPR1 and PDGFB (3.4% each), and PDGFRB (1.7%). A total of 81.5% of carriers were symptomatic and the most recurrent symptoms were parkinsonism, cognitive impairment, and psychiatric disturbances (52.3%, 40.9%, and 38.6% of symptomatic individuals, respectively), with a wide range of age at onset (from childhood to 81 years). While the pathogenic and likely pathogenic variants identified in this study can be used for genetic counseling, the VUS will require additional evidence, such as recurrence in unrelated patients, in order to be classified as pathogenic
Asymmetric magnetic relaxation behavior of domains and domain walls observed through the FeRh first-order metamagnetic phase transition
The phase coexistence present through a first-order phase transition means there will be finite regions between the two phases where the structure of the system will vary from one phase to the other, known as a phase boundary wall. This region is said to play an important but unknown role in the dynamics of the first-order phase transitions. Here, by using both x-ray photon correlation spectroscopy and magnetometry techniques to measure the temporal isothermal development at various points through the thermally activated first-order metamagnetic phase transition present in the near-equiatomic FeRh alloy, we are able to isolate the dynamic behavior of the domain walls in this system. These investigations reveal that relaxation behavior of the domain walls changes when phase coexistence is introduced into the system and that the domain-wall dynamics is different to the macroscale behavior. We attribute this to the effect of the exchange coupling between regions of either magnetic phase changing the dynamic properties of domain walls relative to bulk regions of either phase. We also believe this behavior comes from the influence of the phase boundary wall on other magnetic objects in the system
TYROBP genetic variants in early-onset Alzheimer's disease
We aimed to identify new candidate genes potentially involved in early-onset Alzheimer's disease (EOAD). Exome sequencing was conducted on 45 EOAD patients with either a family history of Alzheimer's disease (AD, <65 years) or an extremely early age at the onset (≤55 years) followed by multiple variant filtering according to different modes of inheritance. We identified 29 candidate genes potentially involved in EOAD, of which the gene TYROBP, previously implicated in AD, was selected for genetic and functional follow-up. Using 3 patient cohorts, we observed rare coding TYROBP variants in 9 out of 1110 EOAD patients, whereas no such variants were detected in 1826 controls (p = 0.0001), suggesting that at least some rare TYROBP variants might contribute to EOAD risk. Overexpression of the p.D50_L51ins14 TYROBP mutant led to a profound reduction of TREM2 expression, a well-established risk factor for AD. This is the first study supporting a role for genetic variation in TYROBP in EOAD, with in vitro support for a functional effect of the p.D50_L51ins14 TYROBP mutation on TREM2 expression
Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds.
Presenilin 1 (PSEN1) mutations are the main cause of autosomal dominant Early-onset Alzheimer Disease (EOAD). Among them, deletions of exon 9 have been reported to be associated with a phenotype of spastic paraparesis. Using exome data from a large sample of 522 EOAD cases and 584 controls to search for genomic copy-number variations (CNVs), we report here a novel partial, in-frame deletion of PSEN1, removing both exons 9 and 10. The patient presented with memory impairment associated with spastic paraparesis, both starting from the age of 56years. He presented a positive family history of EOAD. We performed functional analysis to elucidate the impact of this novel deletion on PSEN1 activity as part of the γ-secretase complex. The deletion does not affect the assembly of a mature protease complex but has an extreme impact on its global endopeptidase activity. The mutant carboxypeptidase-like activity is also strongly impaired and the deleterious mutant effect leads to an incomplete digestion of long Aβ peptides and enhances the production of Aβ43, which has been shown to be potently amyloidogenic and neurotoxic in vivo
Exome sequencing identifies novel AD-associated genes
The genetic component of Alzheimer’s disease (AD) has been mainly assessed using Genome Wide Association Studies (GWAS), which do not capture the risk contributed by rare variants. Here, we compared the gene-based burden of rare damaging variants in exome sequencing data from 32,558 individuals —16,036 AD cases and 16,522 controls— in a two-stage analysis. Next to known genes TREM2, SORL1 and ABCA7, we observed a significant association of rare, predicted damaging variants in ATP8B4 and ABCA1 with AD risk, and a suggestive signal in ADAM10. Next to these genes, the rare variant burden in RIN3, CLU, ZCWPW1 and ACE highlighted these genes as potential driver genes in AD-GWAS loci. Rare damaging variants in these genes, and in particular loss-of-function variants, have a large effect on AD-risk, and they are enriched in early onset AD cases. The newly identified AD-associated genes provide additional evidence for a major role for APP-processing, Aβ-aggregation, lipid metabolism and microglial function in AD
Gaia Early Data Release 3: Summary of the contents and survey properties
ABSTRACT: Context. We present the early installment of the third Gaia data release, Gaia EDR3, consisting of astrometry and photometry for 1.8 billion sources brighter than magnitude 21, complemented with the list of radial velocities from Gaia DR2.
Aims. A summary of the contents of Gaia EDR3 is presented, accompanied by a discussion on the differences with respect to Gaia DR2 and an overview of the main limitations which are present in the survey. Recommendations are made on the responsible use of Gaia EDR3 results.
Methods. The raw data collected with the Gaia instruments during the first 34 months of the mission have been processed by the Gaia Data Processing and Analysis Consortium and turned into this early third data release, which represents a major advance with respect to Gaia DR2 in terms of astrometric and photometric precision, accuracy, and homogeneity.
Results. Gaia EDR3 contains celestial positions and the apparent brightness in G for approximately 1.8 billion sources. For 1.5 billion of those sources, parallaxes, proper motions, and the (GBP ? GRP) colour are also available. The passbands for G, GBP, and GRP are provided as part of the release. For ease of use, the 7 million radial velocities from Gaia DR2 are included in this release, after the removal of a small number of spurious values. New radial velocities will appear as part of Gaia DR3. Finally, Gaia EDR3 represents an updated materialisation of the celestial reference frame (CRF) in the optical, the Gaia-CRF3, which is based solely on extragalactic sources. The creation of the source list for Gaia EDR3 includes enhancements that make it more robust with respect to high proper motion stars, and the disturbing effects of spurious and partially resolved sources. The source list is largely the same as that for Gaia DR2, but it does feature new sources and there are some notable changes. The source list will not change for Gaia DR3. Conclusions. Gaia EDR3 represents a significant advance over Gaia DR2, with parallax precisions increased by 30 per cent, proper motion precisions increased by a factor of 2, and the systematic errors in the astrometry suppressed by 30-40% for the parallaxes and by a factor ~2.5 for the proper motions. The photometry also features increased precision, but above all much better homogeneity across colour, magnitude, and celestial position. A single passband for G, GBP, and GRP is valid over the entire magnitude and colour range, with no systematics above the 1% levelThe Gaia mission and data processing have financially been supported by ; the Spanish Ministry of Economy (MINECO/FEDER, UE) through grants ESP2016-80079-C2-1-R, ESP2016-80079-C2-2-R, RTI2018-095076-B-C21, RTI2018-095076-B-C22, BES-2016-078499, and BES-2017-083126 and the Juan de la Cierva formación 2015 grant FJCI-2015-2671, the Spanish Ministry of Education, Culture, and Sports through grant FPU16/03827, the Spanish Ministry of Science and Innovation (MICINN) through grant
AYA2017-89841P for project “Estudio de las propiedades de los fósiles estelares en el entorno del Grupo Local” and through grant TIN2015-65316-P for project
“Computación de Altas Prestaciones VII
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Gaia Early Data Release 3: The celestial reference frame (Gaia-CRF3)
Context. Gaia-CRF3 is the celestial reference frame for positions and proper motions in the third release of data from the Gaia mission, Gaia DR3 (and for the early third release, Gaia EDR3, which contains identical astrometric results). The reference frame is defined by the positions and proper motions at epoch 2016.0 for a specific set of extragalactic sources in the (E)DR3 catalogue. Aims. We describe the construction of Gaia-CRF3 and its properties in terms of the distributions in magnitude, colour, and astrometric quality. Methods. Compact extragalactic sources in Gaia DR3 were identified by positional cross-matching with 17 external catalogues of quasi-stellar objects (QSO) and active galactic nuclei (AGN), followed by astrometric filtering designed to remove stellar contaminants. Selecting a clean sample was favoured over including a higher number of extragalactic sources. For the final sample, the random and systematic errors in the proper motions are analysed, as well as the radio-optical offsets in position for sources in the third realisation of the International Celestial Reference Frame (ICRF3). Results. Gaia-CRF3 comprises about 1.6 million QSO-like sources, of which 1.2 million have five-parameter astrometric solutions in Gaia DR3 and 0.4 million have six-parameter solutions. The sources span the magnitude range G = 13-21 with a peak density at 20.6 mag, at which the typical positional uncertainty is about 1 mas. The proper motions show systematic errors on the level of 12 μas yr-1 on angular scales greater than 15 deg. For the 3142 optical counterparts of ICRF3 sources in the S/X frequency bands, the median offset from the radio positions is about 0.5 mas, but it exceeds 4 mas in either coordinate for 127 sources. We outline the future of Gaia-CRF in the next Gaia data releases. Appendices give further details on the external catalogues used, how to extract information about the Gaia-CRF3 sources, potential (Galactic) confusion sources, and the estimation of the spin and orientation of an astrometric solution
Gaia Focused Product Release: A catalogue of sources around quasars to search for strongly lensed quasars
Context. Strongly lensed quasars are fundamental sources for cosmology. The
Gaia space mission covers the entire sky with the unprecedented resolution of
" in the optical, making it an ideal instrument to search for
gravitational lenses down to the limiting magnitude of 21. Nevertheless, the
previous Gaia Data Releases are known to be incomplete for small angular
separations such as those expected for most lenses. Aims. We present the Data
Processing and Analysis Consortium GravLens pipeline, which was built to
analyse all Gaia detections around quasars and to cluster them into sources,
thus producing a catalogue of secondary sources around each quasar. We analysed
the resulting catalogue to produce scores that indicate source configurations
that are compatible with strongly lensed quasars. Methods. GravLens uses the
DBSCAN unsupervised clustering algorithm to detect sources around quasars. The
resulting catalogue of multiplets is then analysed with several methods to
identify potential gravitational lenses. We developed and applied an outlier
scoring method, a comparison between the average BP and RP spectra of the
components, and we also used an extremely randomised tree algorithm. These
methods produce scores to identify the most probable configurations and to
establish a list of lens candidates. Results. We analysed the environment of 3
760 032 quasars. A total of 4 760 920 sources, including the quasars, were
found within 6" of the quasar positions. This list is given in the Gaia
archive. In 87\% of cases, the quasar remains a single source, and in 501 385
cases neighbouring sources were detected. We propose a list of 381 lensed
candidates, of which we identified 49 as the most promising. Beyond these
candidates, the associate tables in this Focused Product Release allow the
entire community to explore the unique Gaia data for strong lensing studies
further.Comment: 35 pages, 60 figures, accepted for publication by Astronomy and
Astrophysic
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