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Incidental and secondary findings in trio exome sequencing

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Genes & Diseases 2024年第4期11卷 152-154页

作者： Camille Cohen Emeline Bellanger Jeremie Mortreux Laure Raymond Francois Vialard rodolphe Dard Department of Genetics Centre Hospitalier Intercommunal de Poissy-Saint-Germain-en-LayePoissy 78300France RHuMA UMR-BREEDINRA-ENVA-UVSQMontigny le Bretonneux 78180France Service de Genetique Laboratoire Eurofins BiomnisLyon 69007France

Exome sequencing(ES)generates secondary findings(SFs)in 2%of tested individuals if one follows the American College of Medical Genetics and Genomics(ACMG)guide-lines.i,z2 However,the rate of incidental and secondary findings(ISFs)is higher in routine clinical practice because of(i)the use of trio ES instead of solo sequencing and(i)the exclusion of the incidental findings(IFs)of medical value concerning genes in the ACMG ***,it is not clear how sufficient is a restricted list of genes to detect every ISF of major clinical value;and what is the amount of additional workload for the laboratory.

关键词： routine clinical finding

Label-free biosensing with singular-phaseenhanced lateral position shift based on atomically thin plasmonic nanomaterials

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Light(Science & Applications) 2024年第5期13卷 810-822页

作者： Shaodi Zhu rodolphe Jaffiol Aurelian Crunteanu Cyrille Vézy Sik-To Chan Wu Yuan Ho-Pui Ho Shuwen Zeng Light Nanomaterials&Nanotechnologies(L2n)CNRS-EMR 7004University of Technology of Troyes10000 TroyesFrance. Department of Biomedical Engineering The Chinese University of Hong KongShatinNew TerritoriesHong KongChina XLIM Research Institute UMR 7252 CNRS/University of Limoges123Avenue Albert ThomasLimogesFrance

Rapid plasmonic biosensing has attracted wide attention in early disease diagnosis and molecular biology ***,it was still challenging for conventional angle-interrogating plasmonic sensors to obtain higher sensitivity without secondary amplifying labels such as plasmonic *** address this issue,we developed a plasmonic biosensor based on the enhanced lateral position shift by phase *** singularity presents as a sudden phase retardation at the dark point of reflection from resonating plasmonic substrate,leading to a giant position shift on reflected ***,for the first time,the atomically thin layer of Ge2Sb2Te5(GST)on silver nanofilm was demonstrated as a novel phase-response-enhancing plasmonic *** GST layer was not only precisely engineered to singularize phase change but also served as a protective layer for active silver *** new configuration has achieved a record-breaking largest position shift of 439.3μm measured in calibration experiments with an ultra-high sensitivity of 1.72×10^(8)nm RIU−1(refractive index unit).The detection limit was determined to be 6.97×10^(−7)RIU with a 0.12μm position ***,a large figure of merit(FOM)of 4.54×10^(11)μm(RIU∙°)^(−1)was evaluated for such position shift interrogation,enabling the labelfree detection of trace amounts of *** targeted biosensing experiments,the optimized sensor has successfully detected small cytokine biomarkers(TNF-αand IL-6)with the lowest concentration of 1×10^(−16)*** two molecules are the key proinflammatory cancer markers in clinical diagnosis,which cannot be directly screened by current clinical *** further validate the selectivity of our sensing systems,we also measured the affinity of integrin binding to arginylglycylaspartic acid(RGD)peptide(a key protein interaction in cell adhesion)with different Mn2+ion concentrations,ranging from 1 nM to 1 mM.

关键词： diagnosis protective silver

Contributors’enrollment in collaborative online communities:the case of OpenStreetMap

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Geo-Spatial Information Science 2017年第3期20卷 282-295页

作者： Daniel Bégin rodolphe Devillers Stéphane Roche Department of Geography Memorial University of NewfoundlandSt.John’sCanada Centre de Recherche en Géomatique UniversitéLavalQuébecCanada

The number of people registering in an online community depends on two main factors:interest in,and awareness of,the *** to a project does not,however,imply contributing to it,as lacking the knowledge and skills can be a barrier to *** order to identify the nature of events that might have facilitated or hindered enrollments in the OpenStreetMap(OSM)project over time,we analyzed the correlations between the number of new participants and the events that dotted its *** different metrics were defined to characterize participants’behaviors:the daily number of registrations,the daily number of participants that made a first contribution,the delays between contributors’registration and their first edits,and a daily contribution ratio built from the number of new contributors and the number of new registered *** series analyses were used to identify trends,and outstanding variations of the number of *** inventory of events that took place along the OSM project’s history was created and appreciable variations of the metrics have been linked to events that seemed to be *** a correlation does not imply causality,many of the explanations these correlations suggest are supported by the results of other studies,either directly or *** instance,when considering the time participants spend as“lurker”,as well as on the nature of the contribution of early *** other cases,they suggest new explanations for the origin of the spam accounts that affect registration statistics,or the decline in the proportion of registered members who actually become contributors.

关键词： OpenStreetMap(OSM) contributors lurkers participation knowledge motivation

Visualizing perceived spatial data quality of 3D objects within virtual globes

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International Journal of Digital Earth 2014年第10期7卷 771-788页

作者： Krista Jones rodolphe Devillers Yvan Bedard Olaf Schroth Department of Geography Memorial University of NewfoundlandSt.John’sCanada Departement des sciences geomatiques Universite LavalQuebecCanada Department of Landscape The University of SheffieldSheffieldUK

Virtual globes(VGs)allow Internet users to view geographic data of heterogeneous quality created by other *** article presents a new approach for collecting and visualizing information about the perceived quality of 3D data in *** aims atimproving users’awareness of the qualityof 3D *** of relying onthe existing metadata or on formal accuracy assessments that are often impossible in practice,we propose a crowd-sourced quality recommender system based on the five-star visualization method successful in other types of Web *** alternative five-star visualizations were implemented in a Google Earth-based prototype and tested through a formal user *** tests helped identifying the most effective method for a 3D *** indicate that while most websites use a visualization approach that shows a‘number of stars’,this method was the least preferred by ***,participants ranked the‘number within a star’method highest as it allowed reducing the visual clutter in urban settings,suggesting that 3D environments such as VGs require different *** that expert and non-expert users in geographic data share similar preferences for the most and least preferred visualization methods.

关键词： virtual globes spatial data quality uncertainty quality recommender system five-star 3D objects

Redefining pandemic preparedness:Multidisciplinary insights from the CERP modelling workshop in infectious diseases,workshop report

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Infectious Disease Modelling 2024年第2期9卷 501-518页

作者： Marta C.Nunes Edward Thommes Holger Fröhlich Antoine Flahault Julien Arino Marc Baguelin Matthew Biggerstaff Gaston Bizel-Bizellot Rebecca Borchering Giacomo Cacciapaglia Simon Cauchemez Alex Barbier--Chebbah Carsten Claussen Christine Choirat Monica Cojocaru Catherine Commaille-Chapus Chitin Hon Jude Kong Nicolas Lambert Katharina B.Lauer Thorsten Lehr Cédric Mahe Vincent Marechal Adel Mebarki Seyed Moghadas Rene Niehus Lulla Opatowski Francesco Parino Gery Pruvost Andreas Schuppert rodolphe Thiébaut Andrea Thomas-Bachli Cecile Viboud Jianhong Wu Pascal Crépey PascalCrepey Center of Excellence in Respiratory Pathogens(CERP) Hospices Civils de Lyon(HCL)and Centre International de Recherche en Infectiologie(CIRI)Équipe SantéPubliqueÉpidémiologie etÉcologieÉvolutive des Maladies Infectieuses(PHE3ID)Inserm U1111CNRS UMR5308ENS de LyonUniversitéClaude Bernard Lyon 1LyonFrance South African Medical Research Council Vaccines&Infectious Diseases Analytics Research UnitFaculty of Health SciencesUniversity of the WitwatersrandJohannesburgSouth Africa New Products and Innovation(NPI) Sanofi Vaccines(Global)TorontoOntarioCanada Department of Mathematics and Statistics University of GuelphGuelphOntarioCanada Fraunhofer Institute for Algorithms and Scientific Computing(SCAI) Department of BioinformaticsSchloss BirlinghovenSankt AugustinGermany University of Bonn Bonn-Aachen International Center for IT(b-it)BonnGermany Institute of Global Health Faculty of MedicineUniversity of GenevaGenevaSwitzerland and Swiss School of Public HealthZürichSwitzerland Department of Mathematics University of ManitobaWinnipegManitobaCanada MRC Centre for Global Infectious Disease Analysis School of Public HealthImperial College LondonLondonUK Centre for Mathematical Modelling of Infectious Diseases Department of Infectious Disease EpidemiologyLondon School of Hygiene&Tropical MedicineLondonUK National Center for Immunization and Respiratory Diseases(NCIRD) US Centers for Disease Control and Prevention(CDC)AtlantaGAUSA Departement of Computational Biology Departement of Global HealthInstitut PasteurParisFrance Institut de Physique des Deux Infinis de Lyon(IP2I) UMR5822IN2P3/CNRSUniversitéClaude Bernard Lyon 1VilleurbanneFrance Mathematical Modelling of Infectious Diseases Unit Institut PasteurUniversitéParis CitéUMR2000 CNRSParisFrance Decision and Bayesian Computation Institut PasteurUniversitéParis CitéCNRS UMR 3571France Fraunhofer-Institute for Translational Medicine and Pharmacology HamburgGermany Institute of Global Health Faculty of MedicineUniversity of

In July 2023,the Center of Excellence in Respiratory Pathogens organized a two-day workshop on infectious diseases modelling and the lessons learnt from the Covid-19 *** report summarizes the rich discussions that occurred during the *** workshop participants discussed multisource data integration and highlighted the benefits of combining traditional surveillance with more novel data sources like mobility data,social media,and wastewater *** advancements were noted in the development of predictive models,with examples from various countries showcasing the use of machine learning and artificial intelligence in detecting and monitoring disease *** role of open collaboration between various stakeholders in modelling was stressed,advocating for the continuation of such partnerships beyond the pandemic.A major gap identified was the absence of a common international framework for data sharing,which is crucial for global pandemic ***,the workshop underscored the need for robust,adaptable modelling frameworks and the integration of different data sources and collaboration across sectors,as key elements in enhancing future pandemic response and preparedness.

关键词： Modelling Covid-19 Infectious diseases Pandemic preparedness Workshop

Persuasion, reflection, judgment

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Adsorption and desorption phenomena on thermally annealed multi-walled carbon nanotubes by XANES study

作者： rodolphe Gasche.

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Chinese Physics B 2019年第9期28卷 145-149页

作者： Camile rodolphe Tchenguem Kamto Bridinette Thiodjio Sendja Jeannot Mane Mane University of Yaounde Ⅰ Faculty of ScienceDepartment of PhysicsYaoundeCameroon University of Yaounde Ⅰ National Advanced School of EngineeringDepartment of Mathematic and Physical ScienceYaoundeCameroon University of Dschang DschangCameroon

The multi-walled carbon nanotubes(MWCNTs) studied in this work were synthesized by the catalytic chemical vapor deposition(CCVD) process, and were thermally annealed by the hot filament plasma enhanced(HF PE) method at 550℃ for two *** x-ray absorption near edge structure(XANES) technique was used to investigate the adsorption and desorption phenomena of the MWCNTs at normal and grazing incidence *** adsorbates were found to have different sensitivities to the thermal *** geometry of the incident beam consistently gave information about the adsorption and desorption *** addition, the adsorption of non-intrinsic potassium quantitatively affected the intrinsic adsorbates and contributed to increase the conductivity of the *** desorption of potassium was almost 70% greater after the thermal *** potassium non-intrinsic adsorbates are from a physisorption mechanism whereas the intrinsic adsorbates result from chemisorption.

关键词： multi-walled carbon nanotubes thermal annealing adsorption desorption

Selective laser melting(SLM)of CX stainless steel:Theoretical calculation,process optimization and strengthening mechanism

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Journal of Materials Science & Technology 2021年第14期73卷 151-164页

作者： Dongdong Dong Cheng Chang Hao Wang Xingchen Yan Wenyou Ma Min Liu Sihao Deng Julien Gardan rodolphe Bolot Hanlin Liao Guangdong Academy of Sciences Guangdong Institute of New MaterialsNational Engineering Laboratory for Modern Materials Surface Engineering TechnologyThe Key Lab of Guangdong for Modern Surface Engineering TechnologyGuangzhou510651China ICD-LASMIS UMR CNRS 6281University of Technology of Troyes12 rue Marie CurieCS 4206010004Troyes CedexFrance EPF Ecole d’ingenieurs2 rue Fernand SastreTroyesFrance ICB-PMDM UMR 6303 CNRSUniv.Bourgogne Franche-ComtéUBFCF-71200Le Creusot/UTBMF-71200.Le Creusot/UTBMF-90010BelfortFrance

In the present work,selective laser melting(SLM)technology was utilized for manufacturing CX stainless steel samples under a series of laser *** effect of laser linear energy density on the microstructure characteristics,phase distribution,crystallographic orientation and mechanical properties of these CX stainless steel samples were investigated theoretically and experimentally via scanning electron microscope(SEM),X-ray diffraction(XRD),electron backscatter diffraction(EBSD)and transmission electron microscope(TEM).Based on the systematic study,the SLM CX stainless steel sample with best surface roughness(Ra=4.05±1.8μm)and relative density(Rd=99.72%±0.22%)under the optimal linear density(η=245 J/m)can be *** CX stainless steel was primarily constituted by a large number of fine martensite(α’phase)structures(i.e.,cell structures,cellular dendrites and blocky grains)and a small quantity of austenite(γphase)*** pre ferred crystallographic orientation(i.e.,direction)can be determined in the XZ plane of the SLM CX ***,under the optimal linear energy density,the good combinations with the highest ultimate tensile strength(UTS=1068.0%±5.9%)and the best total elongation(TE=15.70%±0.26%)of the SLM CX sample can be *** strengthening dominates the strengthening mechanism of the SLM CX sample in as-built state.

关键词： Selective laser melting CX stainless steel Forming quality Mechanical property Strengthening Mechanism

Chiral supramolecular gold-cysteine nanoparticles: Chiroptical and nonlinear optical properties

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Progress in Natural Science:Materials International 2016年第5期26卷 455-460页

作者： Isabelle Russier-Antoine Franck Bertorelle Alexander Kulesza Antonin Soleilhac Amina Bensalah-Ledoux Stephan Guy Philippe Dugourd Pierre-Fran?ois Brevet rodolphe Antoine Univ Lyon Université Claude Bernard Lyon 1 CNRS Institut Lumière Matière

Cysteine is a sulfur-containing amino acid that easily coordinates to soft metal ions and grafts to noble metal surfaces. We report a simple synthetic approach for the production of chiral gold-cysteine polymeric nanoparticles soluble in water. Conjugation of cysteine with gold in a polymeric way, leading to;0 nm diameter nanoparticles, resulted in the generation of new characteristic circular dichroism（CD） signals in the region of 250–400 nm, whereas no CD signal changes were found with cysteine alone. We also investigate their nonlinear optical properties after two-photon absorption. Two-photon emission spectra and first hyperpolarizabilities, as obtained by the hyper-Rayleigh scattering technique, of these particles are presented.

关键词： Gold Cysteine Supramolecular chemistry Nanoparticles Chirality Nonlinear optics