154 research outputs found
Des reprises aux compositions originales
Ă partir de la seconde moitiĂ© du xxe siĂšcle, les musiques populaires amĂ©ricaines ont principalement Ă©tĂ© mĂ©diatisĂ©es suivant un principe consistant Ă identifier un titre Ă son interprĂšte (plus quâĂ son compositeur, bien que les deux soient frĂ©quemment une mĂȘme personne). Or, cette « norme communicationnelle » nâa pas toujours prĂ©valu : lâhistoire nous enseigne en effet que les musiques populaires ont initialement Ă©tĂ© diffusĂ©es par les media sonores selon le « rĂ©gime » de la reprise : un mĂȘme titre faisait ainsi lâobjet dâune multitude dâinterprĂ©tations mĂ©diatisĂ©es par les phonogrammes ou la radiodiffusion, prolongeant en cela une pratique dominante dans le monde de la musique jouĂ©e « en direct ». Pour Ă©clairer les facteurs par lesquels cette mutation sâest opĂ©rĂ©e, nous nous sommes focalisĂ© Ă la fois sur les pratiques des acteurs de ce monde (musiciens, Ă©diteurs musicaux et phonographiques, programmateurs radiophoniques, etc.) et sur leur environnement institutionnel que manifeste, en premier lieu, le dispositif du copyright. Par cette double attention, il sâest agi de mettre en Ă©vidence dâune part la pluralitĂ© des actions qui participent de la construction et de la stabilisation ou de lâabandon progressif de ces normes et, dâautre part, dâapprĂ©cier la portĂ©e du cadre rĂ©glementaire sur ces mĂȘmes actions : loin dâĂȘtre uniquement le fait des musiciens, les normes de communication de la musique mĂ©diatisĂ©e rĂ©pondent Ă une multitude de pratiques et dâenjeux disparates que conditionne, plus que ne prescrit, la loi sur la propriĂ©tĂ© des Ćuvres
John Seabrook, Hits ! EnquĂȘte sur la fabrique des tubes planĂ©taires
PubliĂ© avec le concours de la revue Audimat, cet ouvrage est la traduction française dâune enquĂȘte au long cours menĂ©e par John Seabrook, journaliste au New Yorker. Ce travail, plus journalistique quâacadĂ©mique donc, vise Ă prĂ©senter ce que lâauteur dĂ©signe par « la fabrique » [the factory] de la pop mainstream. Il prĂ©sente ainsi en dĂ©tail lâorganisation de type industriel qui sâimpose dans la phase de production artistique des principaux hits mondiaux. Lâauteur nous donne Ă voir un monde art..
Guillaume Heuguet, YouTube et les métamorphoses de la musique
Lâambition de la recherche doctorale de Guillaume Heuguet qui a donnĂ© lieu Ă cet ouvrage paru aux Ă©ditions de lâINA est double : il sâagit Ă la fois dâĂ©clairer le rĂŽle moteur de la musique dans lâimmense succĂšs de la plateforme YouTube et, en retour, de mettre en Ă©vidence les adaptations dâune industrie phonographique sĂ©culaire aux conditions nouvelles de la diffusion. Câest donc un double mouvement de transformation qui est au cĆur de lâinvestigation : les mutations dâun « dispositif numĂ©riq..
Dailymotion : le devenir mĂ©dia dâune plateforme. Analyse dâune trajectoire sĂ©mio-Ă©conomique (2005-2018)
Longtemps positionnĂ© comme le pendant français de YouTube, Dailymotion sâest reconverti, Ă la suite de son rachat par Vivendi en 2015, en un hĂ©bergeur de vidĂ©os Ă destination principalement dâautres industries mĂ©diatiques. Ce faisant, il a abandonnĂ© une grande partie des spĂ©cificitĂ©s sĂ©mio-techniques et organisationnelles qui avaient fait son succĂšs pour se conformer Ă un fonctionnement mĂ©diatique plus « traditionnel ». Ă partir de ce constat, cet article a une triple ambition : tout dâabord, retracer la « trajectoire » tout Ă la fois Ă©conomique et sĂ©miologique de lâentreprise par une analyse croisĂ©e de ses stratĂ©gies industrielles et des processus de sĂ©lection de contenus et dâĂ©ditorialisation quâelle met en Ćuvre ; ensuite, dĂ©finir un modĂšle que nous avons qualifiĂ© de « plateforme » et Ă lâaune duquel seront apprĂ©ciĂ©s les changements dâorientation dans son activitĂ© de mĂ©diatisation et dans la valorisation de celle-ci ; enfin, chercher, au travers de cette Ă©tude, Ă proposer des Ă©lĂ©ments, mĂ©thodologiques et thĂ©oriques, Ă mĂȘme de favoriser la comprĂ©hension de lâhistoricitĂ© des agencements mĂ©diatiques, de leur plasticitĂ© et de leur hybridation.Long positioned as the French counterpart of YouTube, Dailymotion repurposed itself primarily as a video hosting service for other media industries following its acquisition by Vivendi in 2015. In doing so, it abandoned many of its distinctive semio-technical and organizational features to conform to a more âtraditionalâ media operation. Starting from this observation, this article has three goals: first, it retraces the companyâs economic and semiological âtrajectory,â juxtaposing analyses of its industrial strategies and its content selection and editorialization processes. It then defines a âplatformâ model from which to evaluate changes of orientation in its mediatization activity and its value creation. Finally, this study proposes methodological and theoretical elements with which to better understand the historicity of media arrangements, their plasticity and their hybridization.Considerada como la alternativa francesa a YouTube, Dailymotion se ha convertido, tras su adquisiciĂłn por Vivendi en 2015, en un almacĂ©n de videos destinados principalmente a otras industrias de contenidos. Al hacerlo, abandonĂł gran parte de las caracterĂsticas semio-tĂ©cnicas y organizativas sobre las que habĂa basado su Ă©xito para adecuarse a un modo de funcionamiento mĂĄs âtradicionalâ. A partir de esta observaciĂłn, este artĂculo tiene una triple ambiciĂłn: en primer lugar, se trata de retrazar la âtrayectoriaâ, a la vez econĂłmica y semiolĂłgica, de la empresa, mediante un anĂĄlisis cruzado de su estrategia industrial y del proceso de selecciĂłn de contenidos y de editorializaciĂłn que implementa. Posteriormente, se define un modelo que hemos caracterizado como una âplataformaâ y sobre el cual se analizan los cambios de orientaciĂłn en su actividad de mediatizaciĂłn y de su puesta en valor. Finalmente, este estudio propone varios elementos, metodolĂłgicos y teĂłricos, que ayudan a la comprensiĂłn de la historicidad de los medios, de su plasticidad y de su carĂĄcter hĂbrido
Les industries culturelles Ă la conquĂȘte des plateformes ?
Depuis quelques annĂ©es, commentateurs, experts, associations professionnelles et politiques se sont publiquement et ostentatoirement Ă©levĂ©s contre lâhĂ©gĂ©monie annoncĂ©e des GAFAM (Google, Apple, Facebook, Amazon, Microsoft) sur les industries culturelles. Selon cette perspective, ces plateformes apparaissent comme le « cheval de Troie » grĂące auquel les industries de la communication (informatique, tĂ©lĂ©communications, web) seraient appelĂ©es Ă dĂ©finitivement dominer la production symbolique. La..
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.
For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient's data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300 clinicians, scientists, and patient representatives of 51 sites from 15 countries. Solve-RD is built upon a core group of four European Reference Networks (ERNs; ERN-ITHACA, ERN-RND, ERN-Euro NMD, ERN-GENTURIS) which annually see more than 270,000 RD patients with respective pathologies. The main ambition is to solve unsolved rare diseases for which a molecular cause is not yet known. This is achieved through an innovative clinical research environment that introduces novel ways to organise expertise and data. Two major approaches are being pursued (i) massive data re-analysis of >19,000 unsolved rare disease patients and (ii) novel combined -omics approaches. The minimum requirement to be eligible for the analysis activities is an inconclusive exome that can be shared with controlled access. The first preliminary data re-analysis has already diagnosed 255 cases form 8393 exomes/genome datasets. This unprecedented degree of collaboration focused on sharing of data and expertise shall identify many new disease genes and enable diagnosis of many so far undiagnosed patients from all over Europe
Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Funder: Durch Princess Beatrix Muscle Fund Durch Speeren voor Spieren Muscle FundFunder: University of TĂŒbingen Medical Faculty PATE programFunder: European Reference Network for Rare Neurological Diseases | 739510Funder: European Joint Program on Rare Diseases (EJP-RD COFUND-EJP) | 44140962
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
Background Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single-nucleotide (SNVs) and copy number variants (CNVs). Here we compared the ability to obtain comprehensive exome coverage for recent exome capture kits and genome sequencing techniques. Results We compared three different widely used enrichment kits (Agilent SureSelect Human All Exon V5, Agilent SureSelect Human All Exon V7 and Twist Bioscience) as well as short-read and long-read WGS. We show that the Twist exome capture significantly improves complete coverage and coverage uniformity across coding regions compared to other exome capture kits. Twist performance is comparable to that of both short- and long-read whole genome sequencing. Additionally, we show that even at a reduced average coverage of 70à there is only minimal loss in sensitivity for SNV and CNV detection. Conclusion We conclude that exome sequencing with Twist represents a significant improvement and could be performed at lower sequence coverage compared to other exome capture techniques
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Funder: EC | EC Seventh Framework Programm | FP7 Health (FP7-HEALTH - Specific Programme "Cooperation": Health); doi: https://doi.org/10.13039/100011272; Grant(s): 305444, 305444Funder: Ministerio de EconomĂa y Competitividad (Ministry of Economy and Competitiveness); doi: https://doi.org/10.13039/501100003329Funder: Generalitat de Catalunya (Government of Catalonia); doi: https://doi.org/10.13039/501100002809Funder: EC | European Regional Development Fund (Europski Fond za Regionalni Razvoj); doi: https://doi.org/10.13039/501100008530Funder: Instituto Nacional de BioinformĂĄtica ELIXIR Implementation Studies Centro de Excelencia Severo OchoaFunder: EC | EC Seventh Framework Programm | FP7 Health (FP7-HEALTH - Specific Programme "Cooperation": Health)Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine implementation in research and clinical environments. The Solve-RD project aims to reveal the molecular causes underlying undiagnosed rare diseases. One of the goals is to implement innovative approaches to reanalyse the exomes and genomes from thousands of well-studied undiagnosed cases. The raw genomic data is submitted to Solve-RD through the RD-Connect Genome-Phenome Analysis Platform (GPAP) together with standardised phenotypic and pedigree data. We have developed a programmatic workflow to reanalyse genome-phenome data. It uses the RD-Connect GPAP's Application Programming Interface (API) and relies on the big-data technologies upon which the system is built. We have applied the workflow to prioritise rare known pathogenic variants from 4411 undiagnosed cases. The queries returned an average of 1.45 variants per case, which first were evaluated in bulk by a panel of disease experts and afterwards specifically by the submitter of each case. A total of 120 index cases (21.2% of prioritised cases, 2.7% of all exome/genome-negative samples) have already been solved, with others being under investigation. The implementation of solutions as the one described here provide the technical framework to enable periodic case-level data re-evaluation in clinical settings, as recommended by the American College of Medical Genetics
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
Purpose
Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the âClinVar low-hanging fruitâ reanalysis, reasons for the failure of previous analyses, and lessons learned.
Methods
Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted.
Results
We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency).
Conclusion
The âClinVar low-hanging fruitâ analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock
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