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Sökning: WFRF:(Mathews C) > Kungliga Tekniska Högskolan

  • Resultat 1-3 av 3
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1.
  • Brownstein, Catherine A., et al. (författare)
  • An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
  • 2014
  • Ingår i: Genome Biology. - : Springer Science and Business Media LLC. - 1465-6906 .- 1474-760X. ; 15:3, s. R53-
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data generation, analysis, interpretation and reporting. The CLARITY Challenge was designed to spur convergence in methods for diagnosing genetic disease starting from clinical case history and genome sequencing data. DNA samples were obtained from three families with heritable genetic disorders and genomic sequence data were donated by sequencing platform vendors. The challenge was to analyze and interpret these data with the goals of identifying disease-causing variants and reporting the findings in a clinically useful format. Participating contestant groups were solicited broadly, and an independent panel of judges evaluated their performance. Results: A total of 30 international groups were engaged. The entries reveal a general convergence of practices on most elements of the analysis and interpretation process. However, even given this commonality of approach, only two groups identified the consensus candidate variants in all disease cases, demonstrating a need for consistent fine-tuning of the generally accepted methods. There was greater diversity of the final clinical report content and in the patient consenting process, demonstrating that these areas require additional exploration and standardization. Conclusions: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases. There is remarkable convergence in bioinformatic techniques, but medical interpretation and reporting are areas that require further development by many groups.
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2.
  • Lerche, E., et al. (författare)
  • Optimization of ICRH for core impurity control in JET-ILW
  • 2016
  • Ingår i: Nuclear Fusion. - JET, Culham Sci Ctr, EUROfus Consortium, Abingdon OX14 3DB, Oxon, England. [Lerche, E.; Van Eester, D.; Crombe, K.; Kazakov, Y.; Krivska, A.; Ongena, J.] TEC Partner, Assoc EUROFUS Belgian State, LPP ERM KMS, Brussels, Belgium. [Lerche, E.; Jacquet, P.; Giroud, C.; Monakhov, I.; Casson, F. J.; Rimini, F.; Blackman, T.; Brix, M.; Challis, C.; Graham, M.; Kiptily, V.; Lennholm, M.; Lomas, P.; Maggi, C.; Mathews, G.; Mayoral, M. -L.; Santala, M.; Shaw, A.; Stamp, M.] Euratom CCFE Fus Assoc, Culham Sci Ctr, Abingdon, Oxon, England. [Goniche, M.; Colas, L.; Fedorczak, N.; Joffrin, E.; Monier-Garbet, P.] Assoc EUROFUS CEA, IRFM, St Paul Les Durance, France. [Bobkov, V.; Angioni, C.; Hobirk, J.; Puetterich, T.; Reich, M.] EUROFUS Assoziat, Max Planck Inst Plasmaphys, Garching, Germany. [Baruzzo, M.] EUROFUS ENEA Assoc, Consorzio RFX, Padua, Italy. [Brezinsek, S.] TEC Partner, EUROFUS Assoziat, Forschungszentrum Juelich, Julich, Germany. [Czarnecka, A.] EUROFUS Assoc, IPPLM, Warsaw, Poland. [Eriksson, J.] Uppsala Univ, Dept Phys & Astron, Assoc EUROFUS VR, Uppsala, Sweden. [Graves, J. P.] Assoc EUROFUS Confederat Suisse, CRPP EPFL, Lausanne, Switzerland. [Gorini, G.; Mantica, P.; Nocente, M.; Tardocchi, M.; Valisa, M.] EUROFUS ENEA CNR Assoc, Inst Fis Plasma, Milan, Italy. [Johnson, T.] KTH, EES, Fus Plasma Phys, Assoc EUROFUS VR, Stockholm, Sweden. [Meneses, L.; Nave, M. F.; Nunes, I.] EUROFUS IST Assoc, Inst Plasmas & Fusao Nucl, Lisbon, Portugal. [Mlynar, J.; Petrzilka, V.] EUROFUS IPP CR Assoc, Inst Plasma Phys, Prague, Czech Republic. [Petravich, G.] EUROFUS Assoc, MTA Wigner FK RMI, Budapest, Hungary. [Solano, E. R.] EUROFUS Assoc, LNF CIEMAT, Madrid, Spain. [Solano, E. R.] Culham Sci Ctr, EUROfus PMU, Abingdon OX14 3DB, Oxon, England. [Sips, G.] Culham Sci Ctr, JET Exploitat Unit, Abingdon OX14 3DB, Oxon, England. [Tsalas, M.] EUROFUS Assoc, FOM Inst DIFFER, Nieuwegein, Netherlands. : Institute of Physics (IOP). - 0029-5515 .- 1741-4326. ; 56:3
  • Tidskriftsartikel (refereegranskat)abstract
    • Ion cyclotron resonance frequency (ICRF) heating has been an essential component in the development of high power H-mode scenarios in the Jet European Torus ITER-like wall (JET-ILW). The ICRF performance was improved by enhancing the antenna-plasma coupling with dedicated main chamber gas injection, including the preliminary minimization of RF-induced plasma-wall interactions, while the RF heating scenarios where optimized for core impurity screening in terms of the ion cyclotron resonance position and the minority hydrogen concentration. The impact of ICRF heating on core impurity content in a variety of 2.5 MA JET-ILW H-mode plasmas will be presented, and the steps that were taken for optimizing ICRF heating in these experiments will be reviewed.
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3.
  • Mathews, M. V., et al. (författare)
  • A marriage of the Director Musices program and the conductor program
  • 2003
  • Ingår i: Proceedings of the Stockholm Music Acoustics Conference, August 6-9, 2003 (SMAC 03), Stockholm, Sweden. ; , s. 13-16
  • Konferensbidrag (refereegranskat)abstract
    • This paper will describe an ongoing collaboration between the authors to combine the Director Musices and Conductor programs in order to achieve a more expressive and socially interactive performance of a midi file score by an electronic orchestra. Director Musices processes a “square” midi file, adjusting the dynamics and timing of the notes to achieve the expressive performance of a trained musician. The Conductor program and the Radio-baton allow a conductor, wielding an electronic baton, to follow and synchronize with other musicians, for example to provide an orchestral accompaniment to an operatic singer. These programs may be particularly useful for student soloists who wish to practice concertos with orchestral accompaniments. 
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