CINECA GDPR and FAIR compliant Diagnostic Services D5.3

Autor: Johansson, Lennart, Been, Gerieke, Michie, Alex, Binsl, Thomas

D5.3 demonstrates tying together the technical ideas and research developed in CINECA into accessible, end-user applications - removing the need to have deep technical understanding of the various components. In this case the tools are applied to ide

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a00e396e21f9b42fe4f8c4a07f90a7f

An interconnected data infrastructure to support large-scale rare disease research.

Autor: Johansson LF; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., Laurie S; Centro Nacional de Análisis Genómico, C/Baldiri Reixac 4, 08028, Barcelona, Spain.; Universitat de Barcelona (UB), Gran Via de les Corts Catalanes, 585, L'Eixample, 08007, Barcelona, Spain., Spalding D; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CV10 1SD, UK., Gibson S; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, University Road, Leicester, Leicester, LE1 7RH, UK., Ruvolo D; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., Thomas C; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CV10 1SD, UK., Piscia D; Centro Nacional de Análisis Genómico, C/Baldiri Reixac 4, 08028, Barcelona, Spain.; Universitat de Barcelona (UB), Gran Via de les Corts Catalanes, 585, L'Eixample, 08007, Barcelona, Spain., de Andrade F; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., Been G; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., Bijlsma M; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., Brunner H; Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, Nijmegen, 6525 GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O.Box 9103, Nijmegen, 6500 HD, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre, P. Debyelaan 25, Maastricht, 6229 HX, The Netherlands., Cimerman S; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., Dizjikan FY; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, University Road, Leicester, Leicester, LE1 7RH, UK., Ellwanger K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstraße 7, Tübingen 72076, Germany., Fernandez M; Centro Nacional de Análisis Genómico, C/Baldiri Reixac 4, 08028, Barcelona, Spain.; Universitat de Barcelona (UB), Gran Via de les Corts Catalanes, 585, L'Eixample, 08007, Barcelona, Spain., Freeberg M; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CV10 1SD, UK., van de Geijn GJ; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., Kanninga R; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., Maddi V; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, University Road, Leicester, Leicester, LE1 7RH, UK., Mehtarizadeh M; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, University Road, Leicester, Leicester, LE1 7RH, UK., Neerincx P; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstraße 7, Tübingen 72076, Germany.; Institute for Bioinformatics and Medical Informatics (IBMI), University of Tübingen, Geschwister-Scholl-Platz, Tübingen 72074, Germany., Rath A; INSERM, US-14 Orphanet, 96 rue Didot, Paris 75014, France., Roelofs-Prins D; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., Stok-Benjamins M; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., van der Velde KJ; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., Veal C; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, University Road, Leicester, Leicester, LE1 7RH, UK., van der Vries G; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., Wadsley M; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, University Road, Leicester, Leicester, LE1 7RH, UK., Warren G; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, University Road, Leicester, Leicester, LE1 7RH, UK., Zurek B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstraße 7, Tübingen 72076, Germany., Keane T; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CV10 1SD, UK., Graessner H; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstraße 7, Tübingen 72076, Germany.; Centre for Rare Diseases, University of Tübingen, Geschäftsstelle Eisenbahnstraße 63, Tübingen 72072, Germany., Beltran S; Centro Nacional de Análisis Genómico, C/Baldiri Reixac 4, 08028, Barcelona, Spain.; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Diagonal, 643, 08028, Barcelona, Spain., Swertz MA; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., Brookes AJ; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, University Road, Leicester, Leicester, LE1 7RH, UK.

Publikováno v: GigaScience [Gigascience] 2024 Jan 02; Vol. 13.