Report
A unified data infrastructure to support large-scale rare disease research
| العنوان: | A unified data infrastructure to support large-scale rare disease research |
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| المؤلفون: | Johansson, Lennart F., Laurie, Steven, Spalding, Dylan, Gibson, Spencer, Ruvolo, David, Thomas, Coline, Piscia, Davide, de Andrade, Fernanda, Been, Gerieke, Bijlsma, Marieke, Brunner, Han, Cimerman, Sandi, Yavari Dizjikan, Farid, Ellwanger, Kornelia, Fernandez, Marcos, Freeberg, Mallory, van de Geijn, Gert-Jan, Kanninga, Roan, Maddi, Vatsalya, Medtarizadeh, Mehdi, Neerincx, Pieter, Ossowski, Stephan, Rath, Ana, Roelofs-Prins, Dieuwke, Stok-Benjamins, Marloes, van der Velde, K. Joeri, Veal, Colin, van der Vries, Gerben, Wadsley, Marc, Warren, Gregory, Zurek, Birte, Keane, Thomas, Graessner, Holm, MAY, Patrick, Solve-RD consortium, Beltran, Sergi, Swertz, Morris A., Brookes, Anthony J. |
| المساهمون: | Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) |
| سنة النشر: | 2023 |
| المجموعة: | University of Luxembourg: ORBilu - Open Repository and Bibliography |
| مصطلحات موضوعية: | Rare diseases, Solve-RD, Life sciences, Genetics & genetic processes, Human health sciences, General & internal medicine, Sciences du vivant, Génétique & processus génétiques, Sciences de la santé humaine, Médecine générale & interne |
| الوصف: | The Solve-RD project brings together clinicians, scientists, and patient representatives from 51 institutes spanning 15 countries to collaborate on genetically diagnosing ("solving") rare diseases (RDs). The project aims to significantly increase the diagnostic success rate by co-analysing data from thousands of RD cases, including phenotypes, pedigrees, exome/genome sequencing and multi-omics data. Here we report on the data infrastructure devised and created to support this co-analysis. This infrastructure enables users to store, find, connect, and analyse data and metadata in a collaborative manner. Pseudonymised phenotypic and raw experimental data are submitted to the RD-Connect Genome-Phenome Analysis Platform and processed through standardised pipelines. Resulting files and novel produced omics data are sent to the European Genome-phenome Archive, which adds unique file identifiers and provides long-term storage and controlled access services. MOLGENIS "RD3" and Cafe Variome "Discovery Nexus" connect data and metadata and offer discovery services, and secure cloud-based "Sandboxes" support multi-party data analysis. This proven infrastructure design provides a blueprint for other projects that need to analyse large amounts of heterogeneous data. ; 3. Good health and well-being |
| نوع الوثيقة: | report |
| اللغة: | English |
| Relation: | https://orbilu.uni.lu/handle/10993/59128; info:hdl:10993/59128; https://orbilu.uni.lu/bitstream/10993/59128/1/2023.12.20.23299950v1.full.pdf |
| DOI: | 10.1101/2023.12.20.23299950 |
| الاتاحة: | https://orbilu.uni.lu/handle/10993/59128 https://orbilu.uni.lu/bitstream/10993/59128/1/2023.12.20.23299950v1.full.pdf https://doi.org/10.1101/2023.12.20.23299950 |
| Rights: | open access ; http://purl.org/coar/access_right/c_abf2 ; info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.D9842628 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1101/2023.12.20.23299950 |
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