دورية أكاديمية
Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases
| العنوان: | Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases |
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| المؤلفون: | Alberto Corvò, Leslie Matalonga, Dylan Spalding, Alexander Senf, Steven Laurie, Daniel Picó-Amador, Marcos Fernandez-Callejo, Ida Paramonov, Anna Foix Romero, Emilio Garcia-Rios, Jorge Izquierdo Ciges, Anand Mohan, Coline Thomas, Andres Felipe Silva Valencia, Csaba Halmagyi, Mallory Ann Freeberg, Ana Töpf, Rita Horvath, Gary Saunders, Ivo Gut, Thomas Keane, Davide Piscia, Sergi Beltran |
| المصدر: | Cell Genomics, Vol 3, Iss 2, Pp 100246- (2023) |
| بيانات النشر: | Elsevier, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Genetics LCC:Internal medicine |
| مصطلحات موضوعية: | genome analysis, exome analysis, data sharing, data visualization, federated infrastructures, remote data access, Genetics, QH426-470, Internal medicine, RC31-1245 |
| الوصف: | Summary: The Solve-RD project objectives include solving undiagnosed rare diseases (RD) through collaborative research on shared genome-phenome datasets. The RD-Connect Genome-Phenome Analysis Platform (GPAP), for data collation and analysis, and the European Genome-Phenome Archive (EGA), for file storage, are two key components of the Solve-RD infrastructure. Clinical researchers can identify candidate genetic variants within the RD-Connect GPAP and, thanks to the developments presented here as part of joint ELIXIR activities, are able to remotely visualize the corresponding alignments stored at the EGA. The Global Alliance for Genomics and Health (GA4GH) htsget streaming application programming interface (API) is used to retrieve alignment slices, which are rendered by an integrated genome viewer (IGV) instance embedded in the GPAP. As a result, it is no longer necessary for over 11,000 datasets to download large alignment files to visualize them locally. This work highlights the advantages, from both the user and infrastructure perspectives, of implementing interoperability standards for establishing federated genomics data networks. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2666-979X |
| العلاقة: | http://www.sciencedirect.com/science/article/pii/S2666979X22002099Test; https://doaj.org/toc/2666-979XTest |
| DOI: | 10.1016/j.xgen.2022.100246 |
| الوصول الحر: | https://doaj.org/article/f9ee0f23dcd94c7889cc3f95ab5a3d8bTest |
| رقم الانضمام: | edsdoj.f9ee0f23dcd94c7889cc3f95ab5a3d8b |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 2666979X |
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| DOI: | 10.1016/j.xgen.2022.100246 |