An integrative analysis pipeline of genomic and transcriptomic human data for disentangling the genetic origin of a rare-disease in the context of the European Open Science Cloud.
Space: EOSC-Life
SEEK ID: https://workflowhub.eu/projects/31
Public web page: https://www.eosc-life.eu/services/demonstrators/
Organisms: No Organisms specified
WorkflowHub PALs: No PALs for this Team
Team created: 18th Feb 2021
Related items
Teams: GalaxyProject SARS-CoV-2, nf-core viralrecon, EOSC-Life - Demonstrator 7: Rare Diseases, iPC: individualizedPaediatricCure, EJPRD WP13 case-studies workflows, TransBioNet, OpenEBench, ELIXIR Proteomics
Organizations: Barcelona Supercomputing Center (BSC-CNS), ELIXIR

Expertise: Bioinformatics, Computer Science, AI, Machine Learning
Computer Engineer in Barcelona Supercomputing Center (BSC)
EOSC-Life brings together the 13 Life Science ‘ESFRI’ research infrastructures (LS RIs) to create an open, digital and collaborative space for biological and medical research.
The project will publish ‘FAIR’ data and a catalogue of services provided by participating RIs for the management, storage and reuse of data in the European Open Science Cloud (EOSC).
Teams: EOSC-Life - Demonstrator 7: Rare Diseases, EOSC-Life WP3
Web page: https://www.eosc-life.eu/
Rare disease researchers workflow is that they submit their raw data (fastq), run the mapping and variant calling RD-Connect pipeline and obtain unannotated gvcf files to further submit to the RD-Connect GPAP or analyse on their own.
This demonstrator focuses on the variant calling pipeline. The raw genomic data is processed using the RD-Connect pipeline (Laurie et al., 2016) running on the standards (GA4GH) compliant, interoperable container ...
Rare disease researchers workflow is that they submit their raw data (fastq), run the mapping and variant calling RD-Connect pipeline and obtain unannotated gvcf files to further submit to the RD-Connect GPAP or analyse on their own.
This demonstrator focuses on the variant calling pipeline. The raw genomic data is processed using the RD-Connect pipeline (Laurie et al., 2016) running on the standards (GA4GH) compliant, interoperable container ...
Type: Common Workflow Language
Creators: José Mª Fernández, Laura Rodriguez-Navas
Submitter: Laura Rodriguez-Navas