José Mª Fernández
SEEK ID: https://workflowhub.eu/people/110
Location:
Spain
Expertise: Not specified
Tools: Not specified
https://orcid.org/0000-0002-4806-5140
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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
Web page: https://www.eosc-life.eu/
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
Public web page: https://www.eosc-life.eu/services/demonstrators/
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
...
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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: Laura Rodriguez-Navas, José Mª Fernández
Submitter: Laura Rodriguez-Navas
