José Mª Fernández
SEEK ID: https://workflowhub.eu/people/110
Locations:
Spain
, Not specified
ORCID:
https://orcid.org/0000-0002-4806-5140
Joined: 5th Mar 2021
Expertise: Not specified
Tools: Not specified
Team roles
Project administrator
Their tagsEOSC-Life - Demonstrator 7: Rare Diseases (Barcelona Supercomputing Center (BSC-CNS)) ; iPC: individualizedPaediatricCure (Barcelona Supercomputing Center (BSC-CNS)) ; EJPRD WP13 case-studies workflows (EJP-RD) ; TransBioNet (Barcelona Supercomputing Center (BSC-CNS)) ; OpenEBench (Barcelona Supercomputing Center (BSC-CNS))
Related items
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/
A space managed by WorkflowHub administrators for teams that don't want/need to manage their own space.
Teams: IBISBA Workflows, NMR Workflow, UNLOCK, NanoGalaxy, Galaxy Climate, PNDB, IMBforge, COVID-19 PubSeq: Public SARS-CoV-2 Sequence Resource, LBI-RUD, Nick-test-team, usegalaxy-eu, Italy-Covid-data-Portal, UX trial team, Integrated and Urban Plant Pathology Laboratory, SARS-CoV-2 Data Hubs, lmjxteam2, virAnnot pipeline, Ay Lab, iPC: individualizedPaediatricCure, Harkany Lab, Genomics Coordination Center, EJPRD WP13 case-studies workflows, Common Workflow Language (CWL) community, Testing, SeBiMER, IAA-CSIC, MAB - ATGC, Probabilistic graphical models, GenX, Snakemake-Workflows, ODA, IPK BIT, CO2MICS Lab, FAME, CHU Limoges - UF9481 Bioinformatique / CNR Herpesvirus, Quadram Institute Bioscience - Bioinformatics, HecatombDevelopment, Institute of Human Genetics, Testing RO Crates, Test Team, Applied Computational Biology at IEG/HMGU, INFRAFRONTIER workflows, OME, TransBioNet, OpenEBench, Galaxycompchem, Bioinformatics and Biostatistics (BIO2 ) Core, VIB Bioinformatics Core, CRC Cohort, ICAN, MustafaVoh, Single Cell Unit, CO-Graph, emo-bon, TestEMBL-EBIOntology, CINECA, Toxicology community, Pitagora-Network, Workflows Australia, Medizinisches Proteom-Center, Medical Bioinformatics, AGRF BIO, EU-Openscreen, X-omics, ELIXIR Belgium, URGI, Size Inc, GA-VirReport Team, The Boucher Lab, Cluster Emergent del Cervell Humà, Air Quality Prediction, pyiron, CAPSID, Edinburgh Genomics, Defragmentation TS
Web page: Not specified
EJPRD WP13 case-studies workflows from phase 1.
Space: Independent Teams
Public web page: https://www.ejprarediseases.org/
TransBioNet is the Translational Bioinformatics Network impulsed and coordinated by the Spanish National Bioinformatics Institute (INB) as a reference network of 35+ bioinformatics support units working at health care settings including Health Research Institutes (IIS) certified by the Carlos III Health Institute (ISCIII), and bioinformatics core facilities from biomedical research institutions. TransBioNet is an Excellence Thematic Network (Red de Excelencia Temática) recognized by the Spanish ...
Space: Independent Teams
Public web page: https://inb-elixir.es/transbionet
OpenEBench (https://openebench.bsc.es) is the ELIXIR benchmarking and technical monitoring platform for bioinformatics tools, web servers, and workflows. OpenEBench is part of the ELIXIR Tools platform and its development is led by the Barcelona Supercomputing Center (BSC) in collaboration with partners within ELIXIR and beyond.
Within the ELIXIR project, OpenEBench is being developed under the Tools Platform at the Work Package 2 (WP2: Benchmarking) (https://elixir-europe.org/platforms/tools). ...
Space: Independent Teams
Public web page: https://openebench.bsc.es
Space: Independent Teams
Public web page: https://ipc-project.eu/
Start date: 1st Jan 2019
End date: 31st May 2023
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/
Description
The workflow takes an input file with Cancer Driver Genes predictions (i.e. the results provided by a participant), computes a set of metrics, and compares them against the data currently stored in OpenEBench within the TCGA community. Two assessment metrics are provided for that predictions. Also, some plots (which are optional) that allow to visualize the performance of the tool are generated. The workflow consists in three standard steps, defined by OpenEBench. The tools needed ...
Type: Nextflow
Creators: José Mª Fernández, Asier Gonzalez-Uriarte, Javier Garrayo-Ventas
Submitter: Laura Rodriguez-Navas
DownloadRare 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 ...
COnSensus Interaction Network InFErence Service
Inference framework for reconstructing networks using a consensus approach between multiple methods and data sources.
Reference
[Manica, Matteo, Charlotte, Bunne, Roland, Mathis, Joris, Cadow, Mehmet Eren, Ahsen, Gustavo A, Stolovitzky, and María Rodríguez, Martínez. "COSIFER: a python package for the consensus inference of molecular ...
COnSensus Interaction Network InFErence Service
Inference framework for reconstructing networks using a consensus approach between multiple methods and data sources.
Reference
[Manica, Matteo, Charlotte, Bunne, Roland, Mathis, Joris, Cadow, Mehmet Eren, Ahsen, Gustavo A, Stolovitzky, and María Rodríguez, Martínez. "COSIFER: a python package for the consensus inference of molecular ...
Type: Common Workflow Language
Creators: Laura Rodriguez-Navas, José Mª Fernández
Submitter: Laura Rodriguez-Navas
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
