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Author Details

Jordi Rambla
Universitat Pompeu Fabra
2015
24
10
PMIDPaper TitleJournal TitlePublished Year
36520344Consent Codes: Maintaining Consent in an Ever-expanding Open Science Ecosystem.Neuroinformatics2023
37150779Data infrastructures for AI in medical imaging: a report on the experiences of five EU projects.Eur Radiol Exp2023
37196000Phenopacket-tools: Building and validating GA4GH Phenopackets.PLoS One2023
34791407The European Genome-phenome Archive in 2021.Nucleic Acids Res2022
35438138A quality control portal for sequencing data deposited at the European genome-phenome archive.Brief Bioinform2022
35980167Beacon v2 Reference Implementation: a toolkit to enable federated sharing of genomic and phenotypic data.Bioinformatics2022
35297548Beacon v2 and Beacon networks: A "lingua franca" for federated data discovery in biomedical genomics, and beyond.Hum Mutat2022
34820659The Data Use Ontology to streamline responsible access to human biomedical datasets.Cell Genom2021
33791701Freely accessible ready to use global infrastructure for SARS-CoV-2 monitoring.bioRxiv2021
33844299Inversions and genomic differentiation after secondary contact: When drift contributes to maintenance, not loss, of differentiation.Evolution2021
35128509International federation of genomic medicine databases using GA4GH standards.Cell Genom2021
35072136GA4GH: International policies and standards for data sharing across genomic research and healthcare.Cell Genom2021
34588690Ready-to-use public infrastructure for global SARS-CoV-2 monitoring.Nat Biotechnol2021
31393550Genome-phenome explorer (GePhEx): a tool for the visualization and interpretation of phenotypic relationships supported by genetic evidence.Bioinformatics2020
30894680Publisher Correction: Federated discovery and sharing of genomic data using Beacons.Nat Biotechnol2019
31520075Author Correction: Leveraging European infrastructures to access 1 million human genomes by 2022.Nat Rev Genet2019
31455890Leveraging European infrastructures to access 1 million human genomes by 2022.Nat Rev Genet2019
30069064Registered access: authorizing data access.Eur J Hum Genet2018
30020811FaST-LMM for Two-Way Epistasis Tests on High-Performance Clusters.J Comput Biol2018
29123641Systematically linking tranSMART, Galaxy and EGA for reusing human translational research data.F1000Res2017
26796797Consent Codes: Upholding Standard Data Use Conditions.PLoS Genet2016
28232859Integration of EGA secure data access into Galaxy.F1000Res2016
25977458Analysis of Five Gene Sets in Chimpanzees Suggests Decoupling between the Action of Selection on Protein-Coding and on Noncoding Elements.Genome Biol Evol2015
26111507The European Genome-phenome Archive of human data consented for biomedical research.Nat Genet2015
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Collaborators

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John D Spalding
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Michael Baudis
University of Zurich
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Gary Saunders
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Paul Flicek
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Serena Scollen
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Angela Page
Broad Institute
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Giselle Kerry
European Bioinformatics Institute
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Manuel Rueda
The Barcelona Institute of Science and Technology
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Jaap Heringa
VU University Amsterdam
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Juha T??rnroos
ELIXIR Finland CSC - IT Center for Science Ltd
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Ewan Birney
European Bioinformatics Institute
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Heidi L Rehm
The Broad Institute of MIT and Harvard
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Petr Holub
Institute of Computer Science, Masaryk University
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Michael Brudno
University of Toronto
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Anthony A Philippakis
Broad Institute of Harvard and the Massachusetts Institute of Technology
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Aina Jene
The Barcelona Institute of Science and Technology
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Alexander Senf
European Bioinformatics Institute (EMBL-EBI)
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Lyndon Zass
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