Identity management – life sciences perspective Ugis Sarkans European Bioinformatics Institute

2 European Bioinformatics Institute Outstation of the European Molecular Biology Laboratory International organisation created by treaty (cf CERN, ESA) EMBL-EBI has 400 Staff, €30 Million Budget, several million users 15 year history of service provision and scientific excellence Sited at the Wellcome Trust Genome Campus Hinxton, Cambridge, UK after European competition 2008 funding sources

3 To provide freely available data and bioinformatics services to all facets of the scientific community in ways that promote scientific progress To contribute to the advancement of biology through basic investigator-driven research in bioinformatics To provide advanced bioinformatics training to scientists at all levels, from PhD students to independent investigators To help disseminate cutting-edge technologies to industry EMBL-EBI Mission

4 Life sciences Medicine Agriculture Pharmaceuticals Biotechnology Environment Bio-fuels Cosmaceuticals Neutraceuticals Consumer products Personal genomes Etc… Comprehensive, universal, integrated…

Challenges facing information infrastructure for life sciences The growth of biomedical data is faster than the Moore's law Data generated in geographically distributed manner, but needs to be tightly integrated for interpretation Data analysis algorithms need to be applied to combined datasets on raw data level Human research subject data (clinical data) needs to be integrated with bio-molecular data raising the privacy issues and need for highly controlled access The data analysis algorithms are becoming more compute intensive – the need for parallelisation

Dynamic growth response Log(data volume) Time Available disk space

Dynamic growth response Log(data volume) Time Data to be stored Available disk space

Dynamic growth response No response External disk contribution One-off reduction Increasing reduction Combined responses Disk partnership Data to be stored Available disk space

9 What is Elixir? An EU Framework 7 Preparatory Phase Project Coordinated by Prof Janet Thornton, Director EMBL-EBI To construct a plan for the operation of a sustainable infrastructure for biological information in Europe €4.5 million grant awarded May 2007, three year term 32 member consortium engaging many of Europe’s main bioinformatics funding agencies and research institutes Deliverables are memoranda of understanding to fund the implementation phase which could cost €500 million Interested parties should register as stake-holders via the ELIXIR Website:

10 ESFRI The European Strategy Forum on Research Infrastructures Created by the Commission in February 2002 Adopted by the Competitiveness Council in April 2002 Representatives of EU Member States, Associated States, and one representative of the European Commission. Chairman: Prof Carlo Rizzuto (Sincrotrone Trieste S.c.p.A.- ELETTRA, IT) To support a coherent approach to policy-making on research infrastructures in Europe To act as an incubator for international negotiations about concrete initiatives

11 European Roadmap for Research Infrastructures 35 ‘mature’ projects for new large scale Research Infrastructures Based on an international peer review process Covers all scientific areas, regardless of possible location Likely to be realized in the next 10 to 20 years Supported by a relevant European partnership or intergovernmental research organisation. Impact on science and technology development at international level Support new ways of doing science in Europe Contribute to the enhancement of the European Research Area

12 Roadmap projects summary. 6 Social Science & Humanities 8 Environmental Sciences 3 Energy 6 Biomedical and Life Sciences 7 Material Sciences 5 Astronomy, Astro-, Nuclear and Particle Physics 1 Computer and Data Treatment (transverse)

13 Cost of 35 Mature ESFRI RI Projects Physics £3,600 Materials £4,500 Energy £2,200 Biomedical £1,600 Environment £1,300 Computing £300M Social Science Total Capital Cost = €13,696 Million

The ten ESFRI BMS RI 14

15 ELIXIR Scientific & Technical Structure

16 BMS Support of the European Grand Challenges ELIXIR will provide Infrastructure for the other ESFRI BMS RI.

17 BioMedBridges Call 8 (Research) Topic “Clustering the ESFRI BMS.” Coordinated by Janet Thornton To create the links between the ESFRI BMS RI €10.6M over 4 years, 21 participating organisations, 12 WP To “build bridges” between the infrastructures Deliverables are infrastructure components that will link data from the different domains of the ESFRI BMS RI to ELIXIR Core Datasets It is anticipated that these components will be incorporated into ELIXIR Construction Phase ESFRI BMS RIs will be doing the work e-Infrastructure Advisory Panel: GÉANT, DANTE, EGI.eu, PRACE

18 BioMedBridges Structure of Proposal WP1 Management WP2 Outreach and inreach WP3 ESFRI BMS Standards Description and Harmonization WP4 Technical integration WP5 Secure access Five Use Cases WP6 – WP12 – WP6 Interoperability of large scale image data sets from different biological scales – WP7 PhenoBridge - crossing the species bridge between mouse and human – WP8 Personalized Medicine - integrating complex data sets to understand disease pathogenesis and improve biomarker and treatment selection – WP9 From cells to molecules - integrating structural data – WP10 Integrating disease related data and terminology from samples of different types WP11 Technology Watch WP12 Training

20 EMBL-EBI: Most important data collections Genomes & Genes 1.Ensembl: Joint project with Sanger Institute - high-quality annotation of vertebrate genomes 2.Ensembl Genomes: Environment for genome data from other taxons Genomes: Catalogue of human variation from major World populations 4.EGA*: European Genotype Archive* – genotype, phenotype and sequences from individual subjects and controls 5.ENA: European Nucleotide Archive – all DNA & RNA, nextgen reads and traces Transcription 6.ArrayExpress: Archive of transcriptomics and other functional genomics data 7.Expression Atlas: Differentially expressed genes in tissues, cells, disease states & treatments Protein 8.UniProt: Archive of protein sequences and functional annotation 9.InterPro: Integrated resource for protein families, motifs and domains 10.PRIDE: Public data repository for proteomics data 11.PDBe: Protein and other macromolecular structure and function Small molecules 12.ChEBI: Chemical entities of biological interest 13.ChEMBL: Bioactive compounds, drugs and drug-like molecules, properties and activities Processes 14.IntAct: Public repository for molecular interaction data 15.Reactome: Biochemical pathways and reactions in human biology 16.Biomodels: Mathematical models of cellular processes Ontologies 17.GO: Gene Ontology, consistent descriptions of gene products Scientific literature 18.CiteXplor: Bibliographic query system * Requires authentication

reviewer author submitted manuscript published manuscript restricted data public data Data supporting publication – typical lifecycle

European Genome-phenome Archive (EGA) Primary archive for any data consented for research but not for fully public distribution all data must be de-identified and in accordance with the informed consent. Controlled access to the data distributed access policy: Data Access Committee (DAC) data release policy – data access application and data access agreement EGA supports only data access decisions that are based on the original informed consent authorized users have personal accounts in our system access to the data requires account password data decryption requires a separate key that must be requested and is sent off line 22HSF

EGA works with Data Access Committees (DAC) 23HSF

Authentication of FTP clients is inherently insecure; we may have to require FTPS compliant clients (RFC 4217)RFC 4217 Secure Server EGA provides archival encryption key and ile path in the archive. This requires a secure API to facilitate access into the EGA master database EGA secure layer (3) EGA secure layer FTP Client Request for whole file for download (with username/ password) (1) EGA verifies user and provides list of authorized list of files. (2) (4) Requested BAM data decrypted, and re-encrypted using client key (5) Secure Server responds to FTP requests directly; FTP client downloads the custom-encrypted file Mechanics of secure data access

Acknowledgements Andrew Lyall, ELIXIR project manager Paul Flicek, Ilkka Lappalainen, EGA Alvis Brazma, Functional Genomics, BioMedBridges security