ELIXIR Beacon Project 1 genomicsandhealth.org ELIXIR Beacon - PowerPoint PPT Presentation

ELIXIR Beacon Project 1 genomicsandhealth.org

ELIXIR Beacon Project A Beacon is a discovery service for genetic variants Developing tools to make data discoverable • Aiding data sharing • Increasing efficiency in data access process • https://beacon-network.org www.elixir-europe.org/beacons GA4GH Ilkka Juha Törnroos Discovery Lappalainen CSC Technical Contacts Project Champions ELIXIR FI Miro Cupak Jordi Rambla DNAStack ELIXIR ES Marc Fiume Serena Scollen DNAstack ELIXIR HUB Michael Baudis Sabela de la Torre SIB CRG genomicsandhealth.org

Public data discovery web-service Do you have information Do you have information about the allele “C at about the allele “C at position 32,936,732 on position 32,936,732 on chromosome 13?” chromosome 13?” Yes / No Beacon X: Yes (+optional metadata Beacon Y: No about the allele) Beacon Z: No … https://beacon-network.org genomicsandhealth.org

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Beacon adop6on Organizations Beacons Datasets Individuals The image canno t be displa yed. Your comp Beacons Six Beacons lit by ELIXIR Nodes in 2016-2017 Each Beacon makes one or more genomics datasets discoverable to the international research community genomicsandhealth.org

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ELIXIR Beacon Project - 2017 Packaging Beacon 2016 prototype and documentation to support deployment by other Nodes/centres without the need to participate in project Standards & Challenges: Evolving Beacon APIs with use cases • Development of a Clinical Beacon • Network Monitoring & Security to mitigate re- • identification attempts Strategic partnering with national data owners to enable data flow through the Beacon service genomicsandhealth.org 7

ELIXIR Beacon Project – 2017 Onwards GA4GH Strategic roadmap in development – Merging efforts with the GA4GH Discovery & Data security technical work streams Challenge: Global effort, mostly volunteer input, wide range of technical and scien6fic exper6se • Need for a secure , stable and sustainable produc6on Beacon service • Having funding for another year will help drive the project’s efforts with the help of ELIXIR’s strengths and exper6se • Help align & disseminate GA4GH standards not just Europe, but globally Development of beacon and network of beacons (registry and search), considering security, consent etc. • Aligned with ELIXIR Beacon project work plan • Addi6onal add-on applica6ons in development • Addi6onal clinically focused applica6ons in development genomicsandhealth.org

ELIXIR Beacon Project – Driving Use cases Beacon Metadata Profiles public YES YES YES BRAC Exch UCSC ELIXIR-FI BRAC2 UCSC FIN-Agg http://url.com http://url.com http://url Origin Origin Query: 1345 / 5000 1345 / 5000 Diabetes FINRISK Do you have allele: T Cohort ClinSig at position: 166226587 on: chromosome 2? registered SCN9A; Beacon GRCh38:Chr2: 166226587; "T>G"; "pathogenic"; "primary erythromelalgia "; controlled COMPUTE INTEROP TOOLS DATA TRAINING Challenges & Roadmap: 1. Expanded Query Profiles – CNV, Struct Range, Metadata, etc. 2. Metadata Response Profiles – Public | Registered | Controlled 3. Alignment with global standards – GA4GH Knowledge Standards 4. User Auth/Authz – Consistent User auth/authz profiles 5. Beacon Federation – Secured Access via Beacon Federation 6. Logical Handoff/Transfer – Data source handoff or transfer service 7. Service Discovery Networks – Services to help services discover others genomicsandhealth.org

ELIXIR Beacon Project Q&A 10 genomicsandhealth.org