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

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May 09, 2023 220 likes •333 views

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

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genomicsandhealth.org

ELIXIR Beacon Project

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genomicsandhealth.org Marc Fiume DNAstack Serena Scollen ELIXIR HUB

https://beacon-network.org www.elixir-europe.org/beacons 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

Ilkka Lappalainen ELIXIR FI Jordi Rambla ELIXIR ES Michael Baudis SIB Sabela de la Torre CRG Miro Cupak DNAStack

Project Champions Technical Contacts GA4GH Discovery

Juha Törnroos CSC

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genomicsandhealth.org

Do you have information about the allele “C at position 32,936,732 on chromosome 13?” Yes / No (+optional metadata about the allele)

https://beacon-network.org

Do you have information about the allele “C at position 32,936,732 on chromosome 13?” Beacon X: Yes Beacon Y: No Beacon Z: No …

Public data discovery web-service

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genomicsandhealth.org

Beacon adop6on

Organizations Beacons Datasets Individuals

Each Beacon makes one or more genomics datasets discoverable to the international research community Beacons Six Beacons lit by ELIXIR Nodes in 2016-2017

The image canno t be displa yed. Your comp

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ELIXIR Beacon Project - 2017

Packaging Beacon 2016 prototype and documentation to support deployment by

ther 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

wners to enable data flow through the

Beacon service

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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

ELIXIR Beacon Project – 2017 Onwards

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COMPUTE TOOLS INTEROP DATA TRAINING

ELIXIR Beacon Project – Driving Use cases

Query: Do you have allele: T at position: 166226587

n: chromosome 2?

registered controlled public

YES BRAC Exch BRAC2 http://url.com Origin YES UCSC UCSC http://url.com 1345 / 5000 Diabetes Cohort ClinSig YES ELIXIR-FI FIN-Agg http://url Origin 1345 / 5000 FINRISK SCN9A; GRCh38:Chr2: 166226587; "T>G"; "pathogenic"; "primary erythromelalgia "; Beacon

Beacon Metadata Profiles

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

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Q&A

ELIXIR Beacon Project