elixir recommended interoperability resources · standards and ontologies look up services for the...

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www.elixir-europe.org @ELIXIREurope www.elixir-europe.org ELIXIR-EXCELERATE is funded by the European Commission within the Research Infrastructures programme of Horizon 2020, grant agreement number 676559. ELIXIR Recommended Interoperability Resources Carole Goble, ELIXIR-UK Interoperability Platform ExCo ELIXIR Fifth Anniversary, 11 December 2018

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Page 1: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

www.elixir-europe.org

@ELIXIREurope

www.elixir-europe.org

ELIXIR-EXCELERATE is funded by the European Commission within the Research Infrastructures programme of Horizon 2020, grant agreement number 676559.

ELIXIR Recommended Interoperability Resources

Carole Goble, ELIXIR-UKInteroperability Platform ExCo

ELIXIR Fifth Anniversary, 11 December 2018

Page 2: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

Turning FAIR Data into reality: Final Report and Action Plan, European Commission, Nov 2018

Page 3: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

Building a suitable FAIR infrastructure for

finding, exchanging, comparing, aggregating and interlinking biological information across

Europe

Page 4: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

Rare Disease research

Combine more of the same data typeLink up different data types for a more complete picture

Images courtesy of Marco Roos and RD-CONNECT

Page 5: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

Rare Disease research

Harmonise database formats and modelsMap between the terms used in the databasesLink to reference knowledge bases

Images courtesy of Marco Roos

Retrieval and analysis across resources

Page 6: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

Genotypic and Phenotypic data for Crop and Forest Plants

High throughput genomics

Large scale automated phenotyping

Standards for representation of genotypic and phenotypic data

Make data discoverable and interoperable by common APIs

Annotate datasets to deposit into public archives

Page 7: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

Arabidopsis Leaf Length

?IdentifierCO_322:0000994

Maize Plant Height

Identifier CO_322:0000007

Thanks to Frederik Coppens

Page 8: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

Icons courtesy of FAIRsharing.org

Is the same identifier being used for X?Can they be linked?

Are terms being used consistently?Are terms being used in common?

Are the formats the same? Can they be mapped?

Are the same things being reported in the same way?

Do (micro) services have the same or compatible APIs?

Common Agreements for IDs & Descriptions Standards, Link Points

700types 224

754

122

Data from Bioportal.bioontology.org, FAIRsharing.org and Identifiers.org

Page 9: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

BOLD (Barcode of life)

NCBI Taxonomy

Arabian tea plant

Cedar waxwing

GRIN plant taxonomy

Taxon:9606

Mappings across Ontologies for NCIt (Retinoblastoma)*

* Courtesy of Simon Jupp, ** Courtesy of openPHACTS

Mappings across databases for the same entity**

Page 10: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

Making connections across fragmented resources

Page 11: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

Hence…. FAIR Data Principles

Registration and search

Persistent and reused identifiers

Common, structured, interlinked metadata

Open access protocols

Machine processing

Page 12: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

Turning FAIR Data Principles into Reality

Open Standards

Services &Resources

Machine processable

Page 13: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

Interoperability Resources

Validata

Page 14: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

Genotypic and Phenotypic data for Crop and Forest PlantsInteroperability Resources

ELIXIR Plant Data Lookup Service

Registries for the standards and ontologies

Look up services for the identifiers and concepts

Services to help annotate & validate databases and data submissions against to reporting guidelines & formats

Services to harvest, map, search metadata ..

Map between different concepts and identifiers for same thing.

Page 15: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

Standards: formats, reporting guidelines, ontologies

Search engine for datasets.

Metadata services: ontology, annotation, validation, harvesting, Indexing

Register services and datasets

Best practice.

Harmonisation of tools and pipelines

Describing and sharing workflows between different systems

Common Programmable Interfaces

Identifier resolution & management

Identifier mapping services

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Iden

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Serv

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and

Res

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FA

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Regi

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Link

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ata

Kno

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Hub

BYO

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Met

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rds

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Marine Plants Rare Disease

Human Data

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What Interoperability Resources are needed?

Page 16: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

ELIXIR Interoperability Resources Framework

Workflows

Aggregators

Applications

Search

Tool & API

Resources(Bioschemas)

Workflows(CWL)

Data type specific Ontologies, formats, reporting guidelines,

APIs

AuthoritiesIdentifier

Metadata Annotation

Markup

Citation

Harvesting

MetadataValidation

OntologyMapping

IdentifierMapping

Indexing

Search

OntologyLookup

Identifierresolution

OntologyManagement

Identifier minting

ExtractTransformLoad

Type specific mapping

and resolution

Type specific

integration

Standards

StandardsRegistry

OntologiesRegistry

Tools WorkflowsIdentifiersRegistry

Page 17: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

StandardsRegistry

OntologiesRegistry

IdentifiersRegistry

Interoperable ELIXIR Interoperability Resources Framework

Workflows

Aggregators

Applications

Search

Tool & API

Resources(Bioschemas)

Workflows(CWL)

Data type specific Ontologies, formats, reporting guidelines,

APIs

Standards AuthoritiesIdentifier

Tools Workflows

Metadata Annotation

Markup

Citation

MetadataValidation

OntologyMapping

IdentifierMapping

OntologyLookup

Identifierresolution

OntologyManagement

Identifier minting

ExtractTransformLoad

Harvesting

Harvesting

Indexing

Search

Type specific mapping

and resolution

Type specific

integration

Page 18: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

Example: Identifier Resolution of Data on the WebMultiple URLs for the same collection make object unification challenging

NCBITaxon:9606

http://www.ebi.ac.uk/ols/ontologies/ncbitaxon/terms?short_form=NCBITaxon_9606

http://www.ebi.ac.uk/ena/data/view/Taxon:9606

http://purl.uniprot.org/taxonomy/9606

Resolution Services keep track and handle the different locations and different identifier systemsThe Resolution Services themselves are harmonised

Thanks to Nick Juty and Sarala Wimalaratne

Page 19: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

International Interoperability Resources

ELIXIR is part of a global ecosystem

Page 20: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

What are Recommended Interoperability Resources?An ELIXIR Service supplied by one or more Nodes

High quality of service

and support

Plays important role in our

interoperability framework

Are FAIR and

interoperate in a resource ecosystem

https://www.elixir-europe.org/platforms/interoperability/rir-selection

Page 21: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

What are Recommended Interoperability Resources?An ELIXIR Service supplied by one or more Nodes

https://www.elixir-europe.org/platforms/interoperability/rir-selection

establish connections between data (and other) resources

helpsacquire and expose metadata of data (and other) resources

create infrastructure needed to build integrabledata collections

use interoperability resources to support delivery of FAIR principles

Plays important role in our

interoperability framework

Page 22: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

An Interoperability Resource for findability & metadata exchange for all of ELIXIR’s Resources

Metadata about web based resources using a widely adopted web standard in a community agreed way

MarRef Database

Page 23: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

An Interoperability Resource for findability & metadata exchange for all of ELIXIR’s Resources

Metadata about web based resources using a widely adopted web standard in a community agreed way

aggregators

registries

search engines

applications

Page 24: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

An Interoperability Resource for findability and exchange of ELIXIR’s workflows and pipelines

Pioneered by Marine Metagenomics

Courtesy Rob Finn, Nils P. Willassen and Michael Crusoe

Page 25: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

Resources gap

FAIR metadata at source

“The first and last mile”

Image courtesy of Sansone, McQuilton et al FAIRsharing.org

first

last

Page 26: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

First round of Recommended Interoperability Resources

completes process ….

Page 27: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

First round of Recommended Interoperability Resources

completes process ….

tomorrow!

Page 28: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

RIRs are ELIXIR added value to enableFAIR Core Data Resources (and other ELIXIR resources)

Oversee quality and reliability

Develop an integrated portfolio

Support sustainability

RIR

Page 29: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

Acknowledgements

Special Thanks:Michael CrusoeRafael JimenezAlasdair Gray Stian Soiland-ReyesSusanna Sansone Simon JuppTony Burdett Sira SarntivijaiJerry LanfearNick JutySarala WimalaratneFrederik CoppensJustin Clark-CaseyPeter McQuiltonRobert Finn

Marco RoosAnd many more!

Page 30: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

www.elixir-europe.org

@ELIXIREurope

www.elixir-europe.org

ELIXIR-EXCELERATE is funded by the European Commission within the Research Infrastructures programme of Horizon 2020, grant agreement number 676559.

Thank you!

Page 31: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

ELIXIR Interoperability Resources Framework

Workflows

Aggregators

Applications

Search

Tool & API

Resources(Bioschemas)

Workflows(CWL)

Data type specific Ontologies, formats, reporting guidelines,

APIs

AuthoritiesIdentifier

Metadata Annotation

Markup

Citation

Harvesting

MetadataValidation

OntologyMapping

IdentifierMapping

Indexing

Search

OntologyLookup

Identifierresolution

OntologyManagement

Identifier minting

ExtractTransformLoad

Type specific mapping

and resolution

Type specific

integration

Standards

StandardsRegistry

OntologiesRegistry

Tools WorkflowsIdentifiersRegistry

Page 32: ELIXIR Recommended Interoperability Resources · standards and ontologies Look up services for the identifiers and concepts Services to help annotate & validate databases and data

The 2018 Recommendations of RIRs

Resource Description

FAIRsharing Registry of curated metadata of DBs, Policies, Standards

g:Profiler Gene-centric data integrator - Web UI, and API services

Identifiers.org Persistent URL provider & identifier resolver

Intermine DIY database portal builder for model organism of choice

ISA Framework Curation for metadata of experiments (Project -> Study -> Assay)

Ontology Lookup Service (OLS) Google-like ontology term search

3DBIONOTES API* API aiding protein annotation by calling info from ref. resources

BridgeDb Identifier mapping for cheminformatics domain

DisGeNET API* API SPARQL Endpoint for genetic variant - human disease data

MOLGENIS Bioinformatics data integrator suite - explore/annotate/exchange