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• Erik van Mulligen • Marco Roos • Scott Marshall • Maarten Hekkelmans • Martijn Schuemie • Ivo Fokkema • Marc van Driel • Barend Mons • Nigam Shah • Andrew Gibson • Gerard Meijssen • Yaron Koren • Marc Weeber • Christine Chiceste • Daniel Kinzler Ravi Kalaputapu Acknowledgements •Antoine van Kampen • Ruben Kok • Gert Jan van Ommen • Johan den Dunnen • Bill Melton e ‘Virtual Tech Team’ • Albert Mons •Jan Velterop •Jacintha van Beemen •Geoffrey Bilder •Mark Musen • Carole Goble • Frank van Harmelen inancial support Logistics and advise

Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard

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Page 1: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard

• Erik van Mulligen• Marco Roos• Scott Marshall• Maarten Hekkelmans• Martijn Schuemie• Ivo Fokkema• Marc van Driel• Barend Mons

• Nigam Shah• Andrew Gibson• Gerard Meijssen• Yaron Koren

• Marc Weeber• Christine Chicester• Daniel Kinzler• Ravi Kalaputapu

Acknowledgements

•Antoine van Kampen• Ruben Kok• Gert Jan van Ommen• Johan den Dunnen• Bill Melton

The ‘Virtual Tech Team’

• Albert Mons•Jan Velterop•Jacintha van Beemen•Geoffrey Bilder•Mark Musen• Carole Goble• Frank van Harmelen

Financial support Logistics and advise

Page 2: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard

Token Object

Concept

‘cancer’

‘cancer’Malignant NeoplasmsKrebskrankheitEtcC0-265

Unique ID

Page 3: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard

Concepts (with Unique Concept Identifiers – CIDs)

Digital Objects (with Digital Object Identifiers – DOIswhich are a form of Uniform Resource Name – URN)

Uniform Resource Locators – URLs

URLs not incorporating unique object or concept identifiers

Triples incorporating concept identifiers

(CIDs)

URLs incorporating object identifiers (DOIs URNs)

Objects can be digital or tangible, but this context is only about digital objects

Concepts can be conceptual or tangible, but never digital – they can be represented digitally or not

Unique concept identifiers are particularly important when they are represented digitally

Uniform Resource Identifier – URI – is an umbrella term for URNs and URLs

Page 4: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard

Concept 1 Concept 2Concept 3

Barend Mons ‘published’ This article (DOI)

CAPN3_000265 ‘has pathogenicity’ LGMD2A

Dystrophin (Homo Sapiens) ‘interacts with’ SNT3

Calpain-3 (Homo Sapiens) ‘has GO annotation’ ProteosomeEndopeptidaseactivity

Page 5: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard

Information silos

MRSIndex, virtual concepts

Daily feed

Triple Store

<ID1><edge><ID2>

Triple construction(unsupervised)

UniprotPubMed

NextprotCALIPHO

InWeb WikiPro SERMO BioBanksLOVD

GEO GWA

Tools, RDF, OWL, OBO, Protege

CommunityAnnotation(a posteriori)

CommunityAnnotation(a posteriori)

Direct feedBlogs, etc.

CommunityAnnotation(a priori)

Peregrine

Concept MappingQuery (expanded)

Harmonized data

Page 6: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard
Page 7: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard

<rdf:Description rdf:about="http://www.nbic.nl/cwa/relation/C0035820#C0060383#1240641052059"><cwa:typeRelation rdf:resource="http://www.nbic.nl/cwa#cooccurrence"/><cwa:strength>0.0625</cwa:strength><cwa:has_query>Limb girdle</cwa:has_query><cwa:discovered_by rdf:resource="http://www.nbic.nl/cwa#TripleMiner"/><cwa:timestamp>1240641052059</cwa:timestamp><cwa:annotation rdf:resource="http://www.uniprot.org/uniprot/flnc_human"/></rdf:Description> (free text ?)

Under the hood:

Page 8: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard
Page 9: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard
Page 10: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard
Page 11: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard

<rdf:Description rdf:about="http://www.nbic.nl/cwa/relation/C0035820#C0060383#1240641052059"><cwa:typeRelation rdf:resource="http://www.nbic.nl/cwa#cooccurrence"/><cwa:strength>0.0625</cwa:strength><cwa:has_query>Limb girdle</cwa:has_query><cwa:annotated_by rdf:resource="http://proteins.wikiprofessional-staging.org/index.php/Concept:85094810"/><cwa:timestamp>1240641052059</cwa:timestamp><cwa:annotation rdf:resource="http://www.uniprot.org/uniprot/flnc_human"/></rdf:Description> (free text ?)

The resulting triple: reference to annotator

Page 12: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard
Page 13: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard
Page 14: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard
Page 15: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard
Page 16: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard
Page 17: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard
Page 18: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard
Page 19: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard
Page 20: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard
Page 21: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard
Page 22: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard
Page 23: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard
Page 24: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard
Page 25: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard
Page 26: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard
Page 27: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard
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-Self claim-proxy claim (JDD confirms this is JB)-CrossRef/Publisher mark-articles reviewed (Wikipedia Professional)-Unique Triples created-etc.

Page 30: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard
Page 31: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard
Page 32: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard
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Page 34: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard

biobanks

PLoS

nature

LOVD

google

Page 35: Erik van Mulligen Marco Roos Scott Marshall Maarten Hekkelmans Martijn Schuemie Ivo Fokkema Marc van Driel Barend Mons Nigam Shah Andrew Gibson Gerard

Proposal:• Add all 93,000 (+) mutations to WikiProfessional• display ‘status’ (submitter and curator) in pop up• Link back to relevant ‘LOVD’• Edit in Pop Ups (including research notes• Store each research note (also) in WikiProfessional• Show research notes anywhere• With reference to submitter• Link to unique person page in wikipeople• Have Wikipeople pages authorized by contributors• Have CrossRef certify unique contributor ID• Build tool to approve author self claims on publications• On triples• Enable proxy claims (co-authors)• Enable publisher/CWA approval of claims• Enable nano-credits for contributions• Enable double check by e-mail on ‘identity theft’ • Write/review Wikipedia article on each genetic disease