The document discusses two initiatives - Cafe RouGE and ORCID - for improving data sharing and attribution for genetic research data. Cafe RouGE is a central clearinghouse that assigns DOIs to genetic variation data submitted by diagnostic laboratories to facilitate sharing and tracking data usage. ORCID seeks to address challenges in attributing work to contributors by providing a global registry of disambiguated IDs for researchers. The initiatives aim to improve data publication, citation and credit for data submitters.

1. G. A. Thorisson, University of Leicester
DOIs for genetic research data
identifying datasets and data contributors
Gudmundur ‘Mummi’ Thorisson
Twitter: @gthorisson
<gt50@le.ac.uk>
Department of Genetics, University of Leicester
ORCID - http://www.orcid.org
GEN2PHEN - http://www.gen2phen.org
-- Outline --
• Cafe RouGE - central clearinghouse for genetic variation data
• ORCID - tackling the contributor identification challenge
This work can be freely copied, redistributed and
adapted, as long as proper attribution is given
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2. G. A. Thorisson, University of Leicester
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3. G. A. Thorisson, University of Leicester
Cafe RouGE - Café for Routine Genetic data Exchange
1. Diagnostic 2. Central 3. End-users (e.g.
laboratories ‘clearinghouse’ LSDB curators)
Publish data Retrieve Atom feeds
Submi&ng
muta,ons
from
diagnos,c
labs
using
“Café
RouGE
enabled”
so<ware
via
simple
bu@on
click Data
are
shared
with
diverse
3rd
par,es
via
manual
retrieval
or
automated
feed-­‐
based
monitoring/retrieval
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4. G. A. Thorisson, University of Leicester
Aim:publication credit for Cafe submissions
• Journal publication:
Thorisson, G.A. Accreditation and attribution in data sharing. Nature Biotechnology 27,
984 - 985 (2009) doi:10.1038/nbt1109-984b
=> http://www.nature.com/nbt/journal/v27/n11/full/nbt1109-984b.html
• Data publication:
G. A. Thorisson. 4x variants in BRCA2 gene. Published online via Cafe RouGE. 21
January (2011) doi:10.1255/caferouge.BRCA2-2352354
=> http://api.caferouge.org/atomserver/v1/caferouge/mutations/2352354
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5. G. A. Thorisson, University of Leicester
Data
shared
with
diverse
3rd
par6es
and
data
usage/cita6on
tracked
via
DOI
Submission
from
diag.
lab
✔
DOI
assigned
to
incoming
data
upload
Cafe
RouGE
Depot
dbSNP
(coding)
UniProt
PhenCode
Already
stable
IDs
so
no
DOI
assigned
AAribu6on
given
to
data
submiAers
via
ORCID
unique
iden6fier
Metadata
describing
varia6on
data
published
elsewhere
DataCite workshop 4 April 2011
Monday, 4 April 2011 http://

6. G. A. Thorisson, University of Leicester
Data
shared
with
diverse
3rd
par6es
and
data
usage/cita6on
tracked
via
DOI
Submission
from
diag.
lab
✔
DOI
assigned
to
incoming
data
upload
Cafe
RouGE
Depot
dbSNP
(coding)
UniProt
PhenCode
Already
stable
IDs
so
no
DOI
assigned
AAribu6on
given
to
data
submiAers
via
ORCID
unique
iden6fier
Metadata
describing
varia6on
data
published
elsewhere
DataCite workshop 4 April 2011
Monday, 4 April 2011 http://

7. G. A. Thorisson, University of Leicester
The ORCID initiative - tackling contributor
identification challenges
?
ORCID
ORCID ID: B-1242-2010 F67572010
G. Thorisson, Univ. Leicester
G. A. Thorisson, Univ. Leicester
G. A. Thorisson, Cold Spring Harbor Lab.
ORCID ID: G-1442-2009
J. Smith, Univ. North Pole
ORCID ID: D-2400-2010
J. Smith, Luthor Corporation
Global registry of disambiguated IDs for contributors:
i) UI for researchers to manage & use their ORCID ID
ii) facilitate linking content creators with their work (attribution links)
iii) interact with other systems (publishers, digital libraries, universities etc)
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8. G. A. Thorisson, University of Leicester
Key use case: submitting manuscript to journal
Attribution statement deposited into ORCID:
• A-883-2010 <created> 10.4259/psycho-review.gbilder2010.Foobar
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9. G. A. Thorisson, University of Leicester
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10. G. A. Thorisson, University of Leicester
tio ns
a ni za rg
O rg id .o
2 0 0 .o rc
> w w
:/ /w
ht tp
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11. G. A. Thorisson, University of Leicester
Attributing other types of ‘published work’
G. Thorisson, Univ. Leicester
gthorisson@gmail.com
ORCID ID: A-883-2010
• Thorisson, G. (A-883-2010), Bilder, G.W. (C-035-2009) and Fenner, M. (A-101-2010).
Icelandic 9th century viking bowl. Psychoceramics Archive. Sep 2 2010.
doi:10.4259/psycho.5gtpq-thorisson
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12. G. A. Thorisson, University of Leicester
Attributing other types of ‘published work’
G. Thorisson, Univ. Leicester
gthorisson@gmail.com
ORCID ID: A-883-2010
• Thorisson, G. (A-883-2010), Bilder, G.W. (C-035-2009) and Fenner, M. (A-101-2010).
Icelandic 9th century viking bowl. Psychoceramics Archive. Sep 2 2010.
doi:10.4259/psycho.5gtpq-thorisson
• A-883-2010 <created> 10.4259/psycho-image5gtpq-thorisson
• C-035-2009 <created> 10.4259/psycho-image5gtpq-thorisson
• A-101-2010 <created> 10.4259/psycho-image5gtpq-thorisson
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13. G. A. Thorisson, University of Leicester
• Some DOI issues for discussion
– Granularity & versioning
• citing datasets vs citing collections of datasets (including databases)
• organization - datasets within databases, aggregation
• databases =~ journals, BUT changing resources?
• DOI identifies a work which may be a new version of a previous work
– When is it “appropriate” to assign DOIs?
• original datasets published via the online repository
• derived datasets resulting from analysis of primary data
• republished datasets acquired from elsewhere?
– Identifier structure: desire for branding vs opacity (10.163/caferouge.325fff5)
• Contributor recognition: ORCID IDs for data creators / contributors
– ORCID will support datasets registered via DataCite
• Early adopter outreach - summer/autumn 2011
– DataCite metadata schema: where do contributor IDs fit in? (Creator field)
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14. G. A. Thorisson, University of Leicester
Coming autumn 2011, to a venue near you!
Int’l workshop on researcher identity
• Co-organized by CSC (Finland IT Centre for Science)
• Provisional title: “Identity in research infrastructure and
scientific communication" - IRISC
• Location: Helsinki
• Dates: September 12-13
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15. G. A. Thorisson, University of Leicester
Acknowledgements
GEN2PHEN Consortium This work has received funding from
the European Community's Seventh
http://www.gen2phen.org/about-gen2phen/partners
Framework Programme
(FP7/2007-2013)
under grant agreement number
200754 - the GEN2PHEN project.
Anthony J. Brookes Bioinformatics Group
Contact me!
Gudmundur ‘Mummi’ Thorisson
<gt50@le.ac.uk> |<gthorisson@gmail.com>
http://friendfeed.com/mummit
http://www.linkedin.com/in/mummi
http://www.twitter.com/gthorisson
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