BRIF workshop Toulouse 2012 Digital IDs subgroup

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BRIF Digital identifiers subgroup

-- Overview --

‣Brief backgrounder on identification & digital identifiers

‣Use cases for bio-resource identification in BRIF‣Digital resources: datasets, databases (Mummi)

‣Non-digital resources: projects, studies, cohorts [...] (Pierre)

‣Conclusions and next steps

This work is published under the Creative Commons Attribution license (CC BY: http://creativecommons.org/licenses/by/3.0/) which means that it can be freely copied, redistributed and adapted, as long as proper attribution is given.

Gudmundur A. Thorisson <gt50@leicester.ac.uk> GEN2PHEN / University of LeicesterPierre-Antoine Gourraud <pierreantoine.gourraud@ucsf.edu> UCSF

Monday, 22 October 12

BRIF workshop, Toulouse Oct 22 2012

BRIF and bio-resource identification

• The identification requirement: need to identify resources in order to– track use/reuse and impact

– credit those who contribute to them

• Biobanking projects have relied on:– Project/study/cohort names

• Example: the GAZEL study in France >20 years http://www.gazel.inserm.fr • Challenges: - ad hoc agreements with research groups who reuse samples or data

- painstaking manual searching through literature for mentions of ‘GAZEL‘ - project names are often ambiguous in global context

Monday, 22 October 12

Monday, 22 October 12

BRIF workshop, Toulouse Oct 22 2012

BRIF and bio-resource identification

• The identification requirement: need to identify resources in order to– track use/reuse and impact

– credit those who contribute to them

• Example: biobanking projects frequently rely on...– Project/study/cohort names

• Example: the GAZEL study in France >20 years http://www.gazel.inserm.fr • Challenges: - ad hoc agreements with research groups who reuse samples or data

- painstaking manual searching through literature for mentions of ‘GAZEL‘ - project names are often ambiguous in global context

– Citations to journal publications• Which paper to cite? Tricky to keep track of which citations are relevant to impact • Also troublesome if there is no paper to cite (e.g. for a new study)

Monday, 22 October 12

BRIF workshop, Toulouse Oct 22 2012

Digital identifiers - some background

• Definition: a digital identifier is a character string used to uniquely identify i) a digital object in a computer system, or ii) a record in a computer system which describes a non-digital object

• Persistence - once assigned, identifier MUST NOT change• Uniqueness - global scope vs local scope

– Most ID schemes require tacid knowledge of the type of identifier to interpret• Example: EC grant identifiers in acknowledgement statements

Monday, 22 October 12

BRIF workshop, Toulouse Oct 22 2012

This work has received funding from the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement number 200754 - the GEN2PHEN project.

Monday, 22 October 12

BRIF workshop, Toulouse Oct 22 2012

This work has received funding under grant agreement number 200754

Monday, 22 October 12

BRIF workshop, Toulouse Oct 22 2012

Digital identifiers - some background

• Definition: a digital identifier is a character string used to uniquely identify i) a digital object in a computer system, or ii) a record in a computer system which describes a non-digital object

• Persistence - once assigned, identifier MUST NOT change• Uniqueness - global scope vs local scope

– Most ID schemes require tacid knowledge of the type of identifier to interpret• Example: EC grant identifiers

• Some problem domains require for globally unique IDs– Example: ISBN numbers to identify books, e.g. for copyright purposes

• Some problem domains require resolvable IDs– Resolve = retrieve out information about the thing being identified, including where

to access it (for a digital object, its location on the Internet)– Digital Object IDs best known, but several other systems exist

Monday, 22 October 12

Monday, 22 October 12

BRIF workshop, Toulouse Oct 22 2012

Identifier use cases in BRIF

• 3x broad categories of “stuff” to identify

i) Digital resourcesResources that actually “lives” in computers (born-digital or digitized content): datasets and databases

ii) Physical resourcesResources corresponding to actual physical things: samples, groups of samples, experimental instruments, etc.

iii) Project-level and other “meta” resourcesHigher-level aggregates of things, projects, organizations, consortia etc.

NB in many cases identifiers already exist for these things, but they are not exposed to the outside world in a usable form (i.e. made resolvable, citable, globally-unique).

Monday, 22 October 12

BRIF workshop, Toulouse Oct 22 2012

Datasets

• Definition: a data set (or dataset) is a collection of data, often presented in tabular form but in the bio-sciences also frequently in a multitude of domain-specific formats, such as FASTA for biological sequences

• Data publication and data citation is a hot topic - lots of research and infrastructure-building activity in recent years

• Emerging best practices for data citation & attribution• Identifiers for dataset - persistent data DOIs issued via DataCite

• Little new for BRIF to add here, except issue recommendations– KEY POINT: infrastructure for data preservation and access is a prerequisite for any

sort of persistent bio-dataset identification scheme. Many projects don’t have this!

Monday, 22 October 12

BRIF workshop, Toulouse Oct 22 2012

Data DOI scenario (simplified)

1. Research group registers a dataset and metadata in a suitable domain repository (or their own repository)

2. Repository archives dataset and and assigns a DOI name to it

3. Unique DOI name is used by article authors (and others) to indicate resource reuse (ideally via formal data citation)

4. Journal article reference listings & full-text and other sources are mined to identify references to dataset and/or downloads

5. Dataset-level metrics calculated from collected datae.g. - total no. citations in scholarly articles - no. secondary citations (citations to papers which cited the original dataset) - no. downloads in the last 2 years

Monday, 22 October 12

BRIF workshop, Toulouse Oct 22 2012

ORCID and DataCite Interoperability Network

• Persistent identifiers for connecting people and dataset

• 2y EC-funded project, 7 partners in Europe + USA• Two main proof-of-concept pilots

– Social Science data - use and citation of British Birth Cohort Studies

• historical data, decades old, steadily being curated by lots of different people

• high rate of reuse, often cited in papers

– High-energy physics - attribution challenges• dealing with large no. authors on HEP papers - ‘dilution’ of the term

authorship• Linking HEP papers to supporting datasets

http://odin-project.eu/

Monday, 22 October 12

BRIF workshop, Toulouse Oct 22 2012

Databases• Definition: an online database can be regarded as a collection of

data, but made accessible in such a way that facilitates using the data to answer scientific question, via  structured querying and/or free-text searching of the data over the Internet

• Broad range, from large-scale DNA and protein sequence repositories to small locus-specific databaess– E.g. GenBank, UniProt, GWAS Central, Ehlers-Danlos Syndrome Variant Database

• Challenges in assessing impact & attributing curators– Reliance citations to database paper, if there is one (sometimes many)

• Analyzing website traffic is another indicator - highly-accessed database =~ important

– Database URLs sometimes change– Database name + URL often only mentioned only in materials&methods, no citation

– Credit via authorship impossible if there is no database journal paper

Monday, 22 October 12

BRIF workshop, Toulouse Oct 22 2012

BioDBCore - global catalogue of bio-db’s• BioDBCore aims

– annotation - organize the bio-database ‘resourceome’

– discovery - e.g. which protein sequence databases are available?

• Who’s behind it?– International Society for Biocuration– Resource catalogues: Bioinformatics Links,

BioSiteMaps, NAR db-issue etc – Working group includes reps from NAR and

DATABASE journals, MIBBI, Model organism db’s, others

• Catalogue will have persistent identifiers for each db entry

http://www.biosharing.org/biodbcore

Monday, 22 October 12

Monday, 22 October 12

BRIF workshop, Toulouse Oct 22 2012

•[slot in Pierre]

Monday, 22 October 12

From  Pa(ents  to  BioBanks  and  back…

• Persistent  IDs  for  datasets  &  other  digital  resources–Absolute  need

• From  BioresourceResearchIF  to  BioresourceXIF–More  than  an  IP  address  ?  

• Increase  need  of  iden<fica<on  for  source  of  informa<on  in  general  –  Not  only  research  purpose…– “Big  data”  –Quan<fied  self.

• Blurring  the  border  between  :  Research,  data  (Non-­‐CLIA),    Clinically  approved  ,  consumer  centered  data

Monday, 22 October 12

Database  Gateway    &  Computa1ons

Reference  groups  of  pa.entsIndividual  data

User  data Imaging

Front-­‐end  tablet  

Applica1on

Copyright  ©  2012  The  Regents  of  University  California,  USA  -­‐  All  right  reserved.  Monday, 22 October 12

BRIF workshop, Toulouse Oct 22 2012

Conclusions / next steps• Complex landscape, lots of problems to tackle• Key challenge will be to get authors to use the right identifiers

– education, awareness, best practices, journal guidelines etc.

– build support into tools that researchers use

• Potential outputs from BRIF subgroup, by end of GEN2PHEN– Continue work on whitepaper on identifiers (partial drafted earlier in the year)– Compile recommendations for authors & biobankers, for use cases where workable

solutions exist or are emerging (data DOIs, BioDBCore)

• Need some biobanker-expert help in ID subgroup!– Esp. to look in-depth into study catalogues with established identifier schemes

• International Clinical Trials Registry Platform

• ClinicalTrials.gov • P3G study catalogue

Monday, 22 October 12

BRIF workshop, Toulouse Oct 22 2012

Acknowledgements GEN2PHEN Consortium

http://www.gen2phen.org/about-gen2phen/partners

Prof Anthony J. Brookes Bioinformatics Group, Leicester

This work has received funding from the European Community's Seventh Framework Programme (FP7/2007-2013)under grant agreement number 200754 - the GEN2PHEN project.

Contact me!

<gt50@le.ac.uk> |<gthorisson@gmail.com>http://www.linkedin.com/in/mummihttp://www.twitter.com/gthorisson

http://www.gthorisson.namePublished under the CC BY license (http://creativecommons.org/licenses/by/3.0/)

Monday, 22 October 12