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ISA tools overview 
Alejandra González-Beltrán, PhD 
Oxford e-Research Centre, University of Oxford 
alejandra.gonzalezbeltran@oerc.ox.ac.uk @alegonbel 
COPO kick-off meeting September 16, 2014 Norwich, UK
• Nature Publishing Group‘s Scientific Data 
• BioMedCentral and BGI‘s GigaScience 
• F1000 Research 
• Oxford University Press 
Ontology and sematic web knowledge 
representations 
Ontology for Biomedical Investigation (OBI) for the 
description of the experimental steps 
Statistical ontology (STATO) for the description of 
statistical results 
Applying the linked data and the nanopublication 
approaches to ISA-Tab 
eTRIKS – EUTranslational Information and 
Knowledge management Services 
Consortium of academic (Imperial College, CNRS, Un 
of Luxemburg) and pharmas (Janssen, Merck, AZ, 
Lilly, Lundbeck, Pfizer, Roche, Sanofi, Bayer, GSK) 
building a sustainable, open translational research 
informatics platform 
WG in involving PloS, NPG, BMC, BMJ, OUP, etc. 
Centre for Extended Data Annotation 
and Retrieval (pending notification of 
award) 
Centre will explore a variety of technique to ease the 
work of creating and using standards-driven templates 
for describing and reporting biomedical datasets 
A community-driven platform for plant 
science 
Coordinated by TGAC and in collaboration with 
EMBL-European Bioinformatics Institute and Warwick 
University, COPO will provide platform- and software-as- 
a-service
Related Funded Project: 
Continued Development and Curation 
of the MetaboLights database 
• Large metabolomics lab submission interfaces/ 
integration (API) 
• Analysis tools (online) 
• Tools for visualisation of metabolomics data 
• Enrichment and extension to the reference layer 
• A curation tool for MetaboLights submissions 
• Metabolite identification assistant 
http://www.bbsrc.ac.uk/pa/grants/AwardDetails.aspx?FundingReference=BB/L024152/1
Experimental Metadata 
4 
Notes in lab notebooks 
(information for humans)
Experimental Metadata 
Notes in lab notebooks 
(information for humans) Spreadsheets & tables 
ISA-Tab 
5
Experimental Metadata 
Notes in lab notebooks 
(information for humans) Spreadsheets & tables 
ISA-Tab 
6 
RDF statements 
(information for machines)
Experimental Metadata 
Notes in lab notebooks 
(information for humans) Spreadsheets & tables 
ISA-Tab 
RDF statements 
(information for machines) 
It is all about structuring experimental information to make it available to 
computers and software agents to enable: 
7 
! 
provenance tracking 
assessment and evaluation 
accountability, reliability, trust, evidence 
conservation, preservation, storage, archiving and mining
8
http://www.ama-rochester.org/WP/wp-content/uploads/2013/01/three-pillars.png 
Rocca-Serra et al, 2010! 
Bioinformatics! 
ISA software suite
The format
Why ISA format and Tools? 
investigation 
assay(s) assay(s) 
pointers to data file 
names/location 
external files in 
native or other for-mats 
data data 
investigation 
high level concept to link 
related studies 
study 
the central unit, containing 
information on the subject 
under study, its characteristics 
and any treatments applied. 
a study has associated assays 
assay 
test performed either on 
material taken from the sub-ject 
or on the whole initial 
subject, which produce quali-tative 
or quantitative meas-urements 
(data) 
H. Sapiens 
H. Sapiens 
H. Sapiens 
H. Sapiens 
33 Years 
H1 
H1 
H2 
35 
35 
33 
Years 
Years 
Years 
ISA metadata specifications: 
! 
• workflow and process 
orientated 
• compatible with checklist 
enforcement 
• compatible with external 
vocabulary resources 
• compatible by design with 
existing schemas 
! 
H1.sample1 
H1.sample2 
H2.sample1 
Labeling 
Labeling 
H1.sample1.labeled 
H2.sample1.labeled 
h1-s1.cel 
h1-s2.cel 
h2-s1.cel 
H1 
H2 
H1.sample1 
H1.sample2 
H2.sample1 
Labeling 
Labeling 
H1.sample1.labeled 
H2.sample1.labeled 
h1-s1.cel 
h1-s2.cel 
h2-s1.cel 
H. Sapiens 
35 Years 
MAGE-Tab 
Pride-xml SRA-xml
The software suite
1
2
Personalized NSAID Therapeutics Consortium [PENTACON] 
https://pentacon-bii.princeton.edu/
investigation studies assays 
measurement technology
https://github.ISA-Tab Viewer com/ISA-tools/ISATab-Viewer
3
4
22 
ISA-Tab 
validation 
ISA-Tab 
to 
SRA 
conversion 
Submission 
to ENA 
ISA-Tab 
creation 
(SRA-xml schema)
5
6
The community
26 
A growing ecosystem of over 30 public and internal resources using 
the ISA metadata tracking framework (ISA-Tab and/or tools) to 
facilitate standards-compliant collection, curation, management and 
reuse of investigations in an increasingly diverse set of life science 
domains, including: 
! 
• stem cell discovery 
• system biology 
• transcriptomics 
• toxicogenomics 
• also by communities working to build a library of cellular 
signatures 
! 
• environmental health 
• environmental genomics 
• metabolomics 
• metagenomics 
• nanotechnology 
• proteomics
funders 
27
Thanks for your attention! 
Questions? 
You can email us... 
isatools@googlegroups.com 
View our websites 
View our Git repo & contribute 
http://github.com/ISA-tools 
View our blog 
http://isatools.wordpress.com 
Follow us on Twitter 
@isatools

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COPO kick-off meeting

  • 1. ISA tools overview Alejandra González-Beltrán, PhD Oxford e-Research Centre, University of Oxford alejandra.gonzalezbeltran@oerc.ox.ac.uk @alegonbel COPO kick-off meeting September 16, 2014 Norwich, UK
  • 2. • Nature Publishing Group‘s Scientific Data • BioMedCentral and BGI‘s GigaScience • F1000 Research • Oxford University Press Ontology and sematic web knowledge representations Ontology for Biomedical Investigation (OBI) for the description of the experimental steps Statistical ontology (STATO) for the description of statistical results Applying the linked data and the nanopublication approaches to ISA-Tab eTRIKS – EUTranslational Information and Knowledge management Services Consortium of academic (Imperial College, CNRS, Un of Luxemburg) and pharmas (Janssen, Merck, AZ, Lilly, Lundbeck, Pfizer, Roche, Sanofi, Bayer, GSK) building a sustainable, open translational research informatics platform WG in involving PloS, NPG, BMC, BMJ, OUP, etc. Centre for Extended Data Annotation and Retrieval (pending notification of award) Centre will explore a variety of technique to ease the work of creating and using standards-driven templates for describing and reporting biomedical datasets A community-driven platform for plant science Coordinated by TGAC and in collaboration with EMBL-European Bioinformatics Institute and Warwick University, COPO will provide platform- and software-as- a-service
  • 3. Related Funded Project: Continued Development and Curation of the MetaboLights database • Large metabolomics lab submission interfaces/ integration (API) • Analysis tools (online) • Tools for visualisation of metabolomics data • Enrichment and extension to the reference layer • A curation tool for MetaboLights submissions • Metabolite identification assistant http://www.bbsrc.ac.uk/pa/grants/AwardDetails.aspx?FundingReference=BB/L024152/1
  • 4. Experimental Metadata 4 Notes in lab notebooks (information for humans)
  • 5. Experimental Metadata Notes in lab notebooks (information for humans) Spreadsheets & tables ISA-Tab 5
  • 6. Experimental Metadata Notes in lab notebooks (information for humans) Spreadsheets & tables ISA-Tab 6 RDF statements (information for machines)
  • 7. Experimental Metadata Notes in lab notebooks (information for humans) Spreadsheets & tables ISA-Tab RDF statements (information for machines) It is all about structuring experimental information to make it available to computers and software agents to enable: 7 ! provenance tracking assessment and evaluation accountability, reliability, trust, evidence conservation, preservation, storage, archiving and mining
  • 8. 8
  • 11. Why ISA format and Tools? investigation assay(s) assay(s) pointers to data file names/location external files in native or other for-mats data data investigation high level concept to link related studies study the central unit, containing information on the subject under study, its characteristics and any treatments applied. a study has associated assays assay test performed either on material taken from the sub-ject or on the whole initial subject, which produce quali-tative or quantitative meas-urements (data) H. Sapiens H. Sapiens H. Sapiens H. Sapiens 33 Years H1 H1 H2 35 35 33 Years Years Years ISA metadata specifications: ! • workflow and process orientated • compatible with checklist enforcement • compatible with external vocabulary resources • compatible by design with existing schemas ! H1.sample1 H1.sample2 H2.sample1 Labeling Labeling H1.sample1.labeled H2.sample1.labeled h1-s1.cel h1-s2.cel h2-s1.cel H1 H2 H1.sample1 H1.sample2 H2.sample1 Labeling Labeling H1.sample1.labeled H2.sample1.labeled h1-s1.cel h1-s2.cel h2-s1.cel H. Sapiens 35 Years MAGE-Tab Pride-xml SRA-xml
  • 13.
  • 14. 1
  • 15. 2
  • 16. Personalized NSAID Therapeutics Consortium [PENTACON] https://pentacon-bii.princeton.edu/
  • 17. investigation studies assays measurement technology
  • 18.
  • 20. 3
  • 21. 4
  • 22. 22 ISA-Tab validation ISA-Tab to SRA conversion Submission to ENA ISA-Tab creation (SRA-xml schema)
  • 23. 5
  • 24. 6
  • 26. 26 A growing ecosystem of over 30 public and internal resources using the ISA metadata tracking framework (ISA-Tab and/or tools) to facilitate standards-compliant collection, curation, management and reuse of investigations in an increasingly diverse set of life science domains, including: ! • stem cell discovery • system biology • transcriptomics • toxicogenomics • also by communities working to build a library of cellular signatures ! • environmental health • environmental genomics • metabolomics • metagenomics • nanotechnology • proteomics
  • 28. Thanks for your attention! Questions? You can email us... isatools@googlegroups.com View our websites View our Git repo & contribute http://github.com/ISA-tools View our blog http://isatools.wordpress.com Follow us on Twitter @isatools