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Overview of the ISA format and software suite
Help researchers to
curate, store, analyse, share and publish their experiments
Susanna-Assunta Sansone, PhD (associate director, PI)

Philippe Rocca-Serra, PhD (technical coordinator)
Alejandra Gonzalez-Beltran, PhD (senior developer)
Eamonn Maguire, DPhil candidate (senior developer)
Pavlos Georgiou, MSc candidate (developer)
and new team member to be recruited
Focus on the experimental context and compliance to standards

user community

The International Conference on Systems Biology (ICSB), 22-28 August, 2008

Susanna-Assunta Sansone
www.ebi.ac.uk/net-project
Rationale for developing ISA

 Researchers and bioinformaticians in both
academic and commercial arenas, along with
funding agencies and publishers, embrace
the concept that community-developed
standards are pivotal to structure and enrich
the annotation of
• entities of interest (e.g., genes,
metabolites, phenotypes) and
• experimental steps (e.g., provenance of
study materials, technology and
measurement types)
Rationale for developing ISA







Capture all salient features of
the experimental workflow
Make annotation explicit and
discoverable
Support data provenance
tracking
Use community standards
Rationale for developing ISA

transcriptomics

proteomics

genomics
A wealth of community, different norms and standards, e.g.:

allow data to flow from
one system to another

use the same word and
refer to the same ‘thing’

report the same core,
essential information

To track provenance of the information and ensure richness of data and experimental
metadata descriptions, to maximize sharing and reusability

Key challenges:
lack of coordination, fragmentation and uneven coverage
To compare and integrate data we need interoperable standards
epidemiology

plant biology

microbiology

Biologically-delineated
views of the world

Generic features (‘common core’)
- description of source biomaterial
- experimental design components
MS
Arrays

Gels
Columns

Scanning

transcriptomics

Arrays &
Scanning

proteomics

MS

Technologically-delineated
views of the world

NMR
FTIR
Columns

metabolomics
Mapping the landscape of standards, work in progress
See more at:

+ 303

Estimated

Source: MIBBI,
EQUATOR

Source: BioPortal

+ 130

+ 150

Databases,
annotation,
curation
tools

MAGE-Tab
GCDML

AAO
CHEBI

SRAxml

CML

SOFT
DICOM FASTA

GELML

MITAB

….

SEDML…

OBI

VO

PATO

ENVO

XAO

MzML

DO

….

MIAPA
MIRIAM

MIQAS

MIX

REMARK

MIGEN

MOD

SBRML

….

MIAME

TEDDY

PRO

BTO
IDO…

….

MIQE

MIAPE

CIMR
MIASE

….

CONSORT
MISFISHIE….

….
Dealing with fragmented standards for the experimental context

user community

The International Conference on Systems Biology (ICSB), 22-28 August, 2008

Susanna-Assunta Sansone
www.ebi.ac.uk/net-project
General-purpose, configurable format, designed to
support:
- several omics standards checklists, terminologies
- reference to CDISC SDTM file(s), and
- conversions to (a growing number of) other metadata
formats, used by public repositories
1
1

Create template(s) to fit the type of
experiments to be described
Create templates detailing the steps to be
reported for different investigations, complying
to community standards, e.g. configuring the
value(s) allowed for each field to be
• text (with/without regular expression testing),
• ontology terms,
• numbers etc.
We now have configurations for submission
to EBI repositories, complying to several
community standards.
1

Or describe, curate your experiment using a
desktop-based tool
Report and edit the description using this tool,
(also customized using the templates) with a
spreadsheet like look and feel, packed with
functionalities such as
• ontology search (access via
)
• term-tagging features
• import from spreadsheets etc…
1

Describe, curate your experiment with
geographically- distributed collaborators
Report and edit the description of the
investigation using customized Google
Spreadsheets (importing the ‘template’ created
by the ISA configurator) enabled with ontology
search and term-tagging features.
2
3
4
5
6
Data papers
•
•
•
•
•

New open-access, online-only publication for descriptions of scientifically valuable datasets
Only content type: Data Descriptor, narrative + structured parts
Initially focused on the life, environmental and biomedical sciences
Data Descriptor will be complementary to traditional research journals and data repositories
Designed to foster data sharing and reuse, and ultimately to accelerate scientific discovery
www.nature.com/scientificdata


A grass-root collaborative that works to facilitate collection, curation and
sharing of experiments using a common, structured representation of the
experiments that
•

transcends individual biological and technological domains and

•

can be ‘configured’ to implement (several of) the community standards


A grass-root collaborative that works to facilitate collection, curation and
sharing of experiments using a common, structured representation of the
experiments that
•

transcends individual biological and technological domains and

•

can be ‘configured’ to implement (several of) the community standards







environmental health
genomics
metabolomics
metagenomics
nanotechnology







proteomics
stem cell discovery
system biology
transcriptomics
toxicogenomics
Community involvement and uptake
1st ISA-Tab
workshop
2nd ISA-Tab
workshop

3rd ISA-Tab
workshop

User workshops/visits - start
Other tools
implement ISA-Tab

Core developments
Straw man
ISA-Tab spec

ISA software v1
Final ISA-Tab spec

2007

2008

1st public instance:
Harvard Stem Cell Growing number of
Discovery Engine systems starts to adopt
ISA framework
Conversions to
Pride-XML/SRA-XML/
MAGE-Tab

Database instance
at EBI

2009

2010

Links to
analysis tools
starts
RDF/OWL format starts

2011

2012

Publications

The ISA software suite:
supporting standards-

ISA chapter in : Open Source

compliant curation at the

Software in Life Science

community level

Research

OntoMaton: a Bioportal
powered ontology widget for
Google Spreadsheets.

Bioinformatics

Woodhead Publishing

Bioinformatics

2013
2012

2013

2013

2012

2013

Nanotechnology
Informatics Working Group

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ISA - a short overview - Dec 2013

  • 1. Overview of the ISA format and software suite Help researchers to curate, store, analyse, share and publish their experiments Susanna-Assunta Sansone, PhD (associate director, PI) Philippe Rocca-Serra, PhD (technical coordinator) Alejandra Gonzalez-Beltran, PhD (senior developer) Eamonn Maguire, DPhil candidate (senior developer) Pavlos Georgiou, MSc candidate (developer) and new team member to be recruited
  • 2. Focus on the experimental context and compliance to standards user community The International Conference on Systems Biology (ICSB), 22-28 August, 2008 Susanna-Assunta Sansone www.ebi.ac.uk/net-project
  • 3. Rationale for developing ISA  Researchers and bioinformaticians in both academic and commercial arenas, along with funding agencies and publishers, embrace the concept that community-developed standards are pivotal to structure and enrich the annotation of • entities of interest (e.g., genes, metabolites, phenotypes) and • experimental steps (e.g., provenance of study materials, technology and measurement types)
  • 4. Rationale for developing ISA     Capture all salient features of the experimental workflow Make annotation explicit and discoverable Support data provenance tracking Use community standards
  • 5. Rationale for developing ISA transcriptomics proteomics genomics
  • 6. A wealth of community, different norms and standards, e.g.: allow data to flow from one system to another use the same word and refer to the same ‘thing’ report the same core, essential information To track provenance of the information and ensure richness of data and experimental metadata descriptions, to maximize sharing and reusability Key challenges: lack of coordination, fragmentation and uneven coverage
  • 7. To compare and integrate data we need interoperable standards epidemiology plant biology microbiology Biologically-delineated views of the world Generic features (‘common core’) - description of source biomaterial - experimental design components MS Arrays Gels Columns Scanning transcriptomics Arrays & Scanning proteomics MS Technologically-delineated views of the world NMR FTIR Columns metabolomics
  • 8. Mapping the landscape of standards, work in progress See more at: + 303 Estimated Source: MIBBI, EQUATOR Source: BioPortal + 130 + 150 Databases, annotation, curation tools MAGE-Tab GCDML AAO CHEBI SRAxml CML SOFT DICOM FASTA GELML MITAB …. SEDML… OBI VO PATO ENVO XAO MzML DO …. MIAPA MIRIAM MIQAS MIX REMARK MIGEN MOD SBRML …. MIAME TEDDY PRO BTO IDO… …. MIQE MIAPE CIMR MIASE …. CONSORT MISFISHIE…. ….
  • 9.
  • 10. Dealing with fragmented standards for the experimental context user community The International Conference on Systems Biology (ICSB), 22-28 August, 2008 Susanna-Assunta Sansone www.ebi.ac.uk/net-project
  • 11. General-purpose, configurable format, designed to support: - several omics standards checklists, terminologies - reference to CDISC SDTM file(s), and - conversions to (a growing number of) other metadata formats, used by public repositories
  • 12. 1
  • 13. 1 Create template(s) to fit the type of experiments to be described Create templates detailing the steps to be reported for different investigations, complying to community standards, e.g. configuring the value(s) allowed for each field to be • text (with/without regular expression testing), • ontology terms, • numbers etc. We now have configurations for submission to EBI repositories, complying to several community standards.
  • 14. 1 Or describe, curate your experiment using a desktop-based tool Report and edit the description using this tool, (also customized using the templates) with a spreadsheet like look and feel, packed with functionalities such as • ontology search (access via ) • term-tagging features • import from spreadsheets etc…
  • 15.
  • 16. 1 Describe, curate your experiment with geographically- distributed collaborators Report and edit the description of the investigation using customized Google Spreadsheets (importing the ‘template’ created by the ISA configurator) enabled with ontology search and term-tagging features.
  • 17. 2
  • 18. 3
  • 19. 4
  • 20. 5
  • 21. 6
  • 23. • • • • • New open-access, online-only publication for descriptions of scientifically valuable datasets Only content type: Data Descriptor, narrative + structured parts Initially focused on the life, environmental and biomedical sciences Data Descriptor will be complementary to traditional research journals and data repositories Designed to foster data sharing and reuse, and ultimately to accelerate scientific discovery www.nature.com/scientificdata
  • 24.  A grass-root collaborative that works to facilitate collection, curation and sharing of experiments using a common, structured representation of the experiments that • transcends individual biological and technological domains and • can be ‘configured’ to implement (several of) the community standards
  • 25.  A grass-root collaborative that works to facilitate collection, curation and sharing of experiments using a common, structured representation of the experiments that • transcends individual biological and technological domains and • can be ‘configured’ to implement (several of) the community standards      environmental health genomics metabolomics metagenomics nanotechnology      proteomics stem cell discovery system biology transcriptomics toxicogenomics
  • 26. Community involvement and uptake 1st ISA-Tab workshop 2nd ISA-Tab workshop 3rd ISA-Tab workshop User workshops/visits - start Other tools implement ISA-Tab Core developments Straw man ISA-Tab spec ISA software v1 Final ISA-Tab spec 2007 2008 1st public instance: Harvard Stem Cell Growing number of Discovery Engine systems starts to adopt ISA framework Conversions to Pride-XML/SRA-XML/ MAGE-Tab Database instance at EBI 2009 2010 Links to analysis tools starts RDF/OWL format starts 2011 2012 Publications The ISA software suite: supporting standards- ISA chapter in : Open Source compliant curation at the Software in Life Science community level Research OntoMaton: a Bioportal powered ontology widget for Google Spreadsheets. Bioinformatics Woodhead Publishing Bioinformatics 2013