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ISA tools overview Alejandra González-Beltrán, PhD Oxford e-Research Centre, University of Oxford [email protected] @alegonbel COPO kick-off meeting September 16, 2014 Norwich, UK

COPO kick-off meeting

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An overview of the ISA tools (http://isa-tools.org) presented at the COPO kick-off meeting in Norwich, UK, September 2014.

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ISA tools overview

Alejandra González-Beltrán, PhD Oxford e-Research Centre, University of [email protected] @alegonbel

COPO kick-off meeting September 16, 2014 Norwich, UK

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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

•  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

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

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Related Funded Project:

http://www.bbsrc.ac.uk/pa/grants/AwardDetails.aspx?FundingReference=BB/L024152/1

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

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Experimental Metadata

Notes in lab notebooks(information for humans)

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Experimental Metadata

Notes in lab notebooks(information for humans) Spreadsheets & tables

ISA-Tab

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Experimental Metadata

Notes in lab notebooks(information for humans) Spreadsheets & tables

ISA-Tab

RDF statements(information for machines)

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Experimental Metadata

It is all about structuring experimental information to make it available to computers and software agents to enable:

! provenance tracking

assessment and evaluation accountability, reliability, trust, evidence

conservation, preservation, storage, archiving and mining

Notes in lab notebooks(information for humans) Spreadsheets & tables

ISA-Tab

RDF statements(information for machines)

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http://www.am

a-roch

ester.o

rg/W

P/wp-co

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t/up

load

s/20

13/01/three-pillars.png

Rocca-Serra et al, 2010!Bioinformatics!ISA software suite

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The format

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Why ISA format and Tools?

investigation

assay(s) assay(s)

data data

external files in native or other for-

mats

pointers to data file names/location

investigationhigh level concept to link related studies

studythe central unit, containing information on the subject under study, its characteristics and any treatments applied.a study has associated assays

assaytest 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

33 Years

H. Sapiens

H. Sapiens

H. Sapiens

H1

H1

H2

35

35

33

Years

Years

Years

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

ISA metadata specifications:!• workflow and process orientated• compatible with checklist enforcement• compatible with external vocabulary resources• compatible by design with existing schemas!

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The software suite

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Personalized NSAID Therapeutics Consortium [PENTACON]https://pentacon-bii.princeton.edu/

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investigation studies assays

measurement technology

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https://github.com/ISA-tools/ISATab-ViewerISA-Tab Viewer

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ISA-Tab validation

ISA-Tab to

SRAconversion

Submission to ENA

ISA-Tab creation

(SRA-xml schema)

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The community

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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

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funders

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Questions?You can email us...

[email protected]

View our blog http://isatools.wordpress.com

Follow us on Twitter @isatools

View our websites

View our Git repo & contribute http://github.com/ISA-tools

Thanks for your attention!