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bioscience
The ISA Commons: experiences from! field
                                  the

                    Susanna-Assunta Sansone, PhD

                      Principal Investigator, Team Leader,
                   University of Oxford e-Research Centre,
                                     Oxford, UK

                      http://uk.linkedin.com/in/sasansone
                                    #biosharing

                             DataCite Summer Meeting
  DIGITAL RESEARCH DATA IN PRACTICE: solutions for improving discovery, access and use
                            June 14, 2012 Copenhagen
•  Reproducible research
    •  annotated research data and methods offer new
       discovery opportunities and prevent unnecessary
       repetition of work;
    •  improved data sharing underpins science of the future;
    •  but !.. shared data have little or no value if they are
       not interpretable and, consequently, reusable



                                                Image from datacite.org
Reproducibility



                  Ioannidis et al., Repeatability of published microarray
                  gene expression analyses. Nature Genetics 41(2),
                             3!
                  149-55 (2009) doi:10.1038/ng.295
Reproducibility



                  Ioannidis et al., Repeatability of published microarray
                  gene expression analyses. Nature Genetics 41(2),
                             4!
                  149-55 (2009) doi:10.1038/ng.295
Reproducibility



                  Ioannidis et al., Repeatability of published microarray
                  gene expression analyses. Nature Genetics 41(2),
                             5!
                  149-55 (2009) doi:10.1038/ng.295
Reproducibility



                       6!



                  6!
Across studies
 and groups



                      7!



                 7!
Reproducibility



                       8!



                  8!
NO to ‘data blobs’

YES to verifiable, complete
and structured information



                             Image from datacite.org
Structured description of datasets




                       !  Capture all salient features
                          of the experimental workflow
                       !  Make annotation explicit and
                          discoverable
                       !  Structure the descriptions
                          for consistency, tracking
                           !  independent variables
                           !  dependent variables
                           using
                           !  cross reference and
                               resolvable identifiers
Not too much, not too little, just ‘right’




                          !  We must strike a balance
                             between
                              •  depth and breadth of
                                 information; and
                              •  sufficient information
                                 required to reuse the data
Example of experiments by
                                                                                                     InnoMed PredTox
12   The International Conference on Systems Biology (ICSB), 22-28 August, 2008                      a FP6 public-private consortium
                                                                                  Susanna-Assunta Sansone
                                                                                    www.ebi.ac.uk/net-project
Different community, different norms and standards, e.g.:




                                   use the same word and
         allow data to flow from                               report the same core,
                                   refer to the same ‘thing’
         one system to another                                 essential information




  Challenges: lack of coordination, fragmentation and uneven coverage
Growing number of reporting standards
                                                      + 303




                                                                                   + 150
                          + 130




                                                                                           Source: MIBBI,
                                                              Source: BioPortal




                                                                                                  EQUATOR
                                  Estimated




                       MAGE-Tab!                AAO!                              MIAME!
                     GCDML!                                                           MIAPA!
                                                   CHEBI!
                       SRAxml!                  OBI!                              MIRIAM!
                                                     VO!
             SOFT!                                                                         MIQAS!
                   FASTA!                     PATO!                                  MIX!
      CML!                                              ENVO!                                     REMARK!
               DICOM!                                                                   MIGEN!
     GELML!                                    MOD!
                 SBRML!                                                              MIAPE!                 MIQE!
                                                     TEDDY!
 MITAB!     MzML!                             XAO!                                           CIMR! CONSORT!
                                                          BTO!
ISA-Tab! SEDML…!             DO                PRO!       IDO…!                            MIASE! MISFISHIE….!
A catalogue to map the
                                                                                  landscape of standards and the
                                                                                  systems implementing them:
                                                                                  Over 400 bio-standards
                                                                                  (public and in curation)
                                                                                        Field*, Sansone* et al., Omics data sharing. Science
15   The International Conference on Systems Biology (ICSB), 22-28 August, 2008   Susanna-Assunta Sansone
                                                                                        326, 234-36 (2009) doi:0.1126/science.1180598
                                                                                    www.ebi.ac.uk/net-project
A catalogue to map the
                                                                                  landscape of standards and the
                                                                                  systems implementing them:
                                                                                  Over 400 bio-standards
                                                                                  (public and in curation)
                                                                                        Field*, Sansone* et al., Omics data sharing. Science
16   The International Conference on Systems Biology (ICSB), 22-28 August, 2008   Susanna-Assunta Sansone
                                                                                        326, 234-36 (2009) doi:0.1126/science.1180598
                                                                                    www.ebi.ac.uk/net-project
Bioscience is not one domain!




                                                                &+'.!&*




                 +,-*                                                     '/("*


                                !"#$%&'()'*

!  Bioscience is interdisciplinary and integrative in character
    •  need to deal with new and existing datasets
    •  deal with a variety of data types
                                              Source of the figure: EBI website
Is it possible to achieve a common, structured
representation of diverse bioscience experiments that:
•  transcends individual bioscience domains, but also
•  follows the appropriate community norms and
   standards?
A growing ecosystem of over 30 public and internal resources
         using the ISA metadata tracking framework to facilitate standards-
         compliant collection, curation, management and reuse of
         investigations in an increasingly diverse set of life science domains,
         including:
         •  environmental health         •  stem cell discovery
         •  environmental genomics       •  system biology
         •  metabolomics                 •  transcriptomics
         •  metagenomics                 •  toxicogenomics
         •  nanotechnology               •  also by communities working to build
         •  proteomics,                     a library of cellular signatures




      We aim to achieve a common
representation of experimental content that
transcends individual bioscience domains

                                                 Sansone et al., Towards interoperable
                                                 bioscience data. Nature Genetics 44,
                                                 121-126 (2012) doi:10.1038/ng.1054
A growing ecosystem of over 30 public and internal resources
                          using the ISA metadata tracking framework to facilitate standards-
                          compliant collection, curation, management and reuse of
                          investigations in an increasingly diverse set of life science domains,
                          including:
                          •  environmental health         •  stem cell discovery
                          •  environmental genomics       •  system biology
                          •  metabolomics                 •  transcriptomics
                          •  metagenomics                 •  toxicogenomics
                          •  nanotechnology               •  also by communities working to build
                          •  proteomics                      a library of cellular signatures


                      Some of the public groups/resources:                Some of the internal projects:




                                    Stem Cell Commons




  Nanotechnology
Informatics Working
      Group
A growing ecosystem of over 30 public and internal resources
                          using the ISA metadata tracking framework to facilitate standards-
                          compliant collection, curation, management and reuse of
                          investigations in an increasingly diverse set of life science domains,
                          including:
                          •  environmental health         •  stem cell discovery
                          •  environmental genomics       •  system biology
                          •  metabolomics                 •  transcriptomics
                          •  metagenomics                 •  toxicogenomics
                          •  nanotechnology               •  also by communities working to build
                          •  proteomics                      a library of cellular signatures


                      Some of the public groups/resources:                Some of the internal projects:




                                    Stem Cell Commons




  Nanotechnology
Informatics Working
      Group
Metadata tracking framework, designed to
support the use us several standards
checklists, terminologies conversions to
(a growing number of) other metadata
formats, used by public repositories, e.g.

      MAGE-Tab     Pride-xml

                      SRA-xml      SOFT


Currently finalizing conversion to RDF to
explore the growing Linked Data universe,
in collaboration with the W3C HCLSIG)
empowering researchers to use standards




                                                                                                        To mint DOIs




23   The International Conference on Systems Biology (ICSB), 22-28 August, 2008   Susanna-Assunta Sansone
                                                                                    www.ebi.ac.uk/net-project
TOWARDS INTEROPERABLE BIOSCIENCE DATA                                               doi:10.1038/ng.1054

               Sansone SA, Rocca-Serra P, Field D, Maguire E, Taylor C, Hofmann O, Fang H, Neumann
               S, Tong W, Amaral-Zettler L, Begley K, Booth T, Bougueleret L, Burns G, Chapman B,
               Clark T, Coleman LA, Copeland J, Das S, de Daruvar A, de Matos P, Dix I, Edmunds S,
               Evelo C, Forster M, Gaudet P, Gilbert J, Goble C, Griffin J, Jacob D, Kleinjans J, Harland
               L, Haug K, Hermjakob H, Sui S, Laederach A, Liang S, Marshall S, Merrill E, McGrath A,
  Feb 2012
               Reilly D, Roux M, Shamu C, Shang C, Steinbeck C, Trefethen A, Williams-Jones B,
 www.biosharing.org                                                   www.isacommons.org
               Wolstencroft K, Xenarios J, Hide W.         www.isacommons.org

Community involvement and uptake!

1st ISA-Tab workshop! 3rd ISA-Tab workshop!      User workshops/visits - start!   1st public instance: !                           !
       2nd ISA-Tab workshop!                              Other tools implement ! Harvard Stem Cell ! Growing number of
                                                          ISA-Tab!                Discovery Engine! systems starts to adopt
                                                                                                         ISA-Tab!


Core developments!
                                                                                  Conversions to !                Links to
                                                                                  Pride-XML/SRA-XML/!             analysis tools
Strawman ISA-Tab spec!                            ISA software v1!                MAGE-Tab and more!              starts!
                      Final ISA-Tab spec!            Database instance !
                                                     at EBI!                                      RDF format starts!

Publications!
                                                                                                       Stem Cell !
                                                                           ISA-Tab and !               Discovery ! ISA Commons!
                                               Omics data sharing!
            Workshop reports!                                              ISA software suite!         Engine!
                                              (Science)!                                                           (Nature Genetics)!
                                                                           (Bioinformatics)!           (NAR)!


2007    2008       2009                                              2010                        2011                    2012
Development timeline!

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Susanna Sansone at DataCite: The ISA-Commons - experiences from the field

  • 1. bioscience The ISA Commons: experiences from! field the Susanna-Assunta Sansone, PhD Principal Investigator, Team Leader, University of Oxford e-Research Centre, Oxford, UK http://uk.linkedin.com/in/sasansone #biosharing DataCite Summer Meeting DIGITAL RESEARCH DATA IN PRACTICE: solutions for improving discovery, access and use June 14, 2012 Copenhagen
  • 2. •  Reproducible research •  annotated research data and methods offer new discovery opportunities and prevent unnecessary repetition of work; •  improved data sharing underpins science of the future; •  but !.. shared data have little or no value if they are not interpretable and, consequently, reusable Image from datacite.org
  • 3. Reproducibility Ioannidis et al., Repeatability of published microarray gene expression analyses. Nature Genetics 41(2), 3! 149-55 (2009) doi:10.1038/ng.295
  • 4. Reproducibility Ioannidis et al., Repeatability of published microarray gene expression analyses. Nature Genetics 41(2), 4! 149-55 (2009) doi:10.1038/ng.295
  • 5. Reproducibility Ioannidis et al., Repeatability of published microarray gene expression analyses. Nature Genetics 41(2), 5! 149-55 (2009) doi:10.1038/ng.295
  • 7. Across studies and groups 7! 7!
  • 9. NO to ‘data blobs’ YES to verifiable, complete and structured information Image from datacite.org
  • 10. Structured description of datasets !  Capture all salient features of the experimental workflow !  Make annotation explicit and discoverable !  Structure the descriptions for consistency, tracking !  independent variables !  dependent variables using !  cross reference and resolvable identifiers
  • 11. Not too much, not too little, just ‘right’ !  We must strike a balance between •  depth and breadth of information; and •  sufficient information required to reuse the data
  • 12. Example of experiments by InnoMed PredTox 12 The International Conference on Systems Biology (ICSB), 22-28 August, 2008 a FP6 public-private consortium Susanna-Assunta Sansone www.ebi.ac.uk/net-project
  • 13. Different community, different norms and standards, e.g.: use the same word and allow data to flow from report the same core, refer to the same ‘thing’ one system to another essential information Challenges: lack of coordination, fragmentation and uneven coverage
  • 14. Growing number of reporting standards + 303 + 150 + 130 Source: MIBBI, Source: BioPortal EQUATOR Estimated MAGE-Tab! AAO! MIAME! GCDML! MIAPA! CHEBI! SRAxml! OBI! MIRIAM! VO! SOFT! MIQAS! FASTA! PATO! MIX! CML! ENVO! REMARK! DICOM! MIGEN! GELML! MOD! SBRML! MIAPE! MIQE! TEDDY! MITAB! MzML! XAO! CIMR! CONSORT! BTO! ISA-Tab! SEDML…! DO PRO! IDO…! MIASE! MISFISHIE….!
  • 15. A catalogue to map the landscape of standards and the systems implementing them: Over 400 bio-standards (public and in curation) Field*, Sansone* et al., Omics data sharing. Science 15 The International Conference on Systems Biology (ICSB), 22-28 August, 2008 Susanna-Assunta Sansone 326, 234-36 (2009) doi:0.1126/science.1180598 www.ebi.ac.uk/net-project
  • 16. A catalogue to map the landscape of standards and the systems implementing them: Over 400 bio-standards (public and in curation) Field*, Sansone* et al., Omics data sharing. Science 16 The International Conference on Systems Biology (ICSB), 22-28 August, 2008 Susanna-Assunta Sansone 326, 234-36 (2009) doi:0.1126/science.1180598 www.ebi.ac.uk/net-project
  • 17. Bioscience is not one domain! &+'.!&* +,-* '/("* !"#$%&'()'* !  Bioscience is interdisciplinary and integrative in character •  need to deal with new and existing datasets •  deal with a variety of data types Source of the figure: EBI website
  • 18. Is it possible to achieve a common, structured representation of diverse bioscience experiments that: •  transcends individual bioscience domains, but also •  follows the appropriate community norms and standards?
  • 19. A growing ecosystem of over 30 public and internal resources using the ISA metadata tracking framework to facilitate standards- compliant collection, curation, management and reuse of investigations in an increasingly diverse set of life science domains, including: •  environmental health •  stem cell discovery •  environmental genomics •  system biology •  metabolomics •  transcriptomics •  metagenomics •  toxicogenomics •  nanotechnology •  also by communities working to build •  proteomics, a library of cellular signatures We aim to achieve a common representation of experimental content that transcends individual bioscience domains Sansone et al., Towards interoperable bioscience data. Nature Genetics 44, 121-126 (2012) doi:10.1038/ng.1054
  • 20. A growing ecosystem of over 30 public and internal resources using the ISA metadata tracking framework to facilitate standards- compliant collection, curation, management and reuse of investigations in an increasingly diverse set of life science domains, including: •  environmental health •  stem cell discovery •  environmental genomics •  system biology •  metabolomics •  transcriptomics •  metagenomics •  toxicogenomics •  nanotechnology •  also by communities working to build •  proteomics a library of cellular signatures Some of the public groups/resources: Some of the internal projects: Stem Cell Commons Nanotechnology Informatics Working Group
  • 21. A growing ecosystem of over 30 public and internal resources using the ISA metadata tracking framework to facilitate standards- compliant collection, curation, management and reuse of investigations in an increasingly diverse set of life science domains, including: •  environmental health •  stem cell discovery •  environmental genomics •  system biology •  metabolomics •  transcriptomics •  metagenomics •  toxicogenomics •  nanotechnology •  also by communities working to build •  proteomics a library of cellular signatures Some of the public groups/resources: Some of the internal projects: Stem Cell Commons Nanotechnology Informatics Working Group
  • 22. Metadata tracking framework, designed to support the use us several standards checklists, terminologies conversions to (a growing number of) other metadata formats, used by public repositories, e.g. MAGE-Tab Pride-xml SRA-xml SOFT Currently finalizing conversion to RDF to explore the growing Linked Data universe, in collaboration with the W3C HCLSIG)
  • 23. empowering researchers to use standards To mint DOIs 23 The International Conference on Systems Biology (ICSB), 22-28 August, 2008 Susanna-Assunta Sansone www.ebi.ac.uk/net-project
  • 24. TOWARDS INTEROPERABLE BIOSCIENCE DATA doi:10.1038/ng.1054 Sansone SA, Rocca-Serra P, Field D, Maguire E, Taylor C, Hofmann O, Fang H, Neumann S, Tong W, Amaral-Zettler L, Begley K, Booth T, Bougueleret L, Burns G, Chapman B, Clark T, Coleman LA, Copeland J, Das S, de Daruvar A, de Matos P, Dix I, Edmunds S, Evelo C, Forster M, Gaudet P, Gilbert J, Goble C, Griffin J, Jacob D, Kleinjans J, Harland L, Haug K, Hermjakob H, Sui S, Laederach A, Liang S, Marshall S, Merrill E, McGrath A, Feb 2012 Reilly D, Roux M, Shamu C, Shang C, Steinbeck C, Trefethen A, Williams-Jones B, www.biosharing.org www.isacommons.org Wolstencroft K, Xenarios J, Hide W. www.isacommons.org Community involvement and uptake! 1st ISA-Tab workshop! 3rd ISA-Tab workshop! User workshops/visits - start! 1st public instance: ! ! 2nd ISA-Tab workshop! Other tools implement ! Harvard Stem Cell ! Growing number of ISA-Tab! Discovery Engine! systems starts to adopt ISA-Tab! Core developments! Conversions to ! Links to Pride-XML/SRA-XML/! analysis tools Strawman ISA-Tab spec! ISA software v1! MAGE-Tab and more! starts! Final ISA-Tab spec! Database instance ! at EBI! RDF format starts! Publications! Stem Cell ! ISA-Tab and ! Discovery ! ISA Commons! Omics data sharing! Workshop reports! ISA software suite! Engine! (Science)! (Nature Genetics)! (Bioinformatics)! (NAR)! 2007 2008 2009 2010 2011 2012 Development timeline!