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: a community-driven

customizable gene annotation portal
                Chunlei Wu, Ph.D.

           The Scripps Research Institute
                    La Jolla, CA


                    ISMB2012
                   July 17, 2012
: a community-driven

customizable gene annotation portal
                Chunlei Wu, Ph.D.

           The Scripps Research Institute
                    La Jolla, CA


                    ISMB2012
                   July 17, 2012
3
High-throughput molecular profiling is powerful




                                    Testable
                                   hypothesis
4
Gene databases are numerous and overlapping




                            … and hundreds
                               more …
5
Why is there so much redundancy?

                         Users

                  Requests



                                     Community
                                    development


                                    Resources

                             Time




        BioGPS emphasizes community extensibility
6
Why do developers define the gene report view?




           BioGPS emphasizes user customizability
7

BioGPS: User customizability

           Websites display content for a “typical” user
      Solution: Users should individually decide relevant
                            content


Structural biologist     Geneticist       System Biologist




 BioGPS                BioGPS              BioGPS
          NCBI          eQTL      dbSNP     Expression   KEGG
  PDB
                        Genome
          PFAM          Browser   MGI          GeneCards
8
Community extensibility and user customizability




                 http://biogps.org
9
The plugin interface is simple and universal


Pubmed
   http://www.ncbi.nlm.nih.gov/sites/entrez?...&Term={{Symbol}}


STRING
   http://string-db.org/newstring_cgi?...&identifier={{EnsemblGene}}


 KEGG
   http://www.genome.jp/dbget-bin/www_bget?hsa:{{EntrezGene}}




           URL template
                                        Rendered URL
              Gene entity
10
The plugin interface is simple and universal
11
The plugin interface is simple and universal
12
The plugin interface is simple and universal
13
The plugin interface is simple and universal
14
The plugin interface is simple and universal
15
“Expression Chart” plugin
                                NCBI GEO:




                            Loaded >2000 GEO datasets
16
Success depends on a positive feedback loop

                  Resource-sharing utility




                              1   100
                          2             200




    Number of                                 Number of
   contributors                                 users
17
Evaluating the BioGPS positive feedback loop




                          Utility




                                    Users

                 Contributors


            Utility defined by user customizability and
         simple visualization of Gene Expression data
18
BioGPS has a critical mass of users
           Utility




                     Users
    Contributors




                                  Top 10 organizations
                             1.     Harvard     6. Stanford
                             2.     NIH         7. UCSF
                             3.     Scripps     8. U Penn
                             4.     UCSD        9. Wash U
                             5.     MIT         10. UNC
19
Explicit and implicit community contributions
      Utility




                Users
Contributors




       478 plugins registered
       (~300 publicly shared)

          by over 100 users

      spanning 150+ domains
20

Community participation scales with
      community usage

                  Users

           Requests



                             Community
                             participation


                             Resources

                      Time
21
Summary




          • Easy access to resources
            you already know about
          • Discover resources you
            don’t know about
Gene annotation web services



           http://MyGene.Info

            Two principles:
              – Simplicity

              – Performance
Gene Query Service
   user query  matching gene IDs/symbols/names
               (JSON output)

  http://mygene.info/query?q=<query>


Examples:
   http://mygene.info/query?q=cdk2
   http://mygene.info/query?q=cdk2+AND+species:human
   http://mygene.info/query?q=cdk?
   http://mygene.info/query?q=p*
   http://mygene.info/query?q=entrezgene:1017
   http://mygene.info/query?q=ensemblgene:ENSG00000123374
Gene Annotation Service
    gene id  full or filtered gene annotation object
             (JSON output)


  http://mygene.info/gene/<geneid>


 Examples:
    http://mygene.info/gene/1017
    http://mygene.info/gene/ENSG00000123374
    http://mygene.info/gene/1017?filter=name,symbol,summary
    http://mygene.info/gene/1017?filter=name,symbol,refseq.rna




 Nice species supported: human, mouse, rat, fruitfly, nematode,
                         zebrafish, thale cress, frog.
Targeted use case:
   Quickly build a gene-centric online resource without
   the need of maintaining a local gene annotation
   database
 Use it in a web application:
   Server side
          - Making direct HTTP calls
   Client side
           - Setup a server-side proxy
          - JSONP calls
          - Cross-domain AJAX calls via CORS (Cross-Origin Resource Sharing)


         Demo and full documentation at
                 http://mygene.info
         Source code: https://bitbucket.org/newgene/genedoc/src
26
A use case: gene query autocomplete widget:




 <html>
 <body>
 <label for="gene_query">Enter a gene here: </label>
 <input style="width:250px" class="mygene_query_target">
 <script src="http://mygene.info/widget/autocomplete/js/mygene_query_min.js"
 type="text/javascript"></script>
 </body>
 </html>



             http://mygene.info/doc/widget/autocomplete
27
Group member

Andrew Su (Head)

Ian Macleod

Benjamin Good
Eric Clarke
Salvatore Loguercio

Past contributors     BioGPS Users              ISMB travel support

Marc Leglise
Jon Huss
Camilo Orozco
Jeff Janes
Serge Batalov




                          Funding and Support

                          BioGPS: GM083924
28

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Community-Driven Gene Annotation Portal

  • 1. : a community-driven customizable gene annotation portal Chunlei Wu, Ph.D. The Scripps Research Institute La Jolla, CA ISMB2012 July 17, 2012
  • 2. : a community-driven customizable gene annotation portal Chunlei Wu, Ph.D. The Scripps Research Institute La Jolla, CA ISMB2012 July 17, 2012
  • 3. 3 High-throughput molecular profiling is powerful Testable hypothesis
  • 4. 4 Gene databases are numerous and overlapping … and hundreds more …
  • 5. 5 Why is there so much redundancy? Users Requests Community development Resources Time BioGPS emphasizes community extensibility
  • 6. 6 Why do developers define the gene report view? BioGPS emphasizes user customizability
  • 7. 7 BioGPS: User customizability Websites display content for a “typical” user Solution: Users should individually decide relevant content Structural biologist Geneticist System Biologist BioGPS BioGPS BioGPS NCBI eQTL dbSNP Expression KEGG PDB Genome PFAM Browser MGI GeneCards
  • 8. 8 Community extensibility and user customizability http://biogps.org
  • 9. 9 The plugin interface is simple and universal Pubmed http://www.ncbi.nlm.nih.gov/sites/entrez?...&Term={{Symbol}} STRING http://string-db.org/newstring_cgi?...&identifier={{EnsemblGene}} KEGG http://www.genome.jp/dbget-bin/www_bget?hsa:{{EntrezGene}} URL template Rendered URL Gene entity
  • 10. 10 The plugin interface is simple and universal
  • 11. 11 The plugin interface is simple and universal
  • 12. 12 The plugin interface is simple and universal
  • 13. 13 The plugin interface is simple and universal
  • 14. 14 The plugin interface is simple and universal
  • 15. 15 “Expression Chart” plugin NCBI GEO: Loaded >2000 GEO datasets
  • 16. 16 Success depends on a positive feedback loop Resource-sharing utility 1 100 2 200 Number of Number of contributors users
  • 17. 17 Evaluating the BioGPS positive feedback loop Utility Users Contributors Utility defined by user customizability and simple visualization of Gene Expression data
  • 18. 18 BioGPS has a critical mass of users Utility Users Contributors Top 10 organizations 1. Harvard 6. Stanford 2. NIH 7. UCSF 3. Scripps 8. U Penn 4. UCSD 9. Wash U 5. MIT 10. UNC
  • 19. 19 Explicit and implicit community contributions Utility Users Contributors 478 plugins registered (~300 publicly shared) by over 100 users spanning 150+ domains
  • 20. 20 Community participation scales with community usage Users Requests Community participation Resources Time
  • 21. 21 Summary • Easy access to resources you already know about • Discover resources you don’t know about
  • 22. Gene annotation web services http://MyGene.Info Two principles: – Simplicity – Performance
  • 23. Gene Query Service user query  matching gene IDs/symbols/names (JSON output) http://mygene.info/query?q=<query> Examples: http://mygene.info/query?q=cdk2 http://mygene.info/query?q=cdk2+AND+species:human http://mygene.info/query?q=cdk? http://mygene.info/query?q=p* http://mygene.info/query?q=entrezgene:1017 http://mygene.info/query?q=ensemblgene:ENSG00000123374
  • 24. Gene Annotation Service gene id  full or filtered gene annotation object (JSON output) http://mygene.info/gene/<geneid> Examples: http://mygene.info/gene/1017 http://mygene.info/gene/ENSG00000123374 http://mygene.info/gene/1017?filter=name,symbol,summary http://mygene.info/gene/1017?filter=name,symbol,refseq.rna Nice species supported: human, mouse, rat, fruitfly, nematode, zebrafish, thale cress, frog.
  • 25. Targeted use case: Quickly build a gene-centric online resource without the need of maintaining a local gene annotation database Use it in a web application: Server side - Making direct HTTP calls Client side - Setup a server-side proxy - JSONP calls - Cross-domain AJAX calls via CORS (Cross-Origin Resource Sharing) Demo and full documentation at http://mygene.info Source code: https://bitbucket.org/newgene/genedoc/src
  • 26. 26 A use case: gene query autocomplete widget: <html> <body> <label for="gene_query">Enter a gene here: </label> <input style="width:250px" class="mygene_query_target"> <script src="http://mygene.info/widget/autocomplete/js/mygene_query_min.js" type="text/javascript"></script> </body> </html> http://mygene.info/doc/widget/autocomplete
  • 27. 27 Group member Andrew Su (Head) Ian Macleod Benjamin Good Eric Clarke Salvatore Loguercio Past contributors BioGPS Users ISMB travel support Marc Leglise Jon Huss Camilo Orozco Jeff Janes Serge Batalov Funding and Support BioGPS: GM083924
  • 28. 28

Hinweis der Redaktion

  1. next gen sequencing identifies candidate genesAlso Microarray data, proteomics, GWAS, methylation, post-translational modifications, translocation detection, etc.What do these genes do?
  2. Developer resources do not scale with usagePractical effects:Core developers’ time is always the rate-limiting step Addition of new features and data always feels slowEventually, new databases are created to fill the gap80% duplication for 20% innovation
  3. The second design principle is “user customizability”. Websites display content for a “typical” user Users have different needs BioGPS allows users to personalize their own gene annotation report. We call each resources as a pluginThe second design principle is “user customizability”. Typically, websites defines what they think user should know about a gene. But users should individually decide what content is relevant, because researchers from different areas need to know the different aspect of the gene annotation,….. BioGPS allows users to personalize a gene annotation report based what they think is the most relevant.
  4. MODs and portals
  5. Genetics resources
  6. Literature resources
  7. Protein resources
  8. Pathway and expression databases