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GENOMICS
   APPLICATIONS
   PLATFORM



  Misha Kapushesky, CEO

Wednesday, 10 April 13
OUR DREAM

                           universal platform for
                         bioinformatics application
                               development



Wednesday, 10 April 13
WHAT’S A PLATFORM?
                         Application Development Framework
                                                  ...

                •        APIs & SDK           •   Security Model
                •        Components           •   Data Model
                •        Deployment           •   Storage & Compute

                              Why do I need a platform?

Wednesday, 10 April 13
ALL THIS
       file management                       storage and
     with strong metadata                  compute engine


                                              data visualisation
 public data sets
                                               tools & libraries


        target multiple tools              SDK with APIs &
           and languages                     data model


Wednesday, 10 April 13
OUR PLATFORM
                    •    SDK and APIs for developing computational and
                         interactive apps
                    •    cloud-based virtual file system for data storage
                         and sharing
                    •    format-independent object model for functional
                         genomics data types
                    •    free pre-loaded curated public datasets and
                         integrated core NGS tools




Wednesday, 10 April 13
KEY FEATURES
                   DATA MODEL

         •      Files are (ОО) classes
         •      Everything is a file
         •      A file is > a file
         •      Files are everywhere
         •      Files can be initialised


Wednesday, 10 April 13
DATA MANAGEMENT

        •      Simple model
        •      Flexible metadata
        •      Powerful search
        •      Built-in sharing



Wednesday, 10 April 13
ORGANISATIONS
                         GROUPS & USERS
          SECURITY MODEL




Wednesday, 10 April 13
ORGANISATIONS
                         GROUPS & USERS
          SECURITY MODEL




Wednesday, 10 April 13
ORGANISATIONS
                         GROUPS & USERS
          SECURITY MODEL




Wednesday, 10 April 13
ORGANISATIONS
                         GROUPS & USERS
          SECURITY MODEL




Wednesday, 10 April 13
GENOMICS APPS
                         NGS QC
                                    Genome Browser




                         Aligners




Wednesday, 10 April 13
GENOME BROWSER
                                •   Never need to save
                                •   Pages are files
                                •   Sticky notes and rulers
                                •   Formula tracks
                                •   Extensible




Wednesday, 10 April 13
WRITING AN APP
                    •    Computational: Python, R, binary
                    •    Interactive: Java + Javascript
                    •    Application versioning, test framework, OO model

             public class SimpleApplication extends Application implements IFileApplication {
               @Override
               public boolean accepts(IFile ... files) {
                   return files.length == 1 && files[0] instanceof ISequencingAssay;
               }

                 public List<SequenceRead> head(final String accession, final int n) {
                   final ISequencingAssay assay = getFileSystemFacade().getFileByAccession(accession,
                          ISequencingAssay.class, true);
                   return assay.head(n);
                 }
             }                                                                                  Java
Wednesday, 10 April 13
ROLL YOUR OWN
           function head(n) {
              G$.invokeMethod('head', [G$.accession, n], function(reads) {
                  $.each(reads, function(i, read) {
                      var readDiv = $('<div class="well"/>');
                      var spark = $('<div/>');
                      $('#display').append(readDiv);
                      readDiv.append('<pre>' + read.sequences[0].sequence + '</pre>');
                      readDiv.prepend(spark);
                      var q = phredToNumeric(read.sequences[0].quality);
                      spark.sparkline(q, {type: 'line', width: '500px', height: '2em'});
                  });
              });
           }                                                                          Javascript


Wednesday, 10 April 13
ROLL YOUR OWN
           function head(n) {
              G$.invokeMethod('head', [G$.accession, n], function(reads) {
                  $.each(reads, function(i, read) {
                      var readDiv = $('<div class="well"/>');
                      var spark = $('<div/>');
                      $('#display').append(readDiv);
                      readDiv.append('<pre>' + read.sequences[0].sequence + '</pre>');
                      readDiv.prepend(spark);
                      var q = phredToNumeric(read.sequences[0].quality);
                      spark.sparkline(q, {type: 'line', width: '500px', height: '2em'});
                  });
              });
           }                                                                          Javascript


Wednesday, 10 April 13
ROLL YOUR OWN
           function head(n) {
              G$.invokeMethod('head', [G$.accession, n], function(reads) {
                  $.each(reads, function(i, read) {
                      var readDiv = $('<div class="well"/>');
                      var spark = $('<div/>');
                      $('#display').append(readDiv);
                      readDiv.append('<pre>' + read.sequences[0].sequence + '</pre>');
                      readDiv.prepend(spark);
                      var q = phredToNumeric(read.sequences[0].quality);
                      spark.sparkline(q, {type: 'line', width: '500px', height: '2em'});
                  });
              });
           }                                                                          Javascript


Wednesday, 10 April 13
MORE ON APPS
                    •    Quick resource allocation and scheduling
                    •    Format conversion on demand
                    •    Isolated deployment infrastructure
                    •    Secure app delivery to end-user
                    •    Detailed event logging
                    •    Every method in your app is an API endpoint
                    •    Love and support from Genestack team


Wednesday, 10 April 13
PUBLIC DATA
             Different technologies, different contexts, aim
             for correct minimal metadata and full data
             •       Expression – RNA-seq & Arrays
             •       Genotypes – WGS, Exome, SNP Chips
             •       Epigenetics – ChIP-seq, ChIP-chip, etc.
             •       Microbial genomes
             •       1000 Genomes, ENCODE, GEUVADIS


Wednesday, 10 April 13
GETTING STARTED
                    •    Genestack Platform Alpha is out today
                    •    Completely free for alpha users,
                         discounted rates for early adopters
                    •    Full platform user access
                    •    Developer access coming soon

                             https://alpha.genestack.com


Wednesday, 10 April 13
LOADING DATA

                  •      Data transfer APIs and app
                  •      Import from disk (shipped)
                  •      Direct link to the cloud




Wednesday, 10 April 13
OUR MODEL
                Create as many accounts as you want
            Pay for storage and CPU credits: fixed or PAYG
               All public datasets are completely free




Wednesday, 10 April 13
WHERE DO I START?




                                          Sign up now to test the platform
                                             Genestack Platform Alpha
                                               alpha.genestack.com

 Follow us: @genestackltd, genestack.com/blog

Wednesday, 10 April 13

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Genestack BioIT-World-2013

  • 1. GENOMICS APPLICATIONS PLATFORM Misha Kapushesky, CEO Wednesday, 10 April 13
  • 2. OUR DREAM universal platform for bioinformatics application development Wednesday, 10 April 13
  • 3. WHAT’S A PLATFORM? Application Development Framework ... • APIs & SDK • Security Model • Components • Data Model • Deployment • Storage & Compute Why do I need a platform? Wednesday, 10 April 13
  • 4. ALL THIS file management storage and with strong metadata compute engine data visualisation public data sets tools & libraries target multiple tools SDK with APIs & and languages data model Wednesday, 10 April 13
  • 5. OUR PLATFORM • SDK and APIs for developing computational and interactive apps • cloud-based virtual file system for data storage and sharing • format-independent object model for functional genomics data types • free pre-loaded curated public datasets and integrated core NGS tools Wednesday, 10 April 13
  • 6. KEY FEATURES DATA MODEL • Files are (ОО) classes • Everything is a file • A file is > a file • Files are everywhere • Files can be initialised Wednesday, 10 April 13
  • 7. DATA MANAGEMENT • Simple model • Flexible metadata • Powerful search • Built-in sharing Wednesday, 10 April 13
  • 8. ORGANISATIONS GROUPS & USERS SECURITY MODEL Wednesday, 10 April 13
  • 9. ORGANISATIONS GROUPS & USERS SECURITY MODEL Wednesday, 10 April 13
  • 10. ORGANISATIONS GROUPS & USERS SECURITY MODEL Wednesday, 10 April 13
  • 11. ORGANISATIONS GROUPS & USERS SECURITY MODEL Wednesday, 10 April 13
  • 12. GENOMICS APPS NGS QC Genome Browser Aligners Wednesday, 10 April 13
  • 13. GENOME BROWSER • Never need to save • Pages are files • Sticky notes and rulers • Formula tracks • Extensible Wednesday, 10 April 13
  • 14. WRITING AN APP • Computational: Python, R, binary • Interactive: Java + Javascript • Application versioning, test framework, OO model public class SimpleApplication extends Application implements IFileApplication { @Override public boolean accepts(IFile ... files) { return files.length == 1 && files[0] instanceof ISequencingAssay; } public List<SequenceRead> head(final String accession, final int n) { final ISequencingAssay assay = getFileSystemFacade().getFileByAccession(accession, ISequencingAssay.class, true); return assay.head(n); } } Java Wednesday, 10 April 13
  • 15. ROLL YOUR OWN function head(n) { G$.invokeMethod('head', [G$.accession, n], function(reads) { $.each(reads, function(i, read) { var readDiv = $('<div class="well"/>'); var spark = $('<div/>'); $('#display').append(readDiv); readDiv.append('<pre>' + read.sequences[0].sequence + '</pre>'); readDiv.prepend(spark); var q = phredToNumeric(read.sequences[0].quality); spark.sparkline(q, {type: 'line', width: '500px', height: '2em'}); }); }); } Javascript Wednesday, 10 April 13
  • 16. ROLL YOUR OWN function head(n) { G$.invokeMethod('head', [G$.accession, n], function(reads) { $.each(reads, function(i, read) { var readDiv = $('<div class="well"/>'); var spark = $('<div/>'); $('#display').append(readDiv); readDiv.append('<pre>' + read.sequences[0].sequence + '</pre>'); readDiv.prepend(spark); var q = phredToNumeric(read.sequences[0].quality); spark.sparkline(q, {type: 'line', width: '500px', height: '2em'}); }); }); } Javascript Wednesday, 10 April 13
  • 17. ROLL YOUR OWN function head(n) { G$.invokeMethod('head', [G$.accession, n], function(reads) { $.each(reads, function(i, read) { var readDiv = $('<div class="well"/>'); var spark = $('<div/>'); $('#display').append(readDiv); readDiv.append('<pre>' + read.sequences[0].sequence + '</pre>'); readDiv.prepend(spark); var q = phredToNumeric(read.sequences[0].quality); spark.sparkline(q, {type: 'line', width: '500px', height: '2em'}); }); }); } Javascript Wednesday, 10 April 13
  • 18. MORE ON APPS • Quick resource allocation and scheduling • Format conversion on demand • Isolated deployment infrastructure • Secure app delivery to end-user • Detailed event logging • Every method in your app is an API endpoint • Love and support from Genestack team Wednesday, 10 April 13
  • 19. PUBLIC DATA Different technologies, different contexts, aim for correct minimal metadata and full data • Expression – RNA-seq & Arrays • Genotypes – WGS, Exome, SNP Chips • Epigenetics – ChIP-seq, ChIP-chip, etc. • Microbial genomes • 1000 Genomes, ENCODE, GEUVADIS Wednesday, 10 April 13
  • 20. GETTING STARTED • Genestack Platform Alpha is out today • Completely free for alpha users, discounted rates for early adopters • Full platform user access • Developer access coming soon https://alpha.genestack.com Wednesday, 10 April 13
  • 21. LOADING DATA • Data transfer APIs and app • Import from disk (shipped) • Direct link to the cloud Wednesday, 10 April 13
  • 22. OUR MODEL Create as many accounts as you want Pay for storage and CPU credits: fixed or PAYG All public datasets are completely free Wednesday, 10 April 13
  • 23. WHERE DO I START? Sign up now to test the platform Genestack Platform Alpha alpha.genestack.com Follow us: @genestackltd, genestack.com/blog Wednesday, 10 April 13