SlideShare a Scribd company logo
1 of 12
Download to read offline
Background
                           Implementation
                          Software features
                                 Examples
                                 Summary




                                      Evoker:
           A visualization tool for genotype intensity data


James A. Morris 1 , Joshua C. Randall 2 , Julian B. Maller 2 and Jeffrey
                             C. Barrett 1

             1
                 Statistical and Computational Genetics research group,
                   Wellcome Trust Sanger Institute, Cambridge, UK.
                     2
                       Wellcome Trust Centre for Human Genetics,
                            University of Oxford, Oxford, UK.




                              James Morris    Evoker
Background
                           What are GWAS?
        Implementation
                           Quality control
       Software features
                           Evoker
              Examples
                           Data Challenges
              Summary



GWAS




          James Morris     Evoker
Background
                                                                                                                                   What are GWAS?
                                                                                                     Implementation
                                                                                                                                   Quality control
                                                                                                    Software features
                                                                                                                                   Evoker
                                                                                                           Examples
                                                                                                                                   Data Challenges
                                                                                                           Summary



Quality control

                                             Missingness and heterozygosity, by individual

                                                                                                                                    q


                                                                                                                               q

                                                                                                                                                     Rigorous quality control
                                  0.6




                                                                                                                           q qq
                                                                                                                             q



                                                                                                             q                                       (QC) procedures are
  Fraction of missing gentoypes

                                  0.5




                                                                                                                                                     essential in GWAS
                                                                                                                                                     Sources of false
                                  0.4




                                                                                              q q


                                                                 q
                                                                                 q
                                                                                          q                                                          positives include:
                                  0.3




                                                                     q
                                                                             q
                                                                                      q                                                                  Poor quality DNA
                                                                         q
                                                                                                                                                         Population structure
                                  0.2




                                                                       q    q     q
                                                           q q qq q q
                                                               qq               q
                                                                         q q
                                              q                qq
                                                              q q
                                                                 q
                                                                  q
                                                                  q
                                                                  q q q qq
                                                                          q q q
                                                                       qqq q
                                                                q q q qq qq q
                                                                   q qq q q
                                                                   qq
                                                                   qq
                                                                    q q qq
                                                                      q q
                                                                          q
                                                                          q
                                                                              q
                                                                              q
                                                                                                                                                         Hidden confounders
                                                                     qq q
                                                                  qq qq
                                                                     q
                                                                     q
                                                                     qqq
                                                                    qq
                                                                   qq q
                                                                                                                                                         Genotyping artifacts
                                  0.1




                                                                     q
                                                                    qq
                                                        q q qqq     q
                                                                   qq
                                                                   qq
                                                                  qq
                                                                  qq
                                                                   q
                                                                 qqq
                                                                  q
                                                          q qqq qqq
                                                                qqq
                                                                  qq
                                                                qq
                                                                 qq
                                                                 q
                                                             q qqq
                                                                qq
                                                  q           qq
                                                               qqq
                                                                 q
                                                              qq q
                                                               qq
                                                              qq
                                                     q        qq
                                                              qq
                                                              qq
                                                              q
                                                                 q
                                                             qq
                                                             qq
                                                             q
                                                            qq
                                                              q
                                                             qq
                                                              q
                                                              q
                                                             q
                                                             q
                                                           qqq
                                                           qq
                                                           qq
                                                           qqq
                                                          qqqqq q
                                                            qq
                                                            qq
                                                             q
                                                          qqq
                                                           qq
                                                          qqq
                                                         qqq
                                                           q
                                                        qqqqq
                                                         qqq
                                                          qq
                                                         qqq
                                                         qqq
                                                         qqq q
                                                        qqqqq
                                                       qqqqqq q
                                                           qq
                                                         qqq
                                                        qqqq
                                                        qqqq
                                                       qqqqqq
                                                           qq
                                                       qqqqqqq
                                                           qq
                                                           qq
                                                   q qqqqqq q q q
                                                          qq
                                                          qq
                                                          qq
                                                           qq
                                                     qqqqqqq q
                                                         qq q
                                                       qqqqq q
                                                           qq
                                                           qq
                                                         qqq
                                                         qqq
                                                          qq
                                  0.0




                                                         qqq
                                                          qq
                                                        qqqqq
                                                           qq
                                                      qqqqqq
                                                    qqqqqqqq q
                                                           q
                                                           q
                                                           qq
                                                         qqq
                                                          qq
                                                     qqqqqqqqq
                                                          qqq
                                                        qqq q
                                                          qq
                                                         qqq
                                                          qq
                                                          qq
                                                         qqq
                                                          qq
                                                           qq
                                                          qq
                                                         qqqq
                                                     qqqqqqqq q
                                                          qqqq
                                                       qqqq q
                                                          qq             qq
                                        qq
                                         q            qqqqqq
                                                   qqqqqqqq q q q
                                                          qq
                                                         qqq
                                                         qq
                                                         qqq
                                                           q
                                                           qq
                                                          qq
                                                        qqqqq
                                                          qq
                                                         qqq
                                                          qqq
                                                          q
                                                          qq
                                                         qqq
                                                         qq
                                                          qq
                                                          qq
                                                          qq
                                                          qq
                                                         qq q
                                                           qq
                                                          qqqq
                                                      qqqqq q
                                                         qqq
                                                           qq
                                                          qq
                                                           qq
                                                          qq
                                                          qq
                                                         qqqq
                                                          qqqq




                                        0.2                  0.3                      0.4           0.5          0.6     0.7

                                                                                     Mean heterozygosity
                                                                                                          James Morris             Evoker
Background
                                               What are GWAS?
                            Implementation
                                               Quality control
                           Software features
                                               Evoker
                                  Examples
                                               Data Challenges
                                  Summary



Evoker




         Evoker is an open source program for visualizing genotype intensity
         cluster plots
         Designed to be integrated into GWAS quality control workflows
         It provides a fast, user-friendly and interactive interface
         Evoker is a solution to the computational and storage problems
         related to working with such large datasets
                              James Morris     Evoker
Background
                                      What are GWAS?
                   Implementation
                                      Quality control
                  Software features
                                      Evoker
                         Examples
                                      Data Challenges
                         Summary



Data Challenges




                     James Morris     Evoker
Background
                          Implementation
                         Software features
                                Examples
                                Summary



Implementation



      Evoker is written in Java
      Utilizes helper scripts written in Perl
      Platform specific packages are available for:
          Mac
          Windows
          Linux




                            James Morris     Evoker
Background
                  Implementation
                                     Input features
                 Software features
                                     Interactive features
                        Examples
                        Summary



Input features




                    James Morris     Evoker
Background
                        Implementation
                                           Input features
                       Software features
                                           Interactive features
                              Examples
                              Summary



Interactive features




                          James Morris     Evoker
Background
                    Implementation
                   Software features
                          Examples
                          Summary



Using Evoker to confirm good genotype calls




                      James Morris     Evoker
Background
                      Implementation
                     Software features
                            Examples
                            Summary



Using Evoker to detect calling errors




                        James Morris     Evoker
Background
                    Implementation
                   Software features
                          Examples
                          Summary



Using Evoker to detect poor genotyping data




                      James Morris     Evoker
Background
                          Implementation
                         Software features
                                Examples
                                Summary



Summary




               www.sanger.ac.uk/resources/software/evoker/

  Open source software under the MIT license
  Source code and files are available here: sourceforge.net/projects/evoker
  Morris et al. (2010) Evoker: a visualization for genotype intensity data.
  Bioinformatics 2010 26(14):1786-1787
                            James Morris     Evoker

More Related Content

Viewers also liked

Typologie des pratiques de réutilisation - Partie 5 : typologie des pratiques
Typologie des pratiques de réutilisation - Partie 5 : typologie des pratiquesTypologie des pratiques de réutilisation - Partie 5 : typologie des pratiques
Typologie des pratiques de réutilisation - Partie 5 : typologie des pratiquesjordi78
 
Dysfonction Erectile en 2010
Dysfonction Erectile en 2010Dysfonction Erectile en 2010
Dysfonction Erectile en 2010sfa_angeiologie
 
A França e o património mundial
A França e o património mundialA França e o património mundial
A França e o património mundialUmberto Pacheco
 
Sais tu qui je suis (part 2)
Sais tu qui je suis (part 2)Sais tu qui je suis (part 2)
Sais tu qui je suis (part 2)ourbothy
 
ESO Nöel
ESO NöelESO Nöel
ESO Nöelchema
 
Cominfo23
Cominfo23Cominfo23
Cominfo23ATD13
 
Forum 3 Introduction
Forum 3   IntroductionForum 3   Introduction
Forum 3 IntroductionMatiro
 
France(s), territoire liquide 09/13
France(s), territoire liquide 09/13France(s), territoire liquide 09/13
France(s), territoire liquide 09/13Raphaële Bertho
 
Michel vargas gonzalez
Michel vargas gonzalezMichel vargas gonzalez
Michel vargas gonzalezchavezmurillo
 
Scrum aux frontières de la psychologie sociale scrum day 2012 slide share
Scrum aux frontières de la psychologie sociale scrum day 2012 slide shareScrum aux frontières de la psychologie sociale scrum day 2012 slide share
Scrum aux frontières de la psychologie sociale scrum day 2012 slide shareThierry Montulé
 
Ballade nocturnedevinez la_ville___j
Ballade nocturnedevinez la_ville___jBallade nocturnedevinez la_ville___j
Ballade nocturnedevinez la_ville___jfilipj2000
 
165 lettre du maire septembre 2012
165   lettre du maire septembre 2012165   lettre du maire septembre 2012
165 lettre du maire septembre 2012Jean-Luc Espinasse
 
428 petite croisiere1-v
428 petite croisiere1-v428 petite croisiere1-v
428 petite croisiere1-vfilipj2000
 
Quebec magnifique
Quebec magnifiqueQuebec magnifique
Quebec magnifiquefilipj2000
 

Viewers also liked (19)

Typologie des pratiques de réutilisation - Partie 5 : typologie des pratiques
Typologie des pratiques de réutilisation - Partie 5 : typologie des pratiquesTypologie des pratiques de réutilisation - Partie 5 : typologie des pratiques
Typologie des pratiques de réutilisation - Partie 5 : typologie des pratiques
 
Crazy horse
Crazy horseCrazy horse
Crazy horse
 
Crop monitor presentación extendida
Crop monitor presentación extendidaCrop monitor presentación extendida
Crop monitor presentación extendida
 
Dysfonction Erectile en 2010
Dysfonction Erectile en 2010Dysfonction Erectile en 2010
Dysfonction Erectile en 2010
 
A França e o património mundial
A França e o património mundialA França e o património mundial
A França e o património mundial
 
Sais tu qui je suis (part 2)
Sais tu qui je suis (part 2)Sais tu qui je suis (part 2)
Sais tu qui je suis (part 2)
 
ESO Nöel
ESO NöelESO Nöel
ESO Nöel
 
Cominfo23
Cominfo23Cominfo23
Cominfo23
 
Forum 3 Introduction
Forum 3   IntroductionForum 3   Introduction
Forum 3 Introduction
 
Relaxe inde
Relaxe indeRelaxe inde
Relaxe inde
 
France(s), territoire liquide 09/13
France(s), territoire liquide 09/13France(s), territoire liquide 09/13
France(s), territoire liquide 09/13
 
Michel vargas gonzalez
Michel vargas gonzalezMichel vargas gonzalez
Michel vargas gonzalez
 
Scrum aux frontières de la psychologie sociale scrum day 2012 slide share
Scrum aux frontières de la psychologie sociale scrum day 2012 slide shareScrum aux frontières de la psychologie sociale scrum day 2012 slide share
Scrum aux frontières de la psychologie sociale scrum day 2012 slide share
 
Ballade nocturnedevinez la_ville___j
Ballade nocturnedevinez la_ville___jBallade nocturnedevinez la_ville___j
Ballade nocturnedevinez la_ville___j
 
165 lettre du maire septembre 2012
165   lettre du maire septembre 2012165   lettre du maire septembre 2012
165 lettre du maire septembre 2012
 
428 petite croisiere1-v
428 petite croisiere1-v428 petite croisiere1-v
428 petite croisiere1-v
 
Lennin
LenninLennin
Lennin
 
Quebec magnifique
Quebec magnifiqueQuebec magnifique
Quebec magnifique
 
Habbo
HabboHabbo
Habbo
 

More from BOSC 2010

Mercer bosc2010 microsoft_framework
Mercer bosc2010 microsoft_frameworkMercer bosc2010 microsoft_framework
Mercer bosc2010 microsoft_frameworkBOSC 2010
 
Langmead bosc2010 cloud-genomics
Langmead bosc2010 cloud-genomicsLangmead bosc2010 cloud-genomics
Langmead bosc2010 cloud-genomicsBOSC 2010
 
Schultheiss bosc2010 persistance-web-services
Schultheiss bosc2010 persistance-web-servicesSchultheiss bosc2010 persistance-web-services
Schultheiss bosc2010 persistance-web-servicesBOSC 2010
 
Swertz bosc2010 molgenis
Swertz bosc2010 molgenisSwertz bosc2010 molgenis
Swertz bosc2010 molgenisBOSC 2010
 
Rice bosc2010 emboss
Rice bosc2010 embossRice bosc2010 emboss
Rice bosc2010 embossBOSC 2010
 
Kono bosc2010 pathway_projector
Kono bosc2010 pathway_projectorKono bosc2010 pathway_projector
Kono bosc2010 pathway_projectorBOSC 2010
 
Kanterakis bosc2010 molgenis
Kanterakis bosc2010 molgenisKanterakis bosc2010 molgenis
Kanterakis bosc2010 molgenisBOSC 2010
 
Gautier bosc2010 pythonbioconductor
Gautier bosc2010 pythonbioconductorGautier bosc2010 pythonbioconductor
Gautier bosc2010 pythonbioconductorBOSC 2010
 
Gardler bosc2010 community_developmentattheasf
Gardler bosc2010 community_developmentattheasfGardler bosc2010 community_developmentattheasf
Gardler bosc2010 community_developmentattheasfBOSC 2010
 
Friedberg bosc2010 iprstats
Friedberg bosc2010 iprstatsFriedberg bosc2010 iprstats
Friedberg bosc2010 iprstatsBOSC 2010
 
Fields bosc2010 bio_perl
Fields bosc2010 bio_perlFields bosc2010 bio_perl
Fields bosc2010 bio_perlBOSC 2010
 
Chapman bosc2010 biopython
Chapman bosc2010 biopythonChapman bosc2010 biopython
Chapman bosc2010 biopythonBOSC 2010
 
Bonnal bosc2010 bio_ruby
Bonnal bosc2010 bio_rubyBonnal bosc2010 bio_ruby
Bonnal bosc2010 bio_rubyBOSC 2010
 
Puton bosc2010 bio_python-modules-rna
Puton bosc2010 bio_python-modules-rnaPuton bosc2010 bio_python-modules-rna
Puton bosc2010 bio_python-modules-rnaBOSC 2010
 
Bader bosc2010 cytoweb
Bader bosc2010 cytowebBader bosc2010 cytoweb
Bader bosc2010 cytowebBOSC 2010
 
Talevich bosc2010 bio-phylo
Talevich bosc2010 bio-phyloTalevich bosc2010 bio-phylo
Talevich bosc2010 bio-phyloBOSC 2010
 
Zmasek bosc2010 aptx
Zmasek bosc2010 aptxZmasek bosc2010 aptx
Zmasek bosc2010 aptxBOSC 2010
 
Wilkinson bosc2010 moby-to-sadi
Wilkinson bosc2010 moby-to-sadiWilkinson bosc2010 moby-to-sadi
Wilkinson bosc2010 moby-to-sadiBOSC 2010
 
Venkatesan bosc2010 onto-toolkit
Venkatesan bosc2010 onto-toolkitVenkatesan bosc2010 onto-toolkit
Venkatesan bosc2010 onto-toolkitBOSC 2010
 
Taylor bosc2010
Taylor bosc2010Taylor bosc2010
Taylor bosc2010BOSC 2010
 

More from BOSC 2010 (20)

Mercer bosc2010 microsoft_framework
Mercer bosc2010 microsoft_frameworkMercer bosc2010 microsoft_framework
Mercer bosc2010 microsoft_framework
 
Langmead bosc2010 cloud-genomics
Langmead bosc2010 cloud-genomicsLangmead bosc2010 cloud-genomics
Langmead bosc2010 cloud-genomics
 
Schultheiss bosc2010 persistance-web-services
Schultheiss bosc2010 persistance-web-servicesSchultheiss bosc2010 persistance-web-services
Schultheiss bosc2010 persistance-web-services
 
Swertz bosc2010 molgenis
Swertz bosc2010 molgenisSwertz bosc2010 molgenis
Swertz bosc2010 molgenis
 
Rice bosc2010 emboss
Rice bosc2010 embossRice bosc2010 emboss
Rice bosc2010 emboss
 
Kono bosc2010 pathway_projector
Kono bosc2010 pathway_projectorKono bosc2010 pathway_projector
Kono bosc2010 pathway_projector
 
Kanterakis bosc2010 molgenis
Kanterakis bosc2010 molgenisKanterakis bosc2010 molgenis
Kanterakis bosc2010 molgenis
 
Gautier bosc2010 pythonbioconductor
Gautier bosc2010 pythonbioconductorGautier bosc2010 pythonbioconductor
Gautier bosc2010 pythonbioconductor
 
Gardler bosc2010 community_developmentattheasf
Gardler bosc2010 community_developmentattheasfGardler bosc2010 community_developmentattheasf
Gardler bosc2010 community_developmentattheasf
 
Friedberg bosc2010 iprstats
Friedberg bosc2010 iprstatsFriedberg bosc2010 iprstats
Friedberg bosc2010 iprstats
 
Fields bosc2010 bio_perl
Fields bosc2010 bio_perlFields bosc2010 bio_perl
Fields bosc2010 bio_perl
 
Chapman bosc2010 biopython
Chapman bosc2010 biopythonChapman bosc2010 biopython
Chapman bosc2010 biopython
 
Bonnal bosc2010 bio_ruby
Bonnal bosc2010 bio_rubyBonnal bosc2010 bio_ruby
Bonnal bosc2010 bio_ruby
 
Puton bosc2010 bio_python-modules-rna
Puton bosc2010 bio_python-modules-rnaPuton bosc2010 bio_python-modules-rna
Puton bosc2010 bio_python-modules-rna
 
Bader bosc2010 cytoweb
Bader bosc2010 cytowebBader bosc2010 cytoweb
Bader bosc2010 cytoweb
 
Talevich bosc2010 bio-phylo
Talevich bosc2010 bio-phyloTalevich bosc2010 bio-phylo
Talevich bosc2010 bio-phylo
 
Zmasek bosc2010 aptx
Zmasek bosc2010 aptxZmasek bosc2010 aptx
Zmasek bosc2010 aptx
 
Wilkinson bosc2010 moby-to-sadi
Wilkinson bosc2010 moby-to-sadiWilkinson bosc2010 moby-to-sadi
Wilkinson bosc2010 moby-to-sadi
 
Venkatesan bosc2010 onto-toolkit
Venkatesan bosc2010 onto-toolkitVenkatesan bosc2010 onto-toolkit
Venkatesan bosc2010 onto-toolkit
 
Taylor bosc2010
Taylor bosc2010Taylor bosc2010
Taylor bosc2010
 

Recently uploaded

Integration and Automation in Practice: CI/CD in Mule Integration and Automat...
Integration and Automation in Practice: CI/CD in Mule Integration and Automat...Integration and Automation in Practice: CI/CD in Mule Integration and Automat...
Integration and Automation in Practice: CI/CD in Mule Integration and Automat...Patryk Bandurski
 
Kotlin Multiplatform & Compose Multiplatform - Starter kit for pragmatics
Kotlin Multiplatform & Compose Multiplatform - Starter kit for pragmaticsKotlin Multiplatform & Compose Multiplatform - Starter kit for pragmatics
Kotlin Multiplatform & Compose Multiplatform - Starter kit for pragmaticscarlostorres15106
 
Benefits Of Flutter Compared To Other Frameworks
Benefits Of Flutter Compared To Other FrameworksBenefits Of Flutter Compared To Other Frameworks
Benefits Of Flutter Compared To Other FrameworksSoftradix Technologies
 
#StandardsGoals for 2024: What’s new for BISAC - Tech Forum 2024
#StandardsGoals for 2024: What’s new for BISAC - Tech Forum 2024#StandardsGoals for 2024: What’s new for BISAC - Tech Forum 2024
#StandardsGoals for 2024: What’s new for BISAC - Tech Forum 2024BookNet Canada
 
Human Factors of XR: Using Human Factors to Design XR Systems
Human Factors of XR: Using Human Factors to Design XR SystemsHuman Factors of XR: Using Human Factors to Design XR Systems
Human Factors of XR: Using Human Factors to Design XR SystemsMark Billinghurst
 
"LLMs for Python Engineers: Advanced Data Analysis and Semantic Kernel",Oleks...
"LLMs for Python Engineers: Advanced Data Analysis and Semantic Kernel",Oleks..."LLMs for Python Engineers: Advanced Data Analysis and Semantic Kernel",Oleks...
"LLMs for Python Engineers: Advanced Data Analysis and Semantic Kernel",Oleks...Fwdays
 
Presentation on how to chat with PDF using ChatGPT code interpreter
Presentation on how to chat with PDF using ChatGPT code interpreterPresentation on how to chat with PDF using ChatGPT code interpreter
Presentation on how to chat with PDF using ChatGPT code interpreternaman860154
 
Unlocking the Potential of the Cloud for IBM Power Systems
Unlocking the Potential of the Cloud for IBM Power SystemsUnlocking the Potential of the Cloud for IBM Power Systems
Unlocking the Potential of the Cloud for IBM Power SystemsPrecisely
 
Install Stable Diffusion in windows machine
Install Stable Diffusion in windows machineInstall Stable Diffusion in windows machine
Install Stable Diffusion in windows machinePadma Pradeep
 
08448380779 Call Girls In Friends Colony Women Seeking Men
08448380779 Call Girls In Friends Colony Women Seeking Men08448380779 Call Girls In Friends Colony Women Seeking Men
08448380779 Call Girls In Friends Colony Women Seeking MenDelhi Call girls
 
CloudStudio User manual (basic edition):
CloudStudio User manual (basic edition):CloudStudio User manual (basic edition):
CloudStudio User manual (basic edition):comworks
 
Pigging Solutions Piggable Sweeping Elbows
Pigging Solutions Piggable Sweeping ElbowsPigging Solutions Piggable Sweeping Elbows
Pigging Solutions Piggable Sweeping ElbowsPigging Solutions
 
Build your next Gen AI Breakthrough - April 2024
Build your next Gen AI Breakthrough - April 2024Build your next Gen AI Breakthrough - April 2024
Build your next Gen AI Breakthrough - April 2024Neo4j
 
Unblocking The Main Thread Solving ANRs and Frozen Frames
Unblocking The Main Thread Solving ANRs and Frozen FramesUnblocking The Main Thread Solving ANRs and Frozen Frames
Unblocking The Main Thread Solving ANRs and Frozen FramesSinan KOZAK
 
Unleash Your Potential - Namagunga Girls Coding Club
Unleash Your Potential - Namagunga Girls Coding ClubUnleash Your Potential - Namagunga Girls Coding Club
Unleash Your Potential - Namagunga Girls Coding ClubKalema Edgar
 
08448380779 Call Girls In Diplomatic Enclave Women Seeking Men
08448380779 Call Girls In Diplomatic Enclave Women Seeking Men08448380779 Call Girls In Diplomatic Enclave Women Seeking Men
08448380779 Call Girls In Diplomatic Enclave Women Seeking MenDelhi Call girls
 
AI as an Interface for Commercial Buildings
AI as an Interface for Commercial BuildingsAI as an Interface for Commercial Buildings
AI as an Interface for Commercial BuildingsMemoori
 
APIForce Zurich 5 April Automation LPDG
APIForce Zurich 5 April  Automation LPDGAPIForce Zurich 5 April  Automation LPDG
APIForce Zurich 5 April Automation LPDGMarianaLemus7
 

Recently uploaded (20)

Integration and Automation in Practice: CI/CD in Mule Integration and Automat...
Integration and Automation in Practice: CI/CD in Mule Integration and Automat...Integration and Automation in Practice: CI/CD in Mule Integration and Automat...
Integration and Automation in Practice: CI/CD in Mule Integration and Automat...
 
Kotlin Multiplatform & Compose Multiplatform - Starter kit for pragmatics
Kotlin Multiplatform & Compose Multiplatform - Starter kit for pragmaticsKotlin Multiplatform & Compose Multiplatform - Starter kit for pragmatics
Kotlin Multiplatform & Compose Multiplatform - Starter kit for pragmatics
 
Benefits Of Flutter Compared To Other Frameworks
Benefits Of Flutter Compared To Other FrameworksBenefits Of Flutter Compared To Other Frameworks
Benefits Of Flutter Compared To Other Frameworks
 
#StandardsGoals for 2024: What’s new for BISAC - Tech Forum 2024
#StandardsGoals for 2024: What’s new for BISAC - Tech Forum 2024#StandardsGoals for 2024: What’s new for BISAC - Tech Forum 2024
#StandardsGoals for 2024: What’s new for BISAC - Tech Forum 2024
 
Human Factors of XR: Using Human Factors to Design XR Systems
Human Factors of XR: Using Human Factors to Design XR SystemsHuman Factors of XR: Using Human Factors to Design XR Systems
Human Factors of XR: Using Human Factors to Design XR Systems
 
"LLMs for Python Engineers: Advanced Data Analysis and Semantic Kernel",Oleks...
"LLMs for Python Engineers: Advanced Data Analysis and Semantic Kernel",Oleks..."LLMs for Python Engineers: Advanced Data Analysis and Semantic Kernel",Oleks...
"LLMs for Python Engineers: Advanced Data Analysis and Semantic Kernel",Oleks...
 
Presentation on how to chat with PDF using ChatGPT code interpreter
Presentation on how to chat with PDF using ChatGPT code interpreterPresentation on how to chat with PDF using ChatGPT code interpreter
Presentation on how to chat with PDF using ChatGPT code interpreter
 
Unlocking the Potential of the Cloud for IBM Power Systems
Unlocking the Potential of the Cloud for IBM Power SystemsUnlocking the Potential of the Cloud for IBM Power Systems
Unlocking the Potential of the Cloud for IBM Power Systems
 
Install Stable Diffusion in windows machine
Install Stable Diffusion in windows machineInstall Stable Diffusion in windows machine
Install Stable Diffusion in windows machine
 
08448380779 Call Girls In Friends Colony Women Seeking Men
08448380779 Call Girls In Friends Colony Women Seeking Men08448380779 Call Girls In Friends Colony Women Seeking Men
08448380779 Call Girls In Friends Colony Women Seeking Men
 
The transition to renewables in India.pdf
The transition to renewables in India.pdfThe transition to renewables in India.pdf
The transition to renewables in India.pdf
 
CloudStudio User manual (basic edition):
CloudStudio User manual (basic edition):CloudStudio User manual (basic edition):
CloudStudio User manual (basic edition):
 
Pigging Solutions Piggable Sweeping Elbows
Pigging Solutions Piggable Sweeping ElbowsPigging Solutions Piggable Sweeping Elbows
Pigging Solutions Piggable Sweeping Elbows
 
Build your next Gen AI Breakthrough - April 2024
Build your next Gen AI Breakthrough - April 2024Build your next Gen AI Breakthrough - April 2024
Build your next Gen AI Breakthrough - April 2024
 
Unblocking The Main Thread Solving ANRs and Frozen Frames
Unblocking The Main Thread Solving ANRs and Frozen FramesUnblocking The Main Thread Solving ANRs and Frozen Frames
Unblocking The Main Thread Solving ANRs and Frozen Frames
 
Unleash Your Potential - Namagunga Girls Coding Club
Unleash Your Potential - Namagunga Girls Coding ClubUnleash Your Potential - Namagunga Girls Coding Club
Unleash Your Potential - Namagunga Girls Coding Club
 
08448380779 Call Girls In Diplomatic Enclave Women Seeking Men
08448380779 Call Girls In Diplomatic Enclave Women Seeking Men08448380779 Call Girls In Diplomatic Enclave Women Seeking Men
08448380779 Call Girls In Diplomatic Enclave Women Seeking Men
 
AI as an Interface for Commercial Buildings
AI as an Interface for Commercial BuildingsAI as an Interface for Commercial Buildings
AI as an Interface for Commercial Buildings
 
APIForce Zurich 5 April Automation LPDG
APIForce Zurich 5 April  Automation LPDGAPIForce Zurich 5 April  Automation LPDG
APIForce Zurich 5 April Automation LPDG
 
Vulnerability_Management_GRC_by Sohang Sengupta.pptx
Vulnerability_Management_GRC_by Sohang Sengupta.pptxVulnerability_Management_GRC_by Sohang Sengupta.pptx
Vulnerability_Management_GRC_by Sohang Sengupta.pptx
 

Morris bosc2010 evoker

  • 1. Background Implementation Software features Examples Summary Evoker: A visualization tool for genotype intensity data James A. Morris 1 , Joshua C. Randall 2 , Julian B. Maller 2 and Jeffrey C. Barrett 1 1 Statistical and Computational Genetics research group, Wellcome Trust Sanger Institute, Cambridge, UK. 2 Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK. James Morris Evoker
  • 2. Background What are GWAS? Implementation Quality control Software features Evoker Examples Data Challenges Summary GWAS James Morris Evoker
  • 3. Background What are GWAS? Implementation Quality control Software features Evoker Examples Data Challenges Summary Quality control Missingness and heterozygosity, by individual q q Rigorous quality control 0.6 q qq q q (QC) procedures are Fraction of missing gentoypes 0.5 essential in GWAS Sources of false 0.4 q q q q q positives include: 0.3 q q q Poor quality DNA q Population structure 0.2 q q q q q qq q q qq q q q q qq q q q q q q q q qq q q q qqq q q q q qq qq q q qq q q qq qq q q qq q q q q q q Hidden confounders qq q qq qq q q qqq qq qq q Genotyping artifacts 0.1 q qq q q qqq q qq qq qq qq q qqq q q qqq qqq qqq qq qq qq q q qqq qq q qq qqq q qq q qq qq q qq qq qq q q qq qq q qq q qq q q q q qqq qq qq qqq qqqqq q qq qq q qqq qq qqq qqq q qqqqq qqq qq qqq qqq qqq q qqqqq qqqqqq q qq qqq qqqq qqqq qqqqqq qq qqqqqqq qq qq q qqqqqq q q q qq qq qq qq qqqqqqq q qq q qqqqq q qq qq qqq qqq qq 0.0 qqq qq qqqqq qq qqqqqq qqqqqqqq q q q qq qqq qq qqqqqqqqq qqq qqq q qq qqq qq qq qqq qq qq qq qqqq qqqqqqqq q qqqq qqqq q qq qq qq q qqqqqq qqqqqqqq q q q qq qqq qq qqq q qq qq qqqqq qq qqq qqq q qq qqq qq qq qq qq qq qq q qq qqqq qqqqq q qqq qq qq qq qq qq qqqq qqqq 0.2 0.3 0.4 0.5 0.6 0.7 Mean heterozygosity James Morris Evoker
  • 4. Background What are GWAS? Implementation Quality control Software features Evoker Examples Data Challenges Summary Evoker Evoker is an open source program for visualizing genotype intensity cluster plots Designed to be integrated into GWAS quality control workflows It provides a fast, user-friendly and interactive interface Evoker is a solution to the computational and storage problems related to working with such large datasets James Morris Evoker
  • 5. Background What are GWAS? Implementation Quality control Software features Evoker Examples Data Challenges Summary Data Challenges James Morris Evoker
  • 6. Background Implementation Software features Examples Summary Implementation Evoker is written in Java Utilizes helper scripts written in Perl Platform specific packages are available for: Mac Windows Linux James Morris Evoker
  • 7. Background Implementation Input features Software features Interactive features Examples Summary Input features James Morris Evoker
  • 8. Background Implementation Input features Software features Interactive features Examples Summary Interactive features James Morris Evoker
  • 9. Background Implementation Software features Examples Summary Using Evoker to confirm good genotype calls James Morris Evoker
  • 10. Background Implementation Software features Examples Summary Using Evoker to detect calling errors James Morris Evoker
  • 11. Background Implementation Software features Examples Summary Using Evoker to detect poor genotyping data James Morris Evoker
  • 12. Background Implementation Software features Examples Summary Summary www.sanger.ac.uk/resources/software/evoker/ Open source software under the MIT license Source code and files are available here: sourceforge.net/projects/evoker Morris et al. (2010) Evoker: a visualization for genotype intensity data. Bioinformatics 2010 26(14):1786-1787 James Morris Evoker