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ITCR grant: The Integrative Genomics Viewer (IGV): Visualization Supporting Cancer Research PI: Jill P. Mesirov, UC San Diego Collaborative Set-Aside Project with Karchin Lab, Johns Hopkins University ITCR PI Meeting, April 7 2017 Helga Thorvaldsdottir 1

ITCR grant: The Integrative Genomics Viewer (IGV ...IGV_ITCRPImtg_April2017.pdfIntegrative Genomics Viewer (IGV) Goal of our collaborative set-aside project: Provide IGV users with

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Page 1: ITCR grant: The Integrative Genomics Viewer (IGV ...IGV_ITCRPImtg_April2017.pdfIntegrative Genomics Viewer (IGV) Goal of our collaborative set-aside project: Provide IGV users with

ITCRgrant:TheIntegrativeGenomicsViewer(IGV):VisualizationSupportingCancerResearchPI:JillP.Mesirov,UCSanDiego

CollaborativeSet-AsideProjectwithKarchin Lab,JohnsHopkinsUniversity

ITCRPIMeeting,April72017HelgaThorvaldsdottir

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Page 2: ITCR grant: The Integrative Genomics Viewer (IGV ...IGV_ITCRPImtg_April2017.pdfIntegrative Genomics Viewer (IGV) Goal of our collaborative set-aside project: Provide IGV users with

IntegrativeGenomicsViewer(IGV)

>Providesvisualexplorationofgenomicdata.

>Frequentlyusedforvisualinspectionofdataunderlyingputativevariantscalledbycomputationalmethods.

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Page 3: ITCR grant: The Integrative Genomics Viewer (IGV ...IGV_ITCRPImtg_April2017.pdfIntegrative Genomics Viewer (IGV) Goal of our collaborative set-aside project: Provide IGV users with

IntegrativeGenomicsViewer(IGV)

Goalofourcollaborativeset-asideproject:ProvideIGVuserswithtoolstohelpassessthefunctionalsignificanceofsomaticmutationsandgermlinepolymorphismstheyviewinIGV.

>Providesvisualexplorationofdataproducedbygenomicstudies.

>Frequentlyusedforvisualinspectionofdataunderlyingputativevariantscalledbycomputationalmethods.

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Page 4: ITCR grant: The Integrative Genomics Viewer (IGV ...IGV_ITCRPImtg_April2017.pdfIntegrative Genomics Viewer (IGV) Goal of our collaborative set-aside project: Provide IGV users with

Cancer-relatedAnnotationofVariantsToolkit(CRAVAT)

MutationPositionImagingToolkit(MuPIT)

Providespredictivescoresforgermlinevariants,somaticmutationsandrelativegeneimportance,aswellasannotationsfrompublishedliteratureanddatabases.

MapsSNVsfromgenomiccoordinatesontoproteinstructuresandprovidesaninteractivevisualizationtool.

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Page 5: ITCR grant: The Integrative Genomics Viewer (IGV ...IGV_ITCRPImtg_April2017.pdfIntegrative Genomics Viewer (IGV) Goal of our collaborative set-aside project: Provide IGV users with

DirectlinksfromIGVtoCRAVAT

1. ClickonavariantinIGVtrack(.bam,.vcf,.maf tracks)à OpenwindowwithCRAVAT annotations

2. ClickonavariantinIGV track(.bam,.vcf,.maf tracks)à LaunchCRAVAT analysis

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Page 6: ITCR grant: The Integrative Genomics Viewer (IGV ...IGV_ITCRPImtg_April2017.pdfIntegrative Genomics Viewer (IGV) Goal of our collaborative set-aside project: Provide IGV users with

DirectlinksfromIGVtoCRAVAT

1. ClickonavariantinIGVtrack(.bam,.vcf,.maf tracks)à OpenwindowwithCRAVAT annotations

2. ClickonavariantinIGV track(.bam,.vcf,.maf tracks)à LaunchCRAVAT analysis

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Page 7: ITCR grant: The Integrative Genomics Viewer (IGV ...IGV_ITCRPImtg_April2017.pdfIntegrative Genomics Viewer (IGV) Goal of our collaborative set-aside project: Provide IGV users with

DirectlinksfromIGVtoCRAVAT

UserentersCRAVATanalysisoptions

1. ClickonavariantinIGVtrack(.bam,.vcf,.maf tracks)à OpenwindowwithCRAVAT annotations

2. ClickonavariantinIGV track(.bam,.vcf,.maf tracks)à LaunchCRAVAT analysis

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Page 8: ITCR grant: The Integrative Genomics Viewer (IGV ...IGV_ITCRPImtg_April2017.pdfIntegrative Genomics Viewer (IGV) Goal of our collaborative set-aside project: Provide IGV users with

DirectlinksfromIGVtoCRAVAT

1. ClickonavariantinIGVtrack(.bam,.vcf,.maf tracks)à OpenwindowwithCRAVAT annotations

2. ClickonavariantinIGV track(.bam,.vcf,.maf tracks)à LaunchCRAVAT analysis

UserentersCRAVATanalysisoptions

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Page 9: ITCR grant: The Integrative Genomics Viewer (IGV ...IGV_ITCRPImtg_April2017.pdfIntegrative Genomics Viewer (IGV) Goal of our collaborative set-aside project: Provide IGV users with

DirectlinksfromIGVtoMuPIT

1. Clickonavariant inIGVtrack(.bam,.vcf,.maf tracks)à Viewvariant inMuPIT 3Dproteinstructureviewer

2. Clickanywhere inanyIGVdatatrackà Viewlocus inMuPIT 3Dproteinstructureviewer

3. Clickonexon inIGVgeneannotationtrackà Viewgene inMuPIT 3Dproteinstructureviewer

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Page 10: ITCR grant: The Integrative Genomics Viewer (IGV ...IGV_ITCRPImtg_April2017.pdfIntegrative Genomics Viewer (IGV) Goal of our collaborative set-aside project: Provide IGV users with

DirectlinksfromIGVtoMuPIT

1. Clickonavariant inIGVtrack(.bam,.vcf,.maf tracks)à Viewvariant inMuPIT 3Dproteinstructureviewer

2. Clickanywhere inanyIGVtrackà Viewlocus inMuPIT 3Dproteinstructureviewer

3. Clickonexon inIGVgeneannotationtrackà Viewgene inMuPIT 3Dproteinstructureviewer

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Page 11: ITCR grant: The Integrative Genomics Viewer (IGV ...IGV_ITCRPImtg_April2017.pdfIntegrative Genomics Viewer (IGV) Goal of our collaborative set-aside project: Provide IGV users with

DirectlinksfromIGVtoMuPIT

1. Clickonavariant inIGVtrack(.bam,.vcf,.maf tracks)à Viewvariant inMuPIT 3Dproteinstructureviewer

2. Clickanywhere inanyIGVtrackà Viewlocus inMuPIT 3Dproteinstructureviewer

3. Clickonexon inIGVgeneannotationtrackà Viewgene inMuPIT 3Dproteinstructureviewer

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Page 12: ITCR grant: The Integrative Genomics Viewer (IGV ...IGV_ITCRPImtg_April2017.pdfIntegrative Genomics Viewer (IGV) Goal of our collaborative set-aside project: Provide IGV users with

IGVDesktopand igv.js

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