3D Genome Workshop - Overview of ENCODEepigenomegateway.wustl.edu/support/2016ASHG/2016-10-18... ·...

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3D Genome Workshop - Overview of ENCODE Dan Gilchrist Na<onal Human Genome Research Ins<tute October 18, 2016

Transcript of 3D Genome Workshop - Overview of ENCODEepigenomegateway.wustl.edu/support/2016ASHG/2016-10-18... ·...

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3DGenomeWorkshop-OverviewofENCODE

DanGilchristNa<onalHumanGenomeResearchIns<tute

October18,2016

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TheENCODEProject3DDataAccessThroughtheENCODEPortalTheENCODEEncyclopediaToolsforInves<ga<ngGene<cVariants

3DGenomeWorkshop-OverviewofENCODE

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ENCODETutorialshPps://www.encodeproject.org/tutorials/hPp://www.genome.gov/27553900

ENCODETutorials

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ENCODE:Annota<ngthenon-codinggenome

Vastmajorityofcommondiseaseassocia<onsandheritabilitylieoutsideofcodingregionsNon-codingvariantsknowntocausehumandiseasesandalterhumantraits(FXS,ALS)

Stamatoyannopoulos,Science337:1190,2012

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GoalsofENCODE

Iden<fyallcandidatefunc<onalelementsinthehumanandmousegenomes

Promoters,enhancers,transcribedregionsMakeresourcefreelyavailabletothecommunityforuseinstudiesof:

Gene<cbasisofdisease

Generegula<onComputa<onaltooldevelopment

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ENCODEDataTypes

1000sofdatasets100sofbiosamples

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TheENCODEProject3DDataAccessThroughtheENCODEPortalTheENCODEEncyclopediaToolsforInves<ga<ngGene<cVariants

3DGenomeWorkshop-OverviewofENCODE

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ENCODEPortal–Unrestricteddataaccess

hPps://encodeproject.org

Selectdatasets

Clicktodownloadorvisualize

Dataalsoavailablethroughprograma<cwebservices

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TheENCODEProject3DDataAccessThroughtheENCODEPortalTheENCODEEncyclopediaToolsforInves<ga<ngGene<cVariants

3DGenomeWorkshop-OverviewofENCODE

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ENCODEAnnota<ons–theEncyclopedia

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TheENCODEProject3DDataAccessThroughtheENCODEPortalTheENCODEEncyclopediaToolsforInves<ga<ngGene<cVariants

3DGenomeWorkshop-OverviewofENCODE

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ToolsforVariantAnnota<on–FunSeq2

hPp://funseq2.gersteinlab.org/Fu,Khurana,Gerstein,GenomeBiology(15)102014

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ToolsforVariantAnnota<on-RegulomeDB

hPp://regulomedb.org/Boyle,Cherry,Snyder,GenomeResearch22-1790,2012

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ToolsforVariantAnnota<on-HaploReg

www.broadins<tute.org/mammals/haploreg/WardandKellis,NucleicAcidsResearch40-D930,2011

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Comingsoon–ENCODEElementVisualizer!!!

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Comingsoon–NextPhaseofENCODE

Star<ngin2017ElementmappinginnormalanddiseasesamplesCharacterizingfunc<onofcandidateelementsLikelytoincludeexpanded3Ddatasets

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ENCODEatASHG2016

ChatwithENCODEDataCoordina<onCenterandNHGRIENCODEStaff

NHGRIBooth#5172-3PMThursday10/20

ENCODEDCCWorkshop-OpenScience:QualityAssuranceandAnalysisofChIP-seqDataUsingtheENCODEUniformProcessingPipeline

BallroomB7:15AMFriday10/21

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EliseFeingold MikePazin18

ENCODEProjectPar<cipants