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ENCODE and Epigenomics Roadmap Workshop

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Page 1: ENCODE and Epigenomics Roadmap Workshop

ENCODE and Epigenomics Roadmap Workshop

Workshop Overview13 1 IntroducRon

bull Overview of the projects bull What13 data13 are available bull New features

2 How the scienRfic community has used ENCODE and Roadmap Epigenomics data13

3 InteracRve tutorial bull Commonly asked quesRons about13 data13 access bull QuesRons about13 analyzing the data13 bull We want13 to hear your quesRons

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Project13 goals

NIH Roadmap Epigenomics Program Research to transform our understanding of how epigeneRcs contributes to disease

(hTpcommonfundnihgovepigenomics)13

ENCODE13 (Encyclopedia13 of DNA13 Elements) CreaRng comprehensive high quality catalogs of funcRonal elements in the human and mouse genomes using high-shy‐throughput13 technologies Completed analysis of the genomes of the fruit13 fly and roundworm

(hTpwwwgenomegovencode)13

Common purposes13 1 Create a public resource of data13

bull Experimental data13 available pre-shy‐publicaRon bull Encourage community use of datasets

2 Promote technology development13 bull For epigenomics research bull IdenRficaRon and validaRon of funcRonal elements

3 Development13 of standards bull DefiniRon of metadata13 bull Standards for performing the assaybull Uniform analysis of data13 bull Standards for data13 quality

ENCODEEpigenomics Roadmap Workshop ASHG 2013

What13 data13 types are available RoadmapENCODE13 Epigenomics

ChIP-shy‐seq (transcripRon factors RNA-shy‐bindingproteins)

ChIP-shy‐seq (histone marks)

RNA-shy‐seq

bull

bull bull

bull bull

RNA-shy‐seq aCer shRNAsiRNA knockdown13 bull

DNA methylaRon bull bull

DNAse bull bull

RNA-shy‐binding assays (CLIP-shy‐seq RIP-shy‐seq)13 bull

Enhancer assays bull

5C bull

~3400 ~120 completeTotal data13 datasets epigenomes

ENCODEEpigenomics Roadmap Workshop ASHG 2013

How can the data13 be used Hypothesis generaRon and refinement13 of gene regulaRon

bull What13 are the enhancers and promoter regions for a gene bull What13 is the target13 gene for the regulatory regions bull Is the regulaRon specific for certain cell types

Many geneRc findings for human disease map to non-shy‐protein coding regions of the human genome ENCODE idenRfied regions can help develop hypotheses

bull What13 is the causal variant bull What13 is the funcRon of the variant

ENCODEEpigenomics Roadmap Workshop ASHG 2013

  

ENCODE data access

ConsorLum homepage hTpencodeprojectorgbull View metadata protocols and standardsbull Data visualizaRon at hTpgenomeucscedu hTpensemblorg

NCBI hTpwwwncbinlmnihgovbioproject30707 (human)hTpwwwncbinlmnihgovbioproject50617 (mouse)

bull View and download databull Compare samples

modENCODE hTpmodencodeorgbull View and download data

EENNCCOODDEEEEppiiggeennoomimicscs RoRoaaddmamapp WWoorrkksshhoopp AASSHGHG 22001133

  

  

   

  

Roadmap Epigenomics data13 access ConsorLum13 homepage13 hTproadmapepigenomicsorg bull Genome13 browser13 bull View protocols and standards

NCBI13 hTpncbinlmnihgovepigenomics hTpncbinlmnihgovgeoroadmapepigenomics

bull View and download data13 bull Compare samples

Human13 Epigenome Atlas hTpepigenomeatlasorg bull View data13 on genome or with Atlas gene browser bull Download data13 bull Use13 Genboree Workbench tools

WashU VizHub hTpvizhubwustledu bull Next-shy‐gen browser hTpepigenomegatewaywustledu bull UCSC visualizaRon hub at hTpgenomeucscedu

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Roadmap Epigenomics Mapping ConsorRum

bull Reference Epigenome Mapping Centers Brad Bernstein amp Alex Meissner (Broad) Joe Costello (UCSF)13 Bing13 Ren (UCSD) John Stamatoyannopoulous (Washington)

bull Epigenomics Data13 Analysis and CoordinaRon Center Aleks Milosavljevic (Baylor)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

ENCODE13 ConsorRum ENCODE13 ProducLon13 Centers

Bradley13 Bernstein13 (John Rinn Manolis Kellis)

Thomas13 Gingeras13 (Carrie Davis Roderic Guigo)

Brenton13 Graveley13 (Christopher Burge Xiang-shy‐Dong Fu Eugene Yeo)

Richard Myers (Devin13 Absher Gregory Cooper Shawn Levy FlorenciaPauli Behn Ross Hardison Ali Mortazavi Timothy Reddy Barbara13 Wold)

Bing Ren (Joseph13 Ecker Len13 Pennacchio Axel Visel Wei Wang)

Michael Snyder (Kevin White Sherman Weissman Peggy Farnham)

John Stamatoyannopoulos13 (Ralph Hansen Rajinder Kaul PatrickNavas George Stamatoyannopoulos Piper TreuRng Michael BenderJob Dekker Mark Groudine)13

ENCODE13 Data13 CoordinaLon13 Center

Mike Cherry (Jim Kent)

ENCODE Data Analysis Center

Zhiping Weng (Mark Gerstein Manolis Kellis Roderic Guigo RafaelIrizarry Xiaole Shirley Liu William Stafford Noble)

AddiLonal ENCODE ParLcipants

Timothy Hubbard (Mark Gerstein Roderic Guigo Jen Harrow RachelHarte David Haussler Manolis Kellis Alexandre Reymond StephenSearle Alfonso Valencia)

David Gilbert (Tamer Kahveci)

ENCODE ComputaLonal Analysis Groups

Peter Bickel (Haiyan Huang Leonard Lipovich Bin Yu)

David Gifford (Tommi Jaakkola)13

Sunduz Keles13 (Emery Bresnick13 Colin Dewey)

Robert Klein (ChrisRna13 Leslie Souma13 Raychaudhuri Ross LevineKenneth Offit)13

Jonathan Pritchard (Yoav Gilad)13

Xinshu Xiao

ENCODE13 Technology13 Development13 Groups13

Christopher13 Burge13 (Wendy Gilbert Brenton Graveley Robert13 Horvitz)

Barak13 Cohen and Joseph Corbo

Peggy Farnham (Victor Jin David Jay Segal)

R David Hawkins

ChrisLna Leslie13 (Christopher Mason)

Jason Lieb (Karen Mohlke13 Eran Segal)

Mats Ljungman (Thomas Wilson)

Tarjei Mikkelsen

Jay Shendure and Nadav Ahituv (Michael McManus)

Alexey Wolfson

Guo-shy‐Cheng13 Yuan (Stuart13 Orkin)13

hellip and many senior13 scienLsts postdocs students technicians computer13 scienLsts staLsLcians andadministrators13 in these groups13

Current ENCODE parLcipants13 hNpwwwgenomegov26525220

Future direcRons

1 Shared metadata13 standard among mulRple projects ENCODE modENCODE Roadmap Epigenomics

2 AnnotaRon of metadata13 using ontologies

3 Biologically intuiRve displays of metadata13

4 Easier idenRficaRon of data13 sets using metadata13

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Biologically relevant13 view of metadataEurie Hong (1462T)

about13 the

Protocols and addiRonal documentaRon

Details describing the biosample

De-shy‐idenRfied informaRon donor

Using ontologies for searchingVenkat Malladi (1613F)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Contact13 us

encode-shy‐helplistsstanfordedu

encodedcc

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Speakers

GeneLcs and Genomics of Maternal Glycemia During13 Pregnancy13 New Insights13 from13 Genome Wide Mapping and ENCODEWilliam L Lowe Jr MDProfessor of Medicine and Vice Dean for Academic AffairsNorthwestern University

Expression and RegulaLon of Lung FuncLon Genome-shy‐Wide Associated LocusMaen Obeidat13 PhDPost-shy‐doctoral fellow (PI Peter Pare PhD)University of BriRsh Columbia13

Using the Epigenome Roadmap data to analyze geneLc studies of type 2 diabetesVineeta Agarwala (PhD student PI David Altshuler MD PhD Broad InsRtute)Abhishek Sarkar (PhD student PI Manolis Kellis PhD Broad InsRtute)Kyle13 Gaulton (Post-shy‐doctoral fellow PI Mark McCarthy Peter Donnelly Wellcome Trust13 Centre for Human GeneRcs)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

  

Tutorial bull How can ENCODE data13 help with analysis of SNP data13 from

GWAS studies Jill Moore Luke Ward Robert13 Klein bull How can ENCODE data13 help with annotaRon of non-shy‐coding

variants Jill Moore Ekta Khurana Robert13 Klein bull How can ENCODE data13 help idenRfy how my gene of interest13 is

regulated Alon Goren Brian Lee Adam Frankish (single gene level analysis) Ross Hardison

bull What13 can ENCODE data13 tell me about13 my genes expression levels13 Brian Lee Eurie Hong Adam Frankish (single gene level analysis)

bull How can I use mouse ENCODE data13 in my analyses Feng Yue13 Ross Hardison13 Venkat Malladi

bull Analyzing ChIP-shy‐seq data13 Alon Goren Anshul Kundaje bull Basic introducRon to accessing ENCODERoadmap Epigenomics

data13 Anshul Kundaje Jiang Zhu Eurie Hong ENCODEEpigenomics Roadmap Workshop ASHG 2013

Page 2: ENCODE and Epigenomics Roadmap Workshop

Workshop Overview13 1 IntroducRon

bull Overview of the projects bull What13 data13 are available bull New features

2 How the scienRfic community has used ENCODE and Roadmap Epigenomics data13

3 InteracRve tutorial bull Commonly asked quesRons about13 data13 access bull QuesRons about13 analyzing the data13 bull We want13 to hear your quesRons

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Project13 goals

NIH Roadmap Epigenomics Program Research to transform our understanding of how epigeneRcs contributes to disease

(hTpcommonfundnihgovepigenomics)13

ENCODE13 (Encyclopedia13 of DNA13 Elements) CreaRng comprehensive high quality catalogs of funcRonal elements in the human and mouse genomes using high-shy‐throughput13 technologies Completed analysis of the genomes of the fruit13 fly and roundworm

(hTpwwwgenomegovencode)13

Common purposes13 1 Create a public resource of data13

bull Experimental data13 available pre-shy‐publicaRon bull Encourage community use of datasets

2 Promote technology development13 bull For epigenomics research bull IdenRficaRon and validaRon of funcRonal elements

3 Development13 of standards bull DefiniRon of metadata13 bull Standards for performing the assaybull Uniform analysis of data13 bull Standards for data13 quality

ENCODEEpigenomics Roadmap Workshop ASHG 2013

What13 data13 types are available RoadmapENCODE13 Epigenomics

ChIP-shy‐seq (transcripRon factors RNA-shy‐bindingproteins)

ChIP-shy‐seq (histone marks)

RNA-shy‐seq

bull

bull bull

bull bull

RNA-shy‐seq aCer shRNAsiRNA knockdown13 bull

DNA methylaRon bull bull

DNAse bull bull

RNA-shy‐binding assays (CLIP-shy‐seq RIP-shy‐seq)13 bull

Enhancer assays bull

5C bull

~3400 ~120 completeTotal data13 datasets epigenomes

ENCODEEpigenomics Roadmap Workshop ASHG 2013

How can the data13 be used Hypothesis generaRon and refinement13 of gene regulaRon

bull What13 are the enhancers and promoter regions for a gene bull What13 is the target13 gene for the regulatory regions bull Is the regulaRon specific for certain cell types

Many geneRc findings for human disease map to non-shy‐protein coding regions of the human genome ENCODE idenRfied regions can help develop hypotheses

bull What13 is the causal variant bull What13 is the funcRon of the variant

ENCODEEpigenomics Roadmap Workshop ASHG 2013

  

ENCODE data access

ConsorLum homepage hTpencodeprojectorgbull View metadata protocols and standardsbull Data visualizaRon at hTpgenomeucscedu hTpensemblorg

NCBI hTpwwwncbinlmnihgovbioproject30707 (human)hTpwwwncbinlmnihgovbioproject50617 (mouse)

bull View and download databull Compare samples

modENCODE hTpmodencodeorgbull View and download data

EENNCCOODDEEEEppiiggeennoomimicscs RoRoaaddmamapp WWoorrkksshhoopp AASSHGHG 22001133

  

  

   

  

Roadmap Epigenomics data13 access ConsorLum13 homepage13 hTproadmapepigenomicsorg bull Genome13 browser13 bull View protocols and standards

NCBI13 hTpncbinlmnihgovepigenomics hTpncbinlmnihgovgeoroadmapepigenomics

bull View and download data13 bull Compare samples

Human13 Epigenome Atlas hTpepigenomeatlasorg bull View data13 on genome or with Atlas gene browser bull Download data13 bull Use13 Genboree Workbench tools

WashU VizHub hTpvizhubwustledu bull Next-shy‐gen browser hTpepigenomegatewaywustledu bull UCSC visualizaRon hub at hTpgenomeucscedu

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Roadmap Epigenomics Mapping ConsorRum

bull Reference Epigenome Mapping Centers Brad Bernstein amp Alex Meissner (Broad) Joe Costello (UCSF)13 Bing13 Ren (UCSD) John Stamatoyannopoulous (Washington)

bull Epigenomics Data13 Analysis and CoordinaRon Center Aleks Milosavljevic (Baylor)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

ENCODE13 ConsorRum ENCODE13 ProducLon13 Centers

Bradley13 Bernstein13 (John Rinn Manolis Kellis)

Thomas13 Gingeras13 (Carrie Davis Roderic Guigo)

Brenton13 Graveley13 (Christopher Burge Xiang-shy‐Dong Fu Eugene Yeo)

Richard Myers (Devin13 Absher Gregory Cooper Shawn Levy FlorenciaPauli Behn Ross Hardison Ali Mortazavi Timothy Reddy Barbara13 Wold)

Bing Ren (Joseph13 Ecker Len13 Pennacchio Axel Visel Wei Wang)

Michael Snyder (Kevin White Sherman Weissman Peggy Farnham)

John Stamatoyannopoulos13 (Ralph Hansen Rajinder Kaul PatrickNavas George Stamatoyannopoulos Piper TreuRng Michael BenderJob Dekker Mark Groudine)13

ENCODE13 Data13 CoordinaLon13 Center

Mike Cherry (Jim Kent)

ENCODE Data Analysis Center

Zhiping Weng (Mark Gerstein Manolis Kellis Roderic Guigo RafaelIrizarry Xiaole Shirley Liu William Stafford Noble)

AddiLonal ENCODE ParLcipants

Timothy Hubbard (Mark Gerstein Roderic Guigo Jen Harrow RachelHarte David Haussler Manolis Kellis Alexandre Reymond StephenSearle Alfonso Valencia)

David Gilbert (Tamer Kahveci)

ENCODE ComputaLonal Analysis Groups

Peter Bickel (Haiyan Huang Leonard Lipovich Bin Yu)

David Gifford (Tommi Jaakkola)13

Sunduz Keles13 (Emery Bresnick13 Colin Dewey)

Robert Klein (ChrisRna13 Leslie Souma13 Raychaudhuri Ross LevineKenneth Offit)13

Jonathan Pritchard (Yoav Gilad)13

Xinshu Xiao

ENCODE13 Technology13 Development13 Groups13

Christopher13 Burge13 (Wendy Gilbert Brenton Graveley Robert13 Horvitz)

Barak13 Cohen and Joseph Corbo

Peggy Farnham (Victor Jin David Jay Segal)

R David Hawkins

ChrisLna Leslie13 (Christopher Mason)

Jason Lieb (Karen Mohlke13 Eran Segal)

Mats Ljungman (Thomas Wilson)

Tarjei Mikkelsen

Jay Shendure and Nadav Ahituv (Michael McManus)

Alexey Wolfson

Guo-shy‐Cheng13 Yuan (Stuart13 Orkin)13

hellip and many senior13 scienLsts postdocs students technicians computer13 scienLsts staLsLcians andadministrators13 in these groups13

Current ENCODE parLcipants13 hNpwwwgenomegov26525220

Future direcRons

1 Shared metadata13 standard among mulRple projects ENCODE modENCODE Roadmap Epigenomics

2 AnnotaRon of metadata13 using ontologies

3 Biologically intuiRve displays of metadata13

4 Easier idenRficaRon of data13 sets using metadata13

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Biologically relevant13 view of metadataEurie Hong (1462T)

about13 the

Protocols and addiRonal documentaRon

Details describing the biosample

De-shy‐idenRfied informaRon donor

Using ontologies for searchingVenkat Malladi (1613F)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Contact13 us

encode-shy‐helplistsstanfordedu

encodedcc

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Speakers

GeneLcs and Genomics of Maternal Glycemia During13 Pregnancy13 New Insights13 from13 Genome Wide Mapping and ENCODEWilliam L Lowe Jr MDProfessor of Medicine and Vice Dean for Academic AffairsNorthwestern University

Expression and RegulaLon of Lung FuncLon Genome-shy‐Wide Associated LocusMaen Obeidat13 PhDPost-shy‐doctoral fellow (PI Peter Pare PhD)University of BriRsh Columbia13

Using the Epigenome Roadmap data to analyze geneLc studies of type 2 diabetesVineeta Agarwala (PhD student PI David Altshuler MD PhD Broad InsRtute)Abhishek Sarkar (PhD student PI Manolis Kellis PhD Broad InsRtute)Kyle13 Gaulton (Post-shy‐doctoral fellow PI Mark McCarthy Peter Donnelly Wellcome Trust13 Centre for Human GeneRcs)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

  

Tutorial bull How can ENCODE data13 help with analysis of SNP data13 from

GWAS studies Jill Moore Luke Ward Robert13 Klein bull How can ENCODE data13 help with annotaRon of non-shy‐coding

variants Jill Moore Ekta Khurana Robert13 Klein bull How can ENCODE data13 help idenRfy how my gene of interest13 is

regulated Alon Goren Brian Lee Adam Frankish (single gene level analysis) Ross Hardison

bull What13 can ENCODE data13 tell me about13 my genes expression levels13 Brian Lee Eurie Hong Adam Frankish (single gene level analysis)

bull How can I use mouse ENCODE data13 in my analyses Feng Yue13 Ross Hardison13 Venkat Malladi

bull Analyzing ChIP-shy‐seq data13 Alon Goren Anshul Kundaje bull Basic introducRon to accessing ENCODERoadmap Epigenomics

data13 Anshul Kundaje Jiang Zhu Eurie Hong ENCODEEpigenomics Roadmap Workshop ASHG 2013

Page 3: ENCODE and Epigenomics Roadmap Workshop

Project13 goals

NIH Roadmap Epigenomics Program Research to transform our understanding of how epigeneRcs contributes to disease

(hTpcommonfundnihgovepigenomics)13

ENCODE13 (Encyclopedia13 of DNA13 Elements) CreaRng comprehensive high quality catalogs of funcRonal elements in the human and mouse genomes using high-shy‐throughput13 technologies Completed analysis of the genomes of the fruit13 fly and roundworm

(hTpwwwgenomegovencode)13

Common purposes13 1 Create a public resource of data13

bull Experimental data13 available pre-shy‐publicaRon bull Encourage community use of datasets

2 Promote technology development13 bull For epigenomics research bull IdenRficaRon and validaRon of funcRonal elements

3 Development13 of standards bull DefiniRon of metadata13 bull Standards for performing the assaybull Uniform analysis of data13 bull Standards for data13 quality

ENCODEEpigenomics Roadmap Workshop ASHG 2013

What13 data13 types are available RoadmapENCODE13 Epigenomics

ChIP-shy‐seq (transcripRon factors RNA-shy‐bindingproteins)

ChIP-shy‐seq (histone marks)

RNA-shy‐seq

bull

bull bull

bull bull

RNA-shy‐seq aCer shRNAsiRNA knockdown13 bull

DNA methylaRon bull bull

DNAse bull bull

RNA-shy‐binding assays (CLIP-shy‐seq RIP-shy‐seq)13 bull

Enhancer assays bull

5C bull

~3400 ~120 completeTotal data13 datasets epigenomes

ENCODEEpigenomics Roadmap Workshop ASHG 2013

How can the data13 be used Hypothesis generaRon and refinement13 of gene regulaRon

bull What13 are the enhancers and promoter regions for a gene bull What13 is the target13 gene for the regulatory regions bull Is the regulaRon specific for certain cell types

Many geneRc findings for human disease map to non-shy‐protein coding regions of the human genome ENCODE idenRfied regions can help develop hypotheses

bull What13 is the causal variant bull What13 is the funcRon of the variant

ENCODEEpigenomics Roadmap Workshop ASHG 2013

  

ENCODE data access

ConsorLum homepage hTpencodeprojectorgbull View metadata protocols and standardsbull Data visualizaRon at hTpgenomeucscedu hTpensemblorg

NCBI hTpwwwncbinlmnihgovbioproject30707 (human)hTpwwwncbinlmnihgovbioproject50617 (mouse)

bull View and download databull Compare samples

modENCODE hTpmodencodeorgbull View and download data

EENNCCOODDEEEEppiiggeennoomimicscs RoRoaaddmamapp WWoorrkksshhoopp AASSHGHG 22001133

  

  

   

  

Roadmap Epigenomics data13 access ConsorLum13 homepage13 hTproadmapepigenomicsorg bull Genome13 browser13 bull View protocols and standards

NCBI13 hTpncbinlmnihgovepigenomics hTpncbinlmnihgovgeoroadmapepigenomics

bull View and download data13 bull Compare samples

Human13 Epigenome Atlas hTpepigenomeatlasorg bull View data13 on genome or with Atlas gene browser bull Download data13 bull Use13 Genboree Workbench tools

WashU VizHub hTpvizhubwustledu bull Next-shy‐gen browser hTpepigenomegatewaywustledu bull UCSC visualizaRon hub at hTpgenomeucscedu

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Roadmap Epigenomics Mapping ConsorRum

bull Reference Epigenome Mapping Centers Brad Bernstein amp Alex Meissner (Broad) Joe Costello (UCSF)13 Bing13 Ren (UCSD) John Stamatoyannopoulous (Washington)

bull Epigenomics Data13 Analysis and CoordinaRon Center Aleks Milosavljevic (Baylor)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

ENCODE13 ConsorRum ENCODE13 ProducLon13 Centers

Bradley13 Bernstein13 (John Rinn Manolis Kellis)

Thomas13 Gingeras13 (Carrie Davis Roderic Guigo)

Brenton13 Graveley13 (Christopher Burge Xiang-shy‐Dong Fu Eugene Yeo)

Richard Myers (Devin13 Absher Gregory Cooper Shawn Levy FlorenciaPauli Behn Ross Hardison Ali Mortazavi Timothy Reddy Barbara13 Wold)

Bing Ren (Joseph13 Ecker Len13 Pennacchio Axel Visel Wei Wang)

Michael Snyder (Kevin White Sherman Weissman Peggy Farnham)

John Stamatoyannopoulos13 (Ralph Hansen Rajinder Kaul PatrickNavas George Stamatoyannopoulos Piper TreuRng Michael BenderJob Dekker Mark Groudine)13

ENCODE13 Data13 CoordinaLon13 Center

Mike Cherry (Jim Kent)

ENCODE Data Analysis Center

Zhiping Weng (Mark Gerstein Manolis Kellis Roderic Guigo RafaelIrizarry Xiaole Shirley Liu William Stafford Noble)

AddiLonal ENCODE ParLcipants

Timothy Hubbard (Mark Gerstein Roderic Guigo Jen Harrow RachelHarte David Haussler Manolis Kellis Alexandre Reymond StephenSearle Alfonso Valencia)

David Gilbert (Tamer Kahveci)

ENCODE ComputaLonal Analysis Groups

Peter Bickel (Haiyan Huang Leonard Lipovich Bin Yu)

David Gifford (Tommi Jaakkola)13

Sunduz Keles13 (Emery Bresnick13 Colin Dewey)

Robert Klein (ChrisRna13 Leslie Souma13 Raychaudhuri Ross LevineKenneth Offit)13

Jonathan Pritchard (Yoav Gilad)13

Xinshu Xiao

ENCODE13 Technology13 Development13 Groups13

Christopher13 Burge13 (Wendy Gilbert Brenton Graveley Robert13 Horvitz)

Barak13 Cohen and Joseph Corbo

Peggy Farnham (Victor Jin David Jay Segal)

R David Hawkins

ChrisLna Leslie13 (Christopher Mason)

Jason Lieb (Karen Mohlke13 Eran Segal)

Mats Ljungman (Thomas Wilson)

Tarjei Mikkelsen

Jay Shendure and Nadav Ahituv (Michael McManus)

Alexey Wolfson

Guo-shy‐Cheng13 Yuan (Stuart13 Orkin)13

hellip and many senior13 scienLsts postdocs students technicians computer13 scienLsts staLsLcians andadministrators13 in these groups13

Current ENCODE parLcipants13 hNpwwwgenomegov26525220

Future direcRons

1 Shared metadata13 standard among mulRple projects ENCODE modENCODE Roadmap Epigenomics

2 AnnotaRon of metadata13 using ontologies

3 Biologically intuiRve displays of metadata13

4 Easier idenRficaRon of data13 sets using metadata13

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Biologically relevant13 view of metadataEurie Hong (1462T)

about13 the

Protocols and addiRonal documentaRon

Details describing the biosample

De-shy‐idenRfied informaRon donor

Using ontologies for searchingVenkat Malladi (1613F)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Contact13 us

encode-shy‐helplistsstanfordedu

encodedcc

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Speakers

GeneLcs and Genomics of Maternal Glycemia During13 Pregnancy13 New Insights13 from13 Genome Wide Mapping and ENCODEWilliam L Lowe Jr MDProfessor of Medicine and Vice Dean for Academic AffairsNorthwestern University

Expression and RegulaLon of Lung FuncLon Genome-shy‐Wide Associated LocusMaen Obeidat13 PhDPost-shy‐doctoral fellow (PI Peter Pare PhD)University of BriRsh Columbia13

Using the Epigenome Roadmap data to analyze geneLc studies of type 2 diabetesVineeta Agarwala (PhD student PI David Altshuler MD PhD Broad InsRtute)Abhishek Sarkar (PhD student PI Manolis Kellis PhD Broad InsRtute)Kyle13 Gaulton (Post-shy‐doctoral fellow PI Mark McCarthy Peter Donnelly Wellcome Trust13 Centre for Human GeneRcs)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

  

Tutorial bull How can ENCODE data13 help with analysis of SNP data13 from

GWAS studies Jill Moore Luke Ward Robert13 Klein bull How can ENCODE data13 help with annotaRon of non-shy‐coding

variants Jill Moore Ekta Khurana Robert13 Klein bull How can ENCODE data13 help idenRfy how my gene of interest13 is

regulated Alon Goren Brian Lee Adam Frankish (single gene level analysis) Ross Hardison

bull What13 can ENCODE data13 tell me about13 my genes expression levels13 Brian Lee Eurie Hong Adam Frankish (single gene level analysis)

bull How can I use mouse ENCODE data13 in my analyses Feng Yue13 Ross Hardison13 Venkat Malladi

bull Analyzing ChIP-shy‐seq data13 Alon Goren Anshul Kundaje bull Basic introducRon to accessing ENCODERoadmap Epigenomics

data13 Anshul Kundaje Jiang Zhu Eurie Hong ENCODEEpigenomics Roadmap Workshop ASHG 2013

Page 4: ENCODE and Epigenomics Roadmap Workshop

Common purposes13 1 Create a public resource of data13

bull Experimental data13 available pre-shy‐publicaRon bull Encourage community use of datasets

2 Promote technology development13 bull For epigenomics research bull IdenRficaRon and validaRon of funcRonal elements

3 Development13 of standards bull DefiniRon of metadata13 bull Standards for performing the assaybull Uniform analysis of data13 bull Standards for data13 quality

ENCODEEpigenomics Roadmap Workshop ASHG 2013

What13 data13 types are available RoadmapENCODE13 Epigenomics

ChIP-shy‐seq (transcripRon factors RNA-shy‐bindingproteins)

ChIP-shy‐seq (histone marks)

RNA-shy‐seq

bull

bull bull

bull bull

RNA-shy‐seq aCer shRNAsiRNA knockdown13 bull

DNA methylaRon bull bull

DNAse bull bull

RNA-shy‐binding assays (CLIP-shy‐seq RIP-shy‐seq)13 bull

Enhancer assays bull

5C bull

~3400 ~120 completeTotal data13 datasets epigenomes

ENCODEEpigenomics Roadmap Workshop ASHG 2013

How can the data13 be used Hypothesis generaRon and refinement13 of gene regulaRon

bull What13 are the enhancers and promoter regions for a gene bull What13 is the target13 gene for the regulatory regions bull Is the regulaRon specific for certain cell types

Many geneRc findings for human disease map to non-shy‐protein coding regions of the human genome ENCODE idenRfied regions can help develop hypotheses

bull What13 is the causal variant bull What13 is the funcRon of the variant

ENCODEEpigenomics Roadmap Workshop ASHG 2013

  

ENCODE data access

ConsorLum homepage hTpencodeprojectorgbull View metadata protocols and standardsbull Data visualizaRon at hTpgenomeucscedu hTpensemblorg

NCBI hTpwwwncbinlmnihgovbioproject30707 (human)hTpwwwncbinlmnihgovbioproject50617 (mouse)

bull View and download databull Compare samples

modENCODE hTpmodencodeorgbull View and download data

EENNCCOODDEEEEppiiggeennoomimicscs RoRoaaddmamapp WWoorrkksshhoopp AASSHGHG 22001133

  

  

   

  

Roadmap Epigenomics data13 access ConsorLum13 homepage13 hTproadmapepigenomicsorg bull Genome13 browser13 bull View protocols and standards

NCBI13 hTpncbinlmnihgovepigenomics hTpncbinlmnihgovgeoroadmapepigenomics

bull View and download data13 bull Compare samples

Human13 Epigenome Atlas hTpepigenomeatlasorg bull View data13 on genome or with Atlas gene browser bull Download data13 bull Use13 Genboree Workbench tools

WashU VizHub hTpvizhubwustledu bull Next-shy‐gen browser hTpepigenomegatewaywustledu bull UCSC visualizaRon hub at hTpgenomeucscedu

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Roadmap Epigenomics Mapping ConsorRum

bull Reference Epigenome Mapping Centers Brad Bernstein amp Alex Meissner (Broad) Joe Costello (UCSF)13 Bing13 Ren (UCSD) John Stamatoyannopoulous (Washington)

bull Epigenomics Data13 Analysis and CoordinaRon Center Aleks Milosavljevic (Baylor)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

ENCODE13 ConsorRum ENCODE13 ProducLon13 Centers

Bradley13 Bernstein13 (John Rinn Manolis Kellis)

Thomas13 Gingeras13 (Carrie Davis Roderic Guigo)

Brenton13 Graveley13 (Christopher Burge Xiang-shy‐Dong Fu Eugene Yeo)

Richard Myers (Devin13 Absher Gregory Cooper Shawn Levy FlorenciaPauli Behn Ross Hardison Ali Mortazavi Timothy Reddy Barbara13 Wold)

Bing Ren (Joseph13 Ecker Len13 Pennacchio Axel Visel Wei Wang)

Michael Snyder (Kevin White Sherman Weissman Peggy Farnham)

John Stamatoyannopoulos13 (Ralph Hansen Rajinder Kaul PatrickNavas George Stamatoyannopoulos Piper TreuRng Michael BenderJob Dekker Mark Groudine)13

ENCODE13 Data13 CoordinaLon13 Center

Mike Cherry (Jim Kent)

ENCODE Data Analysis Center

Zhiping Weng (Mark Gerstein Manolis Kellis Roderic Guigo RafaelIrizarry Xiaole Shirley Liu William Stafford Noble)

AddiLonal ENCODE ParLcipants

Timothy Hubbard (Mark Gerstein Roderic Guigo Jen Harrow RachelHarte David Haussler Manolis Kellis Alexandre Reymond StephenSearle Alfonso Valencia)

David Gilbert (Tamer Kahveci)

ENCODE ComputaLonal Analysis Groups

Peter Bickel (Haiyan Huang Leonard Lipovich Bin Yu)

David Gifford (Tommi Jaakkola)13

Sunduz Keles13 (Emery Bresnick13 Colin Dewey)

Robert Klein (ChrisRna13 Leslie Souma13 Raychaudhuri Ross LevineKenneth Offit)13

Jonathan Pritchard (Yoav Gilad)13

Xinshu Xiao

ENCODE13 Technology13 Development13 Groups13

Christopher13 Burge13 (Wendy Gilbert Brenton Graveley Robert13 Horvitz)

Barak13 Cohen and Joseph Corbo

Peggy Farnham (Victor Jin David Jay Segal)

R David Hawkins

ChrisLna Leslie13 (Christopher Mason)

Jason Lieb (Karen Mohlke13 Eran Segal)

Mats Ljungman (Thomas Wilson)

Tarjei Mikkelsen

Jay Shendure and Nadav Ahituv (Michael McManus)

Alexey Wolfson

Guo-shy‐Cheng13 Yuan (Stuart13 Orkin)13

hellip and many senior13 scienLsts postdocs students technicians computer13 scienLsts staLsLcians andadministrators13 in these groups13

Current ENCODE parLcipants13 hNpwwwgenomegov26525220

Future direcRons

1 Shared metadata13 standard among mulRple projects ENCODE modENCODE Roadmap Epigenomics

2 AnnotaRon of metadata13 using ontologies

3 Biologically intuiRve displays of metadata13

4 Easier idenRficaRon of data13 sets using metadata13

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Biologically relevant13 view of metadataEurie Hong (1462T)

about13 the

Protocols and addiRonal documentaRon

Details describing the biosample

De-shy‐idenRfied informaRon donor

Using ontologies for searchingVenkat Malladi (1613F)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Contact13 us

encode-shy‐helplistsstanfordedu

encodedcc

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Speakers

GeneLcs and Genomics of Maternal Glycemia During13 Pregnancy13 New Insights13 from13 Genome Wide Mapping and ENCODEWilliam L Lowe Jr MDProfessor of Medicine and Vice Dean for Academic AffairsNorthwestern University

Expression and RegulaLon of Lung FuncLon Genome-shy‐Wide Associated LocusMaen Obeidat13 PhDPost-shy‐doctoral fellow (PI Peter Pare PhD)University of BriRsh Columbia13

Using the Epigenome Roadmap data to analyze geneLc studies of type 2 diabetesVineeta Agarwala (PhD student PI David Altshuler MD PhD Broad InsRtute)Abhishek Sarkar (PhD student PI Manolis Kellis PhD Broad InsRtute)Kyle13 Gaulton (Post-shy‐doctoral fellow PI Mark McCarthy Peter Donnelly Wellcome Trust13 Centre for Human GeneRcs)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

  

Tutorial bull How can ENCODE data13 help with analysis of SNP data13 from

GWAS studies Jill Moore Luke Ward Robert13 Klein bull How can ENCODE data13 help with annotaRon of non-shy‐coding

variants Jill Moore Ekta Khurana Robert13 Klein bull How can ENCODE data13 help idenRfy how my gene of interest13 is

regulated Alon Goren Brian Lee Adam Frankish (single gene level analysis) Ross Hardison

bull What13 can ENCODE data13 tell me about13 my genes expression levels13 Brian Lee Eurie Hong Adam Frankish (single gene level analysis)

bull How can I use mouse ENCODE data13 in my analyses Feng Yue13 Ross Hardison13 Venkat Malladi

bull Analyzing ChIP-shy‐seq data13 Alon Goren Anshul Kundaje bull Basic introducRon to accessing ENCODERoadmap Epigenomics

data13 Anshul Kundaje Jiang Zhu Eurie Hong ENCODEEpigenomics Roadmap Workshop ASHG 2013

Page 5: ENCODE and Epigenomics Roadmap Workshop

What13 data13 types are available RoadmapENCODE13 Epigenomics

ChIP-shy‐seq (transcripRon factors RNA-shy‐bindingproteins)

ChIP-shy‐seq (histone marks)

RNA-shy‐seq

bull

bull bull

bull bull

RNA-shy‐seq aCer shRNAsiRNA knockdown13 bull

DNA methylaRon bull bull

DNAse bull bull

RNA-shy‐binding assays (CLIP-shy‐seq RIP-shy‐seq)13 bull

Enhancer assays bull

5C bull

~3400 ~120 completeTotal data13 datasets epigenomes

ENCODEEpigenomics Roadmap Workshop ASHG 2013

How can the data13 be used Hypothesis generaRon and refinement13 of gene regulaRon

bull What13 are the enhancers and promoter regions for a gene bull What13 is the target13 gene for the regulatory regions bull Is the regulaRon specific for certain cell types

Many geneRc findings for human disease map to non-shy‐protein coding regions of the human genome ENCODE idenRfied regions can help develop hypotheses

bull What13 is the causal variant bull What13 is the funcRon of the variant

ENCODEEpigenomics Roadmap Workshop ASHG 2013

  

ENCODE data access

ConsorLum homepage hTpencodeprojectorgbull View metadata protocols and standardsbull Data visualizaRon at hTpgenomeucscedu hTpensemblorg

NCBI hTpwwwncbinlmnihgovbioproject30707 (human)hTpwwwncbinlmnihgovbioproject50617 (mouse)

bull View and download databull Compare samples

modENCODE hTpmodencodeorgbull View and download data

EENNCCOODDEEEEppiiggeennoomimicscs RoRoaaddmamapp WWoorrkksshhoopp AASSHGHG 22001133

  

  

   

  

Roadmap Epigenomics data13 access ConsorLum13 homepage13 hTproadmapepigenomicsorg bull Genome13 browser13 bull View protocols and standards

NCBI13 hTpncbinlmnihgovepigenomics hTpncbinlmnihgovgeoroadmapepigenomics

bull View and download data13 bull Compare samples

Human13 Epigenome Atlas hTpepigenomeatlasorg bull View data13 on genome or with Atlas gene browser bull Download data13 bull Use13 Genboree Workbench tools

WashU VizHub hTpvizhubwustledu bull Next-shy‐gen browser hTpepigenomegatewaywustledu bull UCSC visualizaRon hub at hTpgenomeucscedu

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Roadmap Epigenomics Mapping ConsorRum

bull Reference Epigenome Mapping Centers Brad Bernstein amp Alex Meissner (Broad) Joe Costello (UCSF)13 Bing13 Ren (UCSD) John Stamatoyannopoulous (Washington)

bull Epigenomics Data13 Analysis and CoordinaRon Center Aleks Milosavljevic (Baylor)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

ENCODE13 ConsorRum ENCODE13 ProducLon13 Centers

Bradley13 Bernstein13 (John Rinn Manolis Kellis)

Thomas13 Gingeras13 (Carrie Davis Roderic Guigo)

Brenton13 Graveley13 (Christopher Burge Xiang-shy‐Dong Fu Eugene Yeo)

Richard Myers (Devin13 Absher Gregory Cooper Shawn Levy FlorenciaPauli Behn Ross Hardison Ali Mortazavi Timothy Reddy Barbara13 Wold)

Bing Ren (Joseph13 Ecker Len13 Pennacchio Axel Visel Wei Wang)

Michael Snyder (Kevin White Sherman Weissman Peggy Farnham)

John Stamatoyannopoulos13 (Ralph Hansen Rajinder Kaul PatrickNavas George Stamatoyannopoulos Piper TreuRng Michael BenderJob Dekker Mark Groudine)13

ENCODE13 Data13 CoordinaLon13 Center

Mike Cherry (Jim Kent)

ENCODE Data Analysis Center

Zhiping Weng (Mark Gerstein Manolis Kellis Roderic Guigo RafaelIrizarry Xiaole Shirley Liu William Stafford Noble)

AddiLonal ENCODE ParLcipants

Timothy Hubbard (Mark Gerstein Roderic Guigo Jen Harrow RachelHarte David Haussler Manolis Kellis Alexandre Reymond StephenSearle Alfonso Valencia)

David Gilbert (Tamer Kahveci)

ENCODE ComputaLonal Analysis Groups

Peter Bickel (Haiyan Huang Leonard Lipovich Bin Yu)

David Gifford (Tommi Jaakkola)13

Sunduz Keles13 (Emery Bresnick13 Colin Dewey)

Robert Klein (ChrisRna13 Leslie Souma13 Raychaudhuri Ross LevineKenneth Offit)13

Jonathan Pritchard (Yoav Gilad)13

Xinshu Xiao

ENCODE13 Technology13 Development13 Groups13

Christopher13 Burge13 (Wendy Gilbert Brenton Graveley Robert13 Horvitz)

Barak13 Cohen and Joseph Corbo

Peggy Farnham (Victor Jin David Jay Segal)

R David Hawkins

ChrisLna Leslie13 (Christopher Mason)

Jason Lieb (Karen Mohlke13 Eran Segal)

Mats Ljungman (Thomas Wilson)

Tarjei Mikkelsen

Jay Shendure and Nadav Ahituv (Michael McManus)

Alexey Wolfson

Guo-shy‐Cheng13 Yuan (Stuart13 Orkin)13

hellip and many senior13 scienLsts postdocs students technicians computer13 scienLsts staLsLcians andadministrators13 in these groups13

Current ENCODE parLcipants13 hNpwwwgenomegov26525220

Future direcRons

1 Shared metadata13 standard among mulRple projects ENCODE modENCODE Roadmap Epigenomics

2 AnnotaRon of metadata13 using ontologies

3 Biologically intuiRve displays of metadata13

4 Easier idenRficaRon of data13 sets using metadata13

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Biologically relevant13 view of metadataEurie Hong (1462T)

about13 the

Protocols and addiRonal documentaRon

Details describing the biosample

De-shy‐idenRfied informaRon donor

Using ontologies for searchingVenkat Malladi (1613F)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Contact13 us

encode-shy‐helplistsstanfordedu

encodedcc

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Speakers

GeneLcs and Genomics of Maternal Glycemia During13 Pregnancy13 New Insights13 from13 Genome Wide Mapping and ENCODEWilliam L Lowe Jr MDProfessor of Medicine and Vice Dean for Academic AffairsNorthwestern University

Expression and RegulaLon of Lung FuncLon Genome-shy‐Wide Associated LocusMaen Obeidat13 PhDPost-shy‐doctoral fellow (PI Peter Pare PhD)University of BriRsh Columbia13

Using the Epigenome Roadmap data to analyze geneLc studies of type 2 diabetesVineeta Agarwala (PhD student PI David Altshuler MD PhD Broad InsRtute)Abhishek Sarkar (PhD student PI Manolis Kellis PhD Broad InsRtute)Kyle13 Gaulton (Post-shy‐doctoral fellow PI Mark McCarthy Peter Donnelly Wellcome Trust13 Centre for Human GeneRcs)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

  

Tutorial bull How can ENCODE data13 help with analysis of SNP data13 from

GWAS studies Jill Moore Luke Ward Robert13 Klein bull How can ENCODE data13 help with annotaRon of non-shy‐coding

variants Jill Moore Ekta Khurana Robert13 Klein bull How can ENCODE data13 help idenRfy how my gene of interest13 is

regulated Alon Goren Brian Lee Adam Frankish (single gene level analysis) Ross Hardison

bull What13 can ENCODE data13 tell me about13 my genes expression levels13 Brian Lee Eurie Hong Adam Frankish (single gene level analysis)

bull How can I use mouse ENCODE data13 in my analyses Feng Yue13 Ross Hardison13 Venkat Malladi

bull Analyzing ChIP-shy‐seq data13 Alon Goren Anshul Kundaje bull Basic introducRon to accessing ENCODERoadmap Epigenomics

data13 Anshul Kundaje Jiang Zhu Eurie Hong ENCODEEpigenomics Roadmap Workshop ASHG 2013

Page 6: ENCODE and Epigenomics Roadmap Workshop

How can the data13 be used Hypothesis generaRon and refinement13 of gene regulaRon

bull What13 are the enhancers and promoter regions for a gene bull What13 is the target13 gene for the regulatory regions bull Is the regulaRon specific for certain cell types

Many geneRc findings for human disease map to non-shy‐protein coding regions of the human genome ENCODE idenRfied regions can help develop hypotheses

bull What13 is the causal variant bull What13 is the funcRon of the variant

ENCODEEpigenomics Roadmap Workshop ASHG 2013

  

ENCODE data access

ConsorLum homepage hTpencodeprojectorgbull View metadata protocols and standardsbull Data visualizaRon at hTpgenomeucscedu hTpensemblorg

NCBI hTpwwwncbinlmnihgovbioproject30707 (human)hTpwwwncbinlmnihgovbioproject50617 (mouse)

bull View and download databull Compare samples

modENCODE hTpmodencodeorgbull View and download data

EENNCCOODDEEEEppiiggeennoomimicscs RoRoaaddmamapp WWoorrkksshhoopp AASSHGHG 22001133

  

  

   

  

Roadmap Epigenomics data13 access ConsorLum13 homepage13 hTproadmapepigenomicsorg bull Genome13 browser13 bull View protocols and standards

NCBI13 hTpncbinlmnihgovepigenomics hTpncbinlmnihgovgeoroadmapepigenomics

bull View and download data13 bull Compare samples

Human13 Epigenome Atlas hTpepigenomeatlasorg bull View data13 on genome or with Atlas gene browser bull Download data13 bull Use13 Genboree Workbench tools

WashU VizHub hTpvizhubwustledu bull Next-shy‐gen browser hTpepigenomegatewaywustledu bull UCSC visualizaRon hub at hTpgenomeucscedu

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Roadmap Epigenomics Mapping ConsorRum

bull Reference Epigenome Mapping Centers Brad Bernstein amp Alex Meissner (Broad) Joe Costello (UCSF)13 Bing13 Ren (UCSD) John Stamatoyannopoulous (Washington)

bull Epigenomics Data13 Analysis and CoordinaRon Center Aleks Milosavljevic (Baylor)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

ENCODE13 ConsorRum ENCODE13 ProducLon13 Centers

Bradley13 Bernstein13 (John Rinn Manolis Kellis)

Thomas13 Gingeras13 (Carrie Davis Roderic Guigo)

Brenton13 Graveley13 (Christopher Burge Xiang-shy‐Dong Fu Eugene Yeo)

Richard Myers (Devin13 Absher Gregory Cooper Shawn Levy FlorenciaPauli Behn Ross Hardison Ali Mortazavi Timothy Reddy Barbara13 Wold)

Bing Ren (Joseph13 Ecker Len13 Pennacchio Axel Visel Wei Wang)

Michael Snyder (Kevin White Sherman Weissman Peggy Farnham)

John Stamatoyannopoulos13 (Ralph Hansen Rajinder Kaul PatrickNavas George Stamatoyannopoulos Piper TreuRng Michael BenderJob Dekker Mark Groudine)13

ENCODE13 Data13 CoordinaLon13 Center

Mike Cherry (Jim Kent)

ENCODE Data Analysis Center

Zhiping Weng (Mark Gerstein Manolis Kellis Roderic Guigo RafaelIrizarry Xiaole Shirley Liu William Stafford Noble)

AddiLonal ENCODE ParLcipants

Timothy Hubbard (Mark Gerstein Roderic Guigo Jen Harrow RachelHarte David Haussler Manolis Kellis Alexandre Reymond StephenSearle Alfonso Valencia)

David Gilbert (Tamer Kahveci)

ENCODE ComputaLonal Analysis Groups

Peter Bickel (Haiyan Huang Leonard Lipovich Bin Yu)

David Gifford (Tommi Jaakkola)13

Sunduz Keles13 (Emery Bresnick13 Colin Dewey)

Robert Klein (ChrisRna13 Leslie Souma13 Raychaudhuri Ross LevineKenneth Offit)13

Jonathan Pritchard (Yoav Gilad)13

Xinshu Xiao

ENCODE13 Technology13 Development13 Groups13

Christopher13 Burge13 (Wendy Gilbert Brenton Graveley Robert13 Horvitz)

Barak13 Cohen and Joseph Corbo

Peggy Farnham (Victor Jin David Jay Segal)

R David Hawkins

ChrisLna Leslie13 (Christopher Mason)

Jason Lieb (Karen Mohlke13 Eran Segal)

Mats Ljungman (Thomas Wilson)

Tarjei Mikkelsen

Jay Shendure and Nadav Ahituv (Michael McManus)

Alexey Wolfson

Guo-shy‐Cheng13 Yuan (Stuart13 Orkin)13

hellip and many senior13 scienLsts postdocs students technicians computer13 scienLsts staLsLcians andadministrators13 in these groups13

Current ENCODE parLcipants13 hNpwwwgenomegov26525220

Future direcRons

1 Shared metadata13 standard among mulRple projects ENCODE modENCODE Roadmap Epigenomics

2 AnnotaRon of metadata13 using ontologies

3 Biologically intuiRve displays of metadata13

4 Easier idenRficaRon of data13 sets using metadata13

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Biologically relevant13 view of metadataEurie Hong (1462T)

about13 the

Protocols and addiRonal documentaRon

Details describing the biosample

De-shy‐idenRfied informaRon donor

Using ontologies for searchingVenkat Malladi (1613F)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Contact13 us

encode-shy‐helplistsstanfordedu

encodedcc

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Speakers

GeneLcs and Genomics of Maternal Glycemia During13 Pregnancy13 New Insights13 from13 Genome Wide Mapping and ENCODEWilliam L Lowe Jr MDProfessor of Medicine and Vice Dean for Academic AffairsNorthwestern University

Expression and RegulaLon of Lung FuncLon Genome-shy‐Wide Associated LocusMaen Obeidat13 PhDPost-shy‐doctoral fellow (PI Peter Pare PhD)University of BriRsh Columbia13

Using the Epigenome Roadmap data to analyze geneLc studies of type 2 diabetesVineeta Agarwala (PhD student PI David Altshuler MD PhD Broad InsRtute)Abhishek Sarkar (PhD student PI Manolis Kellis PhD Broad InsRtute)Kyle13 Gaulton (Post-shy‐doctoral fellow PI Mark McCarthy Peter Donnelly Wellcome Trust13 Centre for Human GeneRcs)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

  

Tutorial bull How can ENCODE data13 help with analysis of SNP data13 from

GWAS studies Jill Moore Luke Ward Robert13 Klein bull How can ENCODE data13 help with annotaRon of non-shy‐coding

variants Jill Moore Ekta Khurana Robert13 Klein bull How can ENCODE data13 help idenRfy how my gene of interest13 is

regulated Alon Goren Brian Lee Adam Frankish (single gene level analysis) Ross Hardison

bull What13 can ENCODE data13 tell me about13 my genes expression levels13 Brian Lee Eurie Hong Adam Frankish (single gene level analysis)

bull How can I use mouse ENCODE data13 in my analyses Feng Yue13 Ross Hardison13 Venkat Malladi

bull Analyzing ChIP-shy‐seq data13 Alon Goren Anshul Kundaje bull Basic introducRon to accessing ENCODERoadmap Epigenomics

data13 Anshul Kundaje Jiang Zhu Eurie Hong ENCODEEpigenomics Roadmap Workshop ASHG 2013

Page 7: ENCODE and Epigenomics Roadmap Workshop

  

ENCODE data access

ConsorLum homepage hTpencodeprojectorgbull View metadata protocols and standardsbull Data visualizaRon at hTpgenomeucscedu hTpensemblorg

NCBI hTpwwwncbinlmnihgovbioproject30707 (human)hTpwwwncbinlmnihgovbioproject50617 (mouse)

bull View and download databull Compare samples

modENCODE hTpmodencodeorgbull View and download data

EENNCCOODDEEEEppiiggeennoomimicscs RoRoaaddmamapp WWoorrkksshhoopp AASSHGHG 22001133

  

  

   

  

Roadmap Epigenomics data13 access ConsorLum13 homepage13 hTproadmapepigenomicsorg bull Genome13 browser13 bull View protocols and standards

NCBI13 hTpncbinlmnihgovepigenomics hTpncbinlmnihgovgeoroadmapepigenomics

bull View and download data13 bull Compare samples

Human13 Epigenome Atlas hTpepigenomeatlasorg bull View data13 on genome or with Atlas gene browser bull Download data13 bull Use13 Genboree Workbench tools

WashU VizHub hTpvizhubwustledu bull Next-shy‐gen browser hTpepigenomegatewaywustledu bull UCSC visualizaRon hub at hTpgenomeucscedu

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Roadmap Epigenomics Mapping ConsorRum

bull Reference Epigenome Mapping Centers Brad Bernstein amp Alex Meissner (Broad) Joe Costello (UCSF)13 Bing13 Ren (UCSD) John Stamatoyannopoulous (Washington)

bull Epigenomics Data13 Analysis and CoordinaRon Center Aleks Milosavljevic (Baylor)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

ENCODE13 ConsorRum ENCODE13 ProducLon13 Centers

Bradley13 Bernstein13 (John Rinn Manolis Kellis)

Thomas13 Gingeras13 (Carrie Davis Roderic Guigo)

Brenton13 Graveley13 (Christopher Burge Xiang-shy‐Dong Fu Eugene Yeo)

Richard Myers (Devin13 Absher Gregory Cooper Shawn Levy FlorenciaPauli Behn Ross Hardison Ali Mortazavi Timothy Reddy Barbara13 Wold)

Bing Ren (Joseph13 Ecker Len13 Pennacchio Axel Visel Wei Wang)

Michael Snyder (Kevin White Sherman Weissman Peggy Farnham)

John Stamatoyannopoulos13 (Ralph Hansen Rajinder Kaul PatrickNavas George Stamatoyannopoulos Piper TreuRng Michael BenderJob Dekker Mark Groudine)13

ENCODE13 Data13 CoordinaLon13 Center

Mike Cherry (Jim Kent)

ENCODE Data Analysis Center

Zhiping Weng (Mark Gerstein Manolis Kellis Roderic Guigo RafaelIrizarry Xiaole Shirley Liu William Stafford Noble)

AddiLonal ENCODE ParLcipants

Timothy Hubbard (Mark Gerstein Roderic Guigo Jen Harrow RachelHarte David Haussler Manolis Kellis Alexandre Reymond StephenSearle Alfonso Valencia)

David Gilbert (Tamer Kahveci)

ENCODE ComputaLonal Analysis Groups

Peter Bickel (Haiyan Huang Leonard Lipovich Bin Yu)

David Gifford (Tommi Jaakkola)13

Sunduz Keles13 (Emery Bresnick13 Colin Dewey)

Robert Klein (ChrisRna13 Leslie Souma13 Raychaudhuri Ross LevineKenneth Offit)13

Jonathan Pritchard (Yoav Gilad)13

Xinshu Xiao

ENCODE13 Technology13 Development13 Groups13

Christopher13 Burge13 (Wendy Gilbert Brenton Graveley Robert13 Horvitz)

Barak13 Cohen and Joseph Corbo

Peggy Farnham (Victor Jin David Jay Segal)

R David Hawkins

ChrisLna Leslie13 (Christopher Mason)

Jason Lieb (Karen Mohlke13 Eran Segal)

Mats Ljungman (Thomas Wilson)

Tarjei Mikkelsen

Jay Shendure and Nadav Ahituv (Michael McManus)

Alexey Wolfson

Guo-shy‐Cheng13 Yuan (Stuart13 Orkin)13

hellip and many senior13 scienLsts postdocs students technicians computer13 scienLsts staLsLcians andadministrators13 in these groups13

Current ENCODE parLcipants13 hNpwwwgenomegov26525220

Future direcRons

1 Shared metadata13 standard among mulRple projects ENCODE modENCODE Roadmap Epigenomics

2 AnnotaRon of metadata13 using ontologies

3 Biologically intuiRve displays of metadata13

4 Easier idenRficaRon of data13 sets using metadata13

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Biologically relevant13 view of metadataEurie Hong (1462T)

about13 the

Protocols and addiRonal documentaRon

Details describing the biosample

De-shy‐idenRfied informaRon donor

Using ontologies for searchingVenkat Malladi (1613F)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Contact13 us

encode-shy‐helplistsstanfordedu

encodedcc

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Speakers

GeneLcs and Genomics of Maternal Glycemia During13 Pregnancy13 New Insights13 from13 Genome Wide Mapping and ENCODEWilliam L Lowe Jr MDProfessor of Medicine and Vice Dean for Academic AffairsNorthwestern University

Expression and RegulaLon of Lung FuncLon Genome-shy‐Wide Associated LocusMaen Obeidat13 PhDPost-shy‐doctoral fellow (PI Peter Pare PhD)University of BriRsh Columbia13

Using the Epigenome Roadmap data to analyze geneLc studies of type 2 diabetesVineeta Agarwala (PhD student PI David Altshuler MD PhD Broad InsRtute)Abhishek Sarkar (PhD student PI Manolis Kellis PhD Broad InsRtute)Kyle13 Gaulton (Post-shy‐doctoral fellow PI Mark McCarthy Peter Donnelly Wellcome Trust13 Centre for Human GeneRcs)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

  

Tutorial bull How can ENCODE data13 help with analysis of SNP data13 from

GWAS studies Jill Moore Luke Ward Robert13 Klein bull How can ENCODE data13 help with annotaRon of non-shy‐coding

variants Jill Moore Ekta Khurana Robert13 Klein bull How can ENCODE data13 help idenRfy how my gene of interest13 is

regulated Alon Goren Brian Lee Adam Frankish (single gene level analysis) Ross Hardison

bull What13 can ENCODE data13 tell me about13 my genes expression levels13 Brian Lee Eurie Hong Adam Frankish (single gene level analysis)

bull How can I use mouse ENCODE data13 in my analyses Feng Yue13 Ross Hardison13 Venkat Malladi

bull Analyzing ChIP-shy‐seq data13 Alon Goren Anshul Kundaje bull Basic introducRon to accessing ENCODERoadmap Epigenomics

data13 Anshul Kundaje Jiang Zhu Eurie Hong ENCODEEpigenomics Roadmap Workshop ASHG 2013

Page 8: ENCODE and Epigenomics Roadmap Workshop

  

  

   

  

Roadmap Epigenomics data13 access ConsorLum13 homepage13 hTproadmapepigenomicsorg bull Genome13 browser13 bull View protocols and standards

NCBI13 hTpncbinlmnihgovepigenomics hTpncbinlmnihgovgeoroadmapepigenomics

bull View and download data13 bull Compare samples

Human13 Epigenome Atlas hTpepigenomeatlasorg bull View data13 on genome or with Atlas gene browser bull Download data13 bull Use13 Genboree Workbench tools

WashU VizHub hTpvizhubwustledu bull Next-shy‐gen browser hTpepigenomegatewaywustledu bull UCSC visualizaRon hub at hTpgenomeucscedu

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Roadmap Epigenomics Mapping ConsorRum

bull Reference Epigenome Mapping Centers Brad Bernstein amp Alex Meissner (Broad) Joe Costello (UCSF)13 Bing13 Ren (UCSD) John Stamatoyannopoulous (Washington)

bull Epigenomics Data13 Analysis and CoordinaRon Center Aleks Milosavljevic (Baylor)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

ENCODE13 ConsorRum ENCODE13 ProducLon13 Centers

Bradley13 Bernstein13 (John Rinn Manolis Kellis)

Thomas13 Gingeras13 (Carrie Davis Roderic Guigo)

Brenton13 Graveley13 (Christopher Burge Xiang-shy‐Dong Fu Eugene Yeo)

Richard Myers (Devin13 Absher Gregory Cooper Shawn Levy FlorenciaPauli Behn Ross Hardison Ali Mortazavi Timothy Reddy Barbara13 Wold)

Bing Ren (Joseph13 Ecker Len13 Pennacchio Axel Visel Wei Wang)

Michael Snyder (Kevin White Sherman Weissman Peggy Farnham)

John Stamatoyannopoulos13 (Ralph Hansen Rajinder Kaul PatrickNavas George Stamatoyannopoulos Piper TreuRng Michael BenderJob Dekker Mark Groudine)13

ENCODE13 Data13 CoordinaLon13 Center

Mike Cherry (Jim Kent)

ENCODE Data Analysis Center

Zhiping Weng (Mark Gerstein Manolis Kellis Roderic Guigo RafaelIrizarry Xiaole Shirley Liu William Stafford Noble)

AddiLonal ENCODE ParLcipants

Timothy Hubbard (Mark Gerstein Roderic Guigo Jen Harrow RachelHarte David Haussler Manolis Kellis Alexandre Reymond StephenSearle Alfonso Valencia)

David Gilbert (Tamer Kahveci)

ENCODE ComputaLonal Analysis Groups

Peter Bickel (Haiyan Huang Leonard Lipovich Bin Yu)

David Gifford (Tommi Jaakkola)13

Sunduz Keles13 (Emery Bresnick13 Colin Dewey)

Robert Klein (ChrisRna13 Leslie Souma13 Raychaudhuri Ross LevineKenneth Offit)13

Jonathan Pritchard (Yoav Gilad)13

Xinshu Xiao

ENCODE13 Technology13 Development13 Groups13

Christopher13 Burge13 (Wendy Gilbert Brenton Graveley Robert13 Horvitz)

Barak13 Cohen and Joseph Corbo

Peggy Farnham (Victor Jin David Jay Segal)

R David Hawkins

ChrisLna Leslie13 (Christopher Mason)

Jason Lieb (Karen Mohlke13 Eran Segal)

Mats Ljungman (Thomas Wilson)

Tarjei Mikkelsen

Jay Shendure and Nadav Ahituv (Michael McManus)

Alexey Wolfson

Guo-shy‐Cheng13 Yuan (Stuart13 Orkin)13

hellip and many senior13 scienLsts postdocs students technicians computer13 scienLsts staLsLcians andadministrators13 in these groups13

Current ENCODE parLcipants13 hNpwwwgenomegov26525220

Future direcRons

1 Shared metadata13 standard among mulRple projects ENCODE modENCODE Roadmap Epigenomics

2 AnnotaRon of metadata13 using ontologies

3 Biologically intuiRve displays of metadata13

4 Easier idenRficaRon of data13 sets using metadata13

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Biologically relevant13 view of metadataEurie Hong (1462T)

about13 the

Protocols and addiRonal documentaRon

Details describing the biosample

De-shy‐idenRfied informaRon donor

Using ontologies for searchingVenkat Malladi (1613F)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Contact13 us

encode-shy‐helplistsstanfordedu

encodedcc

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Speakers

GeneLcs and Genomics of Maternal Glycemia During13 Pregnancy13 New Insights13 from13 Genome Wide Mapping and ENCODEWilliam L Lowe Jr MDProfessor of Medicine and Vice Dean for Academic AffairsNorthwestern University

Expression and RegulaLon of Lung FuncLon Genome-shy‐Wide Associated LocusMaen Obeidat13 PhDPost-shy‐doctoral fellow (PI Peter Pare PhD)University of BriRsh Columbia13

Using the Epigenome Roadmap data to analyze geneLc studies of type 2 diabetesVineeta Agarwala (PhD student PI David Altshuler MD PhD Broad InsRtute)Abhishek Sarkar (PhD student PI Manolis Kellis PhD Broad InsRtute)Kyle13 Gaulton (Post-shy‐doctoral fellow PI Mark McCarthy Peter Donnelly Wellcome Trust13 Centre for Human GeneRcs)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

  

Tutorial bull How can ENCODE data13 help with analysis of SNP data13 from

GWAS studies Jill Moore Luke Ward Robert13 Klein bull How can ENCODE data13 help with annotaRon of non-shy‐coding

variants Jill Moore Ekta Khurana Robert13 Klein bull How can ENCODE data13 help idenRfy how my gene of interest13 is

regulated Alon Goren Brian Lee Adam Frankish (single gene level analysis) Ross Hardison

bull What13 can ENCODE data13 tell me about13 my genes expression levels13 Brian Lee Eurie Hong Adam Frankish (single gene level analysis)

bull How can I use mouse ENCODE data13 in my analyses Feng Yue13 Ross Hardison13 Venkat Malladi

bull Analyzing ChIP-shy‐seq data13 Alon Goren Anshul Kundaje bull Basic introducRon to accessing ENCODERoadmap Epigenomics

data13 Anshul Kundaje Jiang Zhu Eurie Hong ENCODEEpigenomics Roadmap Workshop ASHG 2013

Page 9: ENCODE and Epigenomics Roadmap Workshop

Roadmap Epigenomics Mapping ConsorRum

bull Reference Epigenome Mapping Centers Brad Bernstein amp Alex Meissner (Broad) Joe Costello (UCSF)13 Bing13 Ren (UCSD) John Stamatoyannopoulous (Washington)

bull Epigenomics Data13 Analysis and CoordinaRon Center Aleks Milosavljevic (Baylor)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

ENCODE13 ConsorRum ENCODE13 ProducLon13 Centers

Bradley13 Bernstein13 (John Rinn Manolis Kellis)

Thomas13 Gingeras13 (Carrie Davis Roderic Guigo)

Brenton13 Graveley13 (Christopher Burge Xiang-shy‐Dong Fu Eugene Yeo)

Richard Myers (Devin13 Absher Gregory Cooper Shawn Levy FlorenciaPauli Behn Ross Hardison Ali Mortazavi Timothy Reddy Barbara13 Wold)

Bing Ren (Joseph13 Ecker Len13 Pennacchio Axel Visel Wei Wang)

Michael Snyder (Kevin White Sherman Weissman Peggy Farnham)

John Stamatoyannopoulos13 (Ralph Hansen Rajinder Kaul PatrickNavas George Stamatoyannopoulos Piper TreuRng Michael BenderJob Dekker Mark Groudine)13

ENCODE13 Data13 CoordinaLon13 Center

Mike Cherry (Jim Kent)

ENCODE Data Analysis Center

Zhiping Weng (Mark Gerstein Manolis Kellis Roderic Guigo RafaelIrizarry Xiaole Shirley Liu William Stafford Noble)

AddiLonal ENCODE ParLcipants

Timothy Hubbard (Mark Gerstein Roderic Guigo Jen Harrow RachelHarte David Haussler Manolis Kellis Alexandre Reymond StephenSearle Alfonso Valencia)

David Gilbert (Tamer Kahveci)

ENCODE ComputaLonal Analysis Groups

Peter Bickel (Haiyan Huang Leonard Lipovich Bin Yu)

David Gifford (Tommi Jaakkola)13

Sunduz Keles13 (Emery Bresnick13 Colin Dewey)

Robert Klein (ChrisRna13 Leslie Souma13 Raychaudhuri Ross LevineKenneth Offit)13

Jonathan Pritchard (Yoav Gilad)13

Xinshu Xiao

ENCODE13 Technology13 Development13 Groups13

Christopher13 Burge13 (Wendy Gilbert Brenton Graveley Robert13 Horvitz)

Barak13 Cohen and Joseph Corbo

Peggy Farnham (Victor Jin David Jay Segal)

R David Hawkins

ChrisLna Leslie13 (Christopher Mason)

Jason Lieb (Karen Mohlke13 Eran Segal)

Mats Ljungman (Thomas Wilson)

Tarjei Mikkelsen

Jay Shendure and Nadav Ahituv (Michael McManus)

Alexey Wolfson

Guo-shy‐Cheng13 Yuan (Stuart13 Orkin)13

hellip and many senior13 scienLsts postdocs students technicians computer13 scienLsts staLsLcians andadministrators13 in these groups13

Current ENCODE parLcipants13 hNpwwwgenomegov26525220

Future direcRons

1 Shared metadata13 standard among mulRple projects ENCODE modENCODE Roadmap Epigenomics

2 AnnotaRon of metadata13 using ontologies

3 Biologically intuiRve displays of metadata13

4 Easier idenRficaRon of data13 sets using metadata13

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Biologically relevant13 view of metadataEurie Hong (1462T)

about13 the

Protocols and addiRonal documentaRon

Details describing the biosample

De-shy‐idenRfied informaRon donor

Using ontologies for searchingVenkat Malladi (1613F)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Contact13 us

encode-shy‐helplistsstanfordedu

encodedcc

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Speakers

GeneLcs and Genomics of Maternal Glycemia During13 Pregnancy13 New Insights13 from13 Genome Wide Mapping and ENCODEWilliam L Lowe Jr MDProfessor of Medicine and Vice Dean for Academic AffairsNorthwestern University

Expression and RegulaLon of Lung FuncLon Genome-shy‐Wide Associated LocusMaen Obeidat13 PhDPost-shy‐doctoral fellow (PI Peter Pare PhD)University of BriRsh Columbia13

Using the Epigenome Roadmap data to analyze geneLc studies of type 2 diabetesVineeta Agarwala (PhD student PI David Altshuler MD PhD Broad InsRtute)Abhishek Sarkar (PhD student PI Manolis Kellis PhD Broad InsRtute)Kyle13 Gaulton (Post-shy‐doctoral fellow PI Mark McCarthy Peter Donnelly Wellcome Trust13 Centre for Human GeneRcs)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

  

Tutorial bull How can ENCODE data13 help with analysis of SNP data13 from

GWAS studies Jill Moore Luke Ward Robert13 Klein bull How can ENCODE data13 help with annotaRon of non-shy‐coding

variants Jill Moore Ekta Khurana Robert13 Klein bull How can ENCODE data13 help idenRfy how my gene of interest13 is

regulated Alon Goren Brian Lee Adam Frankish (single gene level analysis) Ross Hardison

bull What13 can ENCODE data13 tell me about13 my genes expression levels13 Brian Lee Eurie Hong Adam Frankish (single gene level analysis)

bull How can I use mouse ENCODE data13 in my analyses Feng Yue13 Ross Hardison13 Venkat Malladi

bull Analyzing ChIP-shy‐seq data13 Alon Goren Anshul Kundaje bull Basic introducRon to accessing ENCODERoadmap Epigenomics

data13 Anshul Kundaje Jiang Zhu Eurie Hong ENCODEEpigenomics Roadmap Workshop ASHG 2013

Page 10: ENCODE and Epigenomics Roadmap Workshop

ENCODE13 ConsorRum ENCODE13 ProducLon13 Centers

Bradley13 Bernstein13 (John Rinn Manolis Kellis)

Thomas13 Gingeras13 (Carrie Davis Roderic Guigo)

Brenton13 Graveley13 (Christopher Burge Xiang-shy‐Dong Fu Eugene Yeo)

Richard Myers (Devin13 Absher Gregory Cooper Shawn Levy FlorenciaPauli Behn Ross Hardison Ali Mortazavi Timothy Reddy Barbara13 Wold)

Bing Ren (Joseph13 Ecker Len13 Pennacchio Axel Visel Wei Wang)

Michael Snyder (Kevin White Sherman Weissman Peggy Farnham)

John Stamatoyannopoulos13 (Ralph Hansen Rajinder Kaul PatrickNavas George Stamatoyannopoulos Piper TreuRng Michael BenderJob Dekker Mark Groudine)13

ENCODE13 Data13 CoordinaLon13 Center

Mike Cherry (Jim Kent)

ENCODE Data Analysis Center

Zhiping Weng (Mark Gerstein Manolis Kellis Roderic Guigo RafaelIrizarry Xiaole Shirley Liu William Stafford Noble)

AddiLonal ENCODE ParLcipants

Timothy Hubbard (Mark Gerstein Roderic Guigo Jen Harrow RachelHarte David Haussler Manolis Kellis Alexandre Reymond StephenSearle Alfonso Valencia)

David Gilbert (Tamer Kahveci)

ENCODE ComputaLonal Analysis Groups

Peter Bickel (Haiyan Huang Leonard Lipovich Bin Yu)

David Gifford (Tommi Jaakkola)13

Sunduz Keles13 (Emery Bresnick13 Colin Dewey)

Robert Klein (ChrisRna13 Leslie Souma13 Raychaudhuri Ross LevineKenneth Offit)13

Jonathan Pritchard (Yoav Gilad)13

Xinshu Xiao

ENCODE13 Technology13 Development13 Groups13

Christopher13 Burge13 (Wendy Gilbert Brenton Graveley Robert13 Horvitz)

Barak13 Cohen and Joseph Corbo

Peggy Farnham (Victor Jin David Jay Segal)

R David Hawkins

ChrisLna Leslie13 (Christopher Mason)

Jason Lieb (Karen Mohlke13 Eran Segal)

Mats Ljungman (Thomas Wilson)

Tarjei Mikkelsen

Jay Shendure and Nadav Ahituv (Michael McManus)

Alexey Wolfson

Guo-shy‐Cheng13 Yuan (Stuart13 Orkin)13

hellip and many senior13 scienLsts postdocs students technicians computer13 scienLsts staLsLcians andadministrators13 in these groups13

Current ENCODE parLcipants13 hNpwwwgenomegov26525220

Future direcRons

1 Shared metadata13 standard among mulRple projects ENCODE modENCODE Roadmap Epigenomics

2 AnnotaRon of metadata13 using ontologies

3 Biologically intuiRve displays of metadata13

4 Easier idenRficaRon of data13 sets using metadata13

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Biologically relevant13 view of metadataEurie Hong (1462T)

about13 the

Protocols and addiRonal documentaRon

Details describing the biosample

De-shy‐idenRfied informaRon donor

Using ontologies for searchingVenkat Malladi (1613F)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Contact13 us

encode-shy‐helplistsstanfordedu

encodedcc

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Speakers

GeneLcs and Genomics of Maternal Glycemia During13 Pregnancy13 New Insights13 from13 Genome Wide Mapping and ENCODEWilliam L Lowe Jr MDProfessor of Medicine and Vice Dean for Academic AffairsNorthwestern University

Expression and RegulaLon of Lung FuncLon Genome-shy‐Wide Associated LocusMaen Obeidat13 PhDPost-shy‐doctoral fellow (PI Peter Pare PhD)University of BriRsh Columbia13

Using the Epigenome Roadmap data to analyze geneLc studies of type 2 diabetesVineeta Agarwala (PhD student PI David Altshuler MD PhD Broad InsRtute)Abhishek Sarkar (PhD student PI Manolis Kellis PhD Broad InsRtute)Kyle13 Gaulton (Post-shy‐doctoral fellow PI Mark McCarthy Peter Donnelly Wellcome Trust13 Centre for Human GeneRcs)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

  

Tutorial bull How can ENCODE data13 help with analysis of SNP data13 from

GWAS studies Jill Moore Luke Ward Robert13 Klein bull How can ENCODE data13 help with annotaRon of non-shy‐coding

variants Jill Moore Ekta Khurana Robert13 Klein bull How can ENCODE data13 help idenRfy how my gene of interest13 is

regulated Alon Goren Brian Lee Adam Frankish (single gene level analysis) Ross Hardison

bull What13 can ENCODE data13 tell me about13 my genes expression levels13 Brian Lee Eurie Hong Adam Frankish (single gene level analysis)

bull How can I use mouse ENCODE data13 in my analyses Feng Yue13 Ross Hardison13 Venkat Malladi

bull Analyzing ChIP-shy‐seq data13 Alon Goren Anshul Kundaje bull Basic introducRon to accessing ENCODERoadmap Epigenomics

data13 Anshul Kundaje Jiang Zhu Eurie Hong ENCODEEpigenomics Roadmap Workshop ASHG 2013

Page 11: ENCODE and Epigenomics Roadmap Workshop

Future direcRons

1 Shared metadata13 standard among mulRple projects ENCODE modENCODE Roadmap Epigenomics

2 AnnotaRon of metadata13 using ontologies

3 Biologically intuiRve displays of metadata13

4 Easier idenRficaRon of data13 sets using metadata13

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Biologically relevant13 view of metadataEurie Hong (1462T)

about13 the

Protocols and addiRonal documentaRon

Details describing the biosample

De-shy‐idenRfied informaRon donor

Using ontologies for searchingVenkat Malladi (1613F)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Contact13 us

encode-shy‐helplistsstanfordedu

encodedcc

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Speakers

GeneLcs and Genomics of Maternal Glycemia During13 Pregnancy13 New Insights13 from13 Genome Wide Mapping and ENCODEWilliam L Lowe Jr MDProfessor of Medicine and Vice Dean for Academic AffairsNorthwestern University

Expression and RegulaLon of Lung FuncLon Genome-shy‐Wide Associated LocusMaen Obeidat13 PhDPost-shy‐doctoral fellow (PI Peter Pare PhD)University of BriRsh Columbia13

Using the Epigenome Roadmap data to analyze geneLc studies of type 2 diabetesVineeta Agarwala (PhD student PI David Altshuler MD PhD Broad InsRtute)Abhishek Sarkar (PhD student PI Manolis Kellis PhD Broad InsRtute)Kyle13 Gaulton (Post-shy‐doctoral fellow PI Mark McCarthy Peter Donnelly Wellcome Trust13 Centre for Human GeneRcs)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

  

Tutorial bull How can ENCODE data13 help with analysis of SNP data13 from

GWAS studies Jill Moore Luke Ward Robert13 Klein bull How can ENCODE data13 help with annotaRon of non-shy‐coding

variants Jill Moore Ekta Khurana Robert13 Klein bull How can ENCODE data13 help idenRfy how my gene of interest13 is

regulated Alon Goren Brian Lee Adam Frankish (single gene level analysis) Ross Hardison

bull What13 can ENCODE data13 tell me about13 my genes expression levels13 Brian Lee Eurie Hong Adam Frankish (single gene level analysis)

bull How can I use mouse ENCODE data13 in my analyses Feng Yue13 Ross Hardison13 Venkat Malladi

bull Analyzing ChIP-shy‐seq data13 Alon Goren Anshul Kundaje bull Basic introducRon to accessing ENCODERoadmap Epigenomics

data13 Anshul Kundaje Jiang Zhu Eurie Hong ENCODEEpigenomics Roadmap Workshop ASHG 2013

Page 12: ENCODE and Epigenomics Roadmap Workshop

Biologically relevant13 view of metadataEurie Hong (1462T)

about13 the

Protocols and addiRonal documentaRon

Details describing the biosample

De-shy‐idenRfied informaRon donor

Using ontologies for searchingVenkat Malladi (1613F)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Contact13 us

encode-shy‐helplistsstanfordedu

encodedcc

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Speakers

GeneLcs and Genomics of Maternal Glycemia During13 Pregnancy13 New Insights13 from13 Genome Wide Mapping and ENCODEWilliam L Lowe Jr MDProfessor of Medicine and Vice Dean for Academic AffairsNorthwestern University

Expression and RegulaLon of Lung FuncLon Genome-shy‐Wide Associated LocusMaen Obeidat13 PhDPost-shy‐doctoral fellow (PI Peter Pare PhD)University of BriRsh Columbia13

Using the Epigenome Roadmap data to analyze geneLc studies of type 2 diabetesVineeta Agarwala (PhD student PI David Altshuler MD PhD Broad InsRtute)Abhishek Sarkar (PhD student PI Manolis Kellis PhD Broad InsRtute)Kyle13 Gaulton (Post-shy‐doctoral fellow PI Mark McCarthy Peter Donnelly Wellcome Trust13 Centre for Human GeneRcs)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

  

Tutorial bull How can ENCODE data13 help with analysis of SNP data13 from

GWAS studies Jill Moore Luke Ward Robert13 Klein bull How can ENCODE data13 help with annotaRon of non-shy‐coding

variants Jill Moore Ekta Khurana Robert13 Klein bull How can ENCODE data13 help idenRfy how my gene of interest13 is

regulated Alon Goren Brian Lee Adam Frankish (single gene level analysis) Ross Hardison

bull What13 can ENCODE data13 tell me about13 my genes expression levels13 Brian Lee Eurie Hong Adam Frankish (single gene level analysis)

bull How can I use mouse ENCODE data13 in my analyses Feng Yue13 Ross Hardison13 Venkat Malladi

bull Analyzing ChIP-shy‐seq data13 Alon Goren Anshul Kundaje bull Basic introducRon to accessing ENCODERoadmap Epigenomics

data13 Anshul Kundaje Jiang Zhu Eurie Hong ENCODEEpigenomics Roadmap Workshop ASHG 2013

Page 13: ENCODE and Epigenomics Roadmap Workshop

Using ontologies for searchingVenkat Malladi (1613F)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Contact13 us

encode-shy‐helplistsstanfordedu

encodedcc

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Speakers

GeneLcs and Genomics of Maternal Glycemia During13 Pregnancy13 New Insights13 from13 Genome Wide Mapping and ENCODEWilliam L Lowe Jr MDProfessor of Medicine and Vice Dean for Academic AffairsNorthwestern University

Expression and RegulaLon of Lung FuncLon Genome-shy‐Wide Associated LocusMaen Obeidat13 PhDPost-shy‐doctoral fellow (PI Peter Pare PhD)University of BriRsh Columbia13

Using the Epigenome Roadmap data to analyze geneLc studies of type 2 diabetesVineeta Agarwala (PhD student PI David Altshuler MD PhD Broad InsRtute)Abhishek Sarkar (PhD student PI Manolis Kellis PhD Broad InsRtute)Kyle13 Gaulton (Post-shy‐doctoral fellow PI Mark McCarthy Peter Donnelly Wellcome Trust13 Centre for Human GeneRcs)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

  

Tutorial bull How can ENCODE data13 help with analysis of SNP data13 from

GWAS studies Jill Moore Luke Ward Robert13 Klein bull How can ENCODE data13 help with annotaRon of non-shy‐coding

variants Jill Moore Ekta Khurana Robert13 Klein bull How can ENCODE data13 help idenRfy how my gene of interest13 is

regulated Alon Goren Brian Lee Adam Frankish (single gene level analysis) Ross Hardison

bull What13 can ENCODE data13 tell me about13 my genes expression levels13 Brian Lee Eurie Hong Adam Frankish (single gene level analysis)

bull How can I use mouse ENCODE data13 in my analyses Feng Yue13 Ross Hardison13 Venkat Malladi

bull Analyzing ChIP-shy‐seq data13 Alon Goren Anshul Kundaje bull Basic introducRon to accessing ENCODERoadmap Epigenomics

data13 Anshul Kundaje Jiang Zhu Eurie Hong ENCODEEpigenomics Roadmap Workshop ASHG 2013

Page 14: ENCODE and Epigenomics Roadmap Workshop

Contact13 us

encode-shy‐helplistsstanfordedu

encodedcc

ENCODEEpigenomics Roadmap Workshop ASHG 2013

Speakers

GeneLcs and Genomics of Maternal Glycemia During13 Pregnancy13 New Insights13 from13 Genome Wide Mapping and ENCODEWilliam L Lowe Jr MDProfessor of Medicine and Vice Dean for Academic AffairsNorthwestern University

Expression and RegulaLon of Lung FuncLon Genome-shy‐Wide Associated LocusMaen Obeidat13 PhDPost-shy‐doctoral fellow (PI Peter Pare PhD)University of BriRsh Columbia13

Using the Epigenome Roadmap data to analyze geneLc studies of type 2 diabetesVineeta Agarwala (PhD student PI David Altshuler MD PhD Broad InsRtute)Abhishek Sarkar (PhD student PI Manolis Kellis PhD Broad InsRtute)Kyle13 Gaulton (Post-shy‐doctoral fellow PI Mark McCarthy Peter Donnelly Wellcome Trust13 Centre for Human GeneRcs)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

  

Tutorial bull How can ENCODE data13 help with analysis of SNP data13 from

GWAS studies Jill Moore Luke Ward Robert13 Klein bull How can ENCODE data13 help with annotaRon of non-shy‐coding

variants Jill Moore Ekta Khurana Robert13 Klein bull How can ENCODE data13 help idenRfy how my gene of interest13 is

regulated Alon Goren Brian Lee Adam Frankish (single gene level analysis) Ross Hardison

bull What13 can ENCODE data13 tell me about13 my genes expression levels13 Brian Lee Eurie Hong Adam Frankish (single gene level analysis)

bull How can I use mouse ENCODE data13 in my analyses Feng Yue13 Ross Hardison13 Venkat Malladi

bull Analyzing ChIP-shy‐seq data13 Alon Goren Anshul Kundaje bull Basic introducRon to accessing ENCODERoadmap Epigenomics

data13 Anshul Kundaje Jiang Zhu Eurie Hong ENCODEEpigenomics Roadmap Workshop ASHG 2013

Page 15: ENCODE and Epigenomics Roadmap Workshop

Speakers

GeneLcs and Genomics of Maternal Glycemia During13 Pregnancy13 New Insights13 from13 Genome Wide Mapping and ENCODEWilliam L Lowe Jr MDProfessor of Medicine and Vice Dean for Academic AffairsNorthwestern University

Expression and RegulaLon of Lung FuncLon Genome-shy‐Wide Associated LocusMaen Obeidat13 PhDPost-shy‐doctoral fellow (PI Peter Pare PhD)University of BriRsh Columbia13

Using the Epigenome Roadmap data to analyze geneLc studies of type 2 diabetesVineeta Agarwala (PhD student PI David Altshuler MD PhD Broad InsRtute)Abhishek Sarkar (PhD student PI Manolis Kellis PhD Broad InsRtute)Kyle13 Gaulton (Post-shy‐doctoral fellow PI Mark McCarthy Peter Donnelly Wellcome Trust13 Centre for Human GeneRcs)

ENCODEEpigenomics Roadmap Workshop ASHG 2013

  

Tutorial bull How can ENCODE data13 help with analysis of SNP data13 from

GWAS studies Jill Moore Luke Ward Robert13 Klein bull How can ENCODE data13 help with annotaRon of non-shy‐coding

variants Jill Moore Ekta Khurana Robert13 Klein bull How can ENCODE data13 help idenRfy how my gene of interest13 is

regulated Alon Goren Brian Lee Adam Frankish (single gene level analysis) Ross Hardison

bull What13 can ENCODE data13 tell me about13 my genes expression levels13 Brian Lee Eurie Hong Adam Frankish (single gene level analysis)

bull How can I use mouse ENCODE data13 in my analyses Feng Yue13 Ross Hardison13 Venkat Malladi

bull Analyzing ChIP-shy‐seq data13 Alon Goren Anshul Kundaje bull Basic introducRon to accessing ENCODERoadmap Epigenomics

data13 Anshul Kundaje Jiang Zhu Eurie Hong ENCODEEpigenomics Roadmap Workshop ASHG 2013

Page 16: ENCODE and Epigenomics Roadmap Workshop

  

Tutorial bull How can ENCODE data13 help with analysis of SNP data13 from

GWAS studies Jill Moore Luke Ward Robert13 Klein bull How can ENCODE data13 help with annotaRon of non-shy‐coding

variants Jill Moore Ekta Khurana Robert13 Klein bull How can ENCODE data13 help idenRfy how my gene of interest13 is

regulated Alon Goren Brian Lee Adam Frankish (single gene level analysis) Ross Hardison

bull What13 can ENCODE data13 tell me about13 my genes expression levels13 Brian Lee Eurie Hong Adam Frankish (single gene level analysis)

bull How can I use mouse ENCODE data13 in my analyses Feng Yue13 Ross Hardison13 Venkat Malladi

bull Analyzing ChIP-shy‐seq data13 Alon Goren Anshul Kundaje bull Basic introducRon to accessing ENCODERoadmap Epigenomics

data13 Anshul Kundaje Jiang Zhu Eurie Hong ENCODEEpigenomics Roadmap Workshop ASHG 2013