ENCODE: Getting Started - Genome.gov€¦ · ENCODE Project: The goals of the NHGRI ENCODE project...
Transcript of ENCODE: Getting Started - Genome.gov€¦ · ENCODE Project: The goals of the NHGRI ENCODE project...
ENCODE:GettingStartedhttps://www.encodeproject.org; https://www.genome.gov/encode/
Updated11October2016,MikePazin;https://www.genome.gov/pages/research/ENCODE/Tutorials/ENCODE_Getting_Started_2016.pdf 1
ENCODEProject:ThegoalsoftheNHGRIENCODEprojectaretoidentifyallcandidatefunctionalelementsinthegenome,andtomakeacatalogofthoseelementsfreelyavailable
ENCODEPortal(https://encodeproject.org)TheENCODEportalhasdatafromover5000humanand1500mouseENCODEexperiments,aswellasresourcesfromotherprojectssuchastheNIHCommonFundEpigenomicsProgram.Searchescanberefinedthroughfacets,anddatacanbedownloadedordisplayedthroughgenomebrowsers.ENCODEmetadataisalsoavailableprogrammaticallyviawebservices.
ENCODEEncyclopedia(https://www.encodeproject.org/data/annotations/)TheENCODEEncyclopediaorganizesthemostsalientanalysisproductsintoannotations,andprovidestoolstosearchandvisualizethem.Groundlevelannotations,suchasthehuman/mousegeneexpressionvisualizershownbelowleft,aretypicallyderiveddirectlyfromtheexperimentaldata.Middlelevelannotations,suchasthehuman/mouseenhancervisualizershownbelowright,integratemultipletypesofexperimentaldataandmultiplegroundlevelannotations.Toplevelannotations,suchasthetoolsRegulomeDB,HaploReg,andFunSeqshownonthenextpage,integrateabroadrangeofexperimentaldataandgroundandmiddlelevelannotations.
ENCODE:GettingStarted(Page2)https://www.encodeproject.org; https://www.genome.gov/encode/
Updated11October2016,MikePazin;https://www.genome.gov/pages/research/ENCODE/Tutorials/ENCODE_Getting_Started_2016.pdf 2
RegulomeDB(http://www.regulomedb.org)IdentifiesDNAfeaturesandregulatoryelementsinnon-codingregionsofthehumangenome.UsesdatafromENCODE,RoadmapEpigenomics,GTEx,GWAScatalog,andotherprojects.AcceptsSNPIDs,genomiccoordinates,BEDfiles,VCFfiles,GFF3files(hg19)asinput,andreturnsinformationabouttheregulatorypotentialandcellspecificityoftheinputregions.PMID:22955989
HaploReg(http://archive.broadinstitute.org/mammals/haploreg/haploreg.php)Exploresannotationsofthenoncodinggenomeatvariantsonhaplotypeblocks,suchascandidateregulatorySNPsatdisease-associatedloci.UsesdatafromENCODE,RoadmapEpigenomics,GTEx,GWAScatalog,GENCODE,1000Genomes,andotherprojects.AcceptsSNPIDsandgenomiccoordinatesasinput,andreturnsinformationabouttheregulatorypotentialandcellspecificityoftheinputregions.PMID:26657631
FunSeq(http://funseq.gersteinlab.org)Annotatesgermlineandsomaticvariants,particularlyinthenoncodingregionsofcancergenomes.UsesdatafromENCODE,RoadmapEpigenomics,GENCODE,and1000Genomes,integratingalltheevidenceintoasingleimpactscoreforavariant.AcceptsBEDorVCFfilesasinput.PMID:25273974