Rocco D. Lucero1, Sai Lakshmi Subramanian1, Bob Carter2, Fred Hochberg2, William Butler3, Matthew Huentelman4, Kendall Van Keuren-Jensen4, Theresa Lusardi5, Joseph Quinn5, Matthew E. Roth1, Julie A. Saugstad5, Aleksandar Milosavljevic1

1 Baylor College of Medicine, Houston, TX; 2 University of California at San Diego (UCSD), San Diego, CA; 3 Massachusetts General Hospital, Boston, MA; 4 Translational Genomics Research Institute (TGen), Phoenix, AZ; 5 Oregon Health & Science University (OHSU), Portland, OR

© Bioinformatics Research Laboratory, Baylor College of Medicine

FutureDirection: TheEVBwilldevisespecimentrackingrequestpolicies,votingrulesandprioritizationrulesforsamplerequests.TheEVBasamodelforcollaborativeEVstudieswillbeexpandedtohepato-biliarydiseasesandoro-pharyngealfluidsasthenextseriesof‘usecases’.

Acknowledgements: 1. Genboree Dev Team at Baylor: Andrew Jackson, Neethu Shah, Aaron Baker, William

Thistlethwaite, Sameer Paithankar2. Contributors from various institutions: UCSD: Ryan Kim, Johnny Akers, Douglas Galasko;

OHSU: Betty Lind; TGen: Rebecca Reiman, Ashish Yeri; Barrow Neurological Institute: Yashar Kalani, Jorge Arango

3. This research is supported by the Supplement Grant 3U54DA036134-03S1 from the NIH Common Fund, through the Office of Strategic Coordination/Office of the NIH Director.

– Sharedbiofluid andtissuespecimensfortheERCCandresearchcommunity

– ResourceforassessingandvalidatingexRNAbiomarkersfor• Diseasediagnosis,prognosis,stratification,toxicity• Providingnormativeandexperimentalcontrols• Improvingbiomarkersensitivityandspecificity• UnitedCommonIRBsanduMTAs• OptimizedandstringentSOPsandsitequalitycontrol

– OuroperatingphilosophyisbasedupontheCSFconsortiumtemplate

– Mindfuloftheneedtodeterminelong-termfundingmodelandtransition

• Workwithadvocacygroups,commercial,non-profits• GuidedbyAdvisoryBoardofstakeholders

VisionoftheexRNAVirtualBiorepository CSFConsortiumArchitecture Thefirst‘usecase’fortheEVBinvolvestheevaluationofCSFforthediagnosisof:• Primarytumorsofbrain(UCSD);• Subarachnoidhemorrhage(TGen);• Alzheimer’s&Parkinson’sdiseases(OHSU);

• EVprofilesofnormalCSF;EVBalsostoresCSFsamplescollectedroutinelyfrompatientswithvariousneurologicalconditions(BarrowNeurologicalInstitute,BNI).

• The local nodes are configurable so that only a subset ofnon-identifiable data about samples may be sharedoutside of the collection site.

• For ease of installation, the nodes are pre-configuredvirtual machines (VMs) and may reside at participatinginstitutions or may be hosted remotely at commercial orprivate clouds.

• The central EVB hub is a “web service broker” for dataquery, annotation, requesting and tracking samples andgenerating summary reports for samples available acrossthe network of EVB nodes.

• Genboree REST Application Programming Interfaces(APIs) that enable standards-based data sharing acrossphysically distributed nodes are projected to be fullycompliant with W3C JSON-LD and RDF Linked Open Datastandards, thus facilitating data interoperability with EHRand other IT systems.

CentralHubandNodesModel

BuiltontheGenboreeKB framework,EVBoffersadistributedandextensibleinfrastructureidealforthepromotionofcollaborationwithcontrolledinformationsharing.EachinstitutionparticipatingintheEVBpossessesa‘node’withinthesystem.

MetadataCollectionsandModels

Eachnodehasthreelayersofmetadata.• CommonDataElements:capturesdata

acrossallsamplesinthesystem,• Effort-specificDataElements:includes

informationspecifictotheprimaryuseofthesamplesand

• Site-specificDataElements:includesinformationrelatedtotheconditionsbeingstudiedataspecificnode.

TheexRNAvirtualbiorepository(EVB),developedbytheResourceSharingWorkingGroupandtheDataManagementandResourceRepository(DMRR)oftheexRNACommunicationConsortium(ERCC),facilitatestrackingandsharingofbiofluids.ThesharedEVBiskeytodiscoveryandvalidationofbiomarkerswhileprovidingnormativeandexperimentalcontrolsforspecificityassessments.

CSFEVBPortalPageshowing• samplesummaries• resultsfromCSFStudies

CSFEVBPortalBETAwithSummaries,Statistics

CSFEVBDashboardwithBiosampleInventoryInformation

GridViewwithLinktoSeeDetailedReportAboutBiosamples

Clicktoviewadetailedreportviewofthe:• Biosample,• Donorfromwhomthisbiosamplewas

collected,• Studyforwhichthisdonorwasrecruited,• Contactinformationforrequestingsamples