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The Global Network For Genomic Medicine TM ® COMPANY OVERVIEW Pistoia Alliance US Conference 2015

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Org Admin Overview

Company overviewPistoia Alliance US Conference 2015

The Global Network For Genomic MedicineTM

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CONFIDENTIAL 2015

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FastQCommunityNGS-Based Test Developers (large and small), NIST, FDA Scientists, Standards Bodies, Academic Centers, Patient-Facing Providers, ConsortiumsAnalysis and Pipeline(s)Security and Privacy HIPAA/HITECH, CAP, ISO27001Uniquely identified and immutable dataVersion-controlled applicationsReference DataVariant Call Comparator

Diagram Provided Courtesy of the FDA Chief Health Informatics OfficerResults

Building on the success we had with the community with the openFDA model, here I demonstrate to you our _ vision of the informatics platform and associated software to support regulatory submissions / I refer to here as precisionFDA, in the same spirit as openFDA /

We envision a public cloud-based portal with access to data and informatics packages using APIs. The platform will allow us to Create a community around open source code, reference data, and NGS-based tests pipelinesOffer processing resources for development, testing, execution, and sharing of genomic analysis pipelines and dataProvide auditable security and governance controls to address compliance and to protect data and intellectual property exchanged

Operating at Scale & Supporting Collaboration 4Baylor College of Medicine / CHARGE

Largest cloud-based genomic analysis project ever performedx

14,691INDIVIDUALGENOMESx

430TBANALYTIC DATAx

3.3MCORE-HOURSx

20,800CORES AT PEAKDEMANDx

300+RESEARCHERSOver the course of 10 days.

TransparencyReproducibilityData provenanceENCODE DCC at Stanford University

Unified platform to process 1000s of datasets & sharing with 1000s of researchers

CONFIDENTIAL 2015