`To:
`Subject:
`Date:
`Attachments:
`
`Richard Chen
`John West; Carol Tillis; Christian Haudenschild; Eliane Sousa
`Final Board Slides
`Tuesday, July 17, 2012 5:05:11 PM
`board.07.18.12.v6.roc.ppt
`
`Includes change suggested by John. Ready for print.
`
`-Rich
`
`Personalis EX2070
`
`
`
`Research and Development
`
`Personalis, Inc.
`07.18.2012
`
`Richard Chen, CSO
`
`7/18/12
`
`Personalis, Inc. Proprietary and Confidential
`
`1
`
`Personalis EX2070
`
`
`
`R&D Overview
`
`• Hires
`• Product Development
`– Genome Pipeline Service
`– Disease Variant Discovery Service
`– Genome Interpretation Service
`• Content Development
`• Research Collaborations
`• Computing Infrastructure
`
`7/18/12
`
`Personalis, Inc. Proprietary and Confidential
`
`2
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`Personalis EX2070
`
`
`
`R&D Hiring Update
`
`•
`•
`
`•
`
`Slower hiring ramp than plan, looking for great hires
`New R&D Hires
`• Daniel Newburger (Pipeline R&D, started mid-June)
`•
`Shujun Luo (Accuracy R&D, started mid-June)
`Near Term Open Positions
`•
`Linux systems admin – hired new recruiter, looking for consulting help
`• Test/Build Engineer
`• Applications Engineer
`• BI Pipeline Engineer
`
`Pipeline Mgr
`(Hugo Lam)
`
`BI Pipeline
`Engineer
`(Dan
`Newburger)
`
`BI Pipeline
`Engineer
`
`Build/Test
`Engineer
`
`BI Analyst
`(Gabor
`Bartha)
`
`R&D
`
`BI Apps &
`Research
`Mgr
`(Rong Chen)
`
`Mol Bio/Lab
`(Shujun Luo)
`
`BI App
`Scientist
`(Michael
`Clark)
`
`BI App
`Engineer
`
`Director
`Accuracy
`R&D
`(Mark Pratt)
`
`BI Tools
`(Jason
`Harris)
`
`Original Team
`
`New hires (started)
`
`New hires (not yet started)
`
`Near Term Open Positions
`
`Scientific
`Content &
`Curation
`Mgr
`
`Sr Project
`Mgr
`(Scott Kirk)
`
`Linux
`Systems
`Admin
`
`Genomics
`Counselor
`(G.
`Chandratilla
`ke)
`
`Genomics
`Counselor
`(Sarah
`Garcia)
`
`5 Part Time
`Curation
`Scientists
`
`7/18/12
`
`Personalis, Inc. Proprietary and Confidential
`
`3
`
`Personalis EX2070
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`
`
`Summary of Resource Allocation
`
`Accuracy R&D
`Mark Pratt
`Gabor Barth
`Jason Harris
`Shujun Luo
`
`Pipeline R&D
`Hugo Lam
`Daniel Newburger
`
`Apps R&D
`Rong Chen
`Michael Clark
`
`Content R&D
`Sarah Garcia
`Gemma Chandratillake
`PT Curators
`
`Pipeline Service
`
`Disease Variant
`Discovery
`Service
`Genome
`Interpretation
`Service
`
`Research
`Collaborations
`Ethics Board
`
`7/18/12
`
`Personalis, Inc. Proprietary and Confidential
`
`4
`
`Personalis EX2070
`
`
`
`R&D Roadmap
`
`•Current dev focus
`is on Genome
`Pipeline Service.
`
`•Specing out and
`planning for DVDS
`and GIS.
`
`•As resources
`allow, starting dev
`on long lead items
`for DVDS and GIS
`
`Genome Interpretation Service (GIS)
`
`What are the disease risks?
`Which drugs should be avoided
`or dosed differently?
`
`Disease Variant Discovery Service (DVDS)
`
`What is the causative
`Genetic Variant?
`
`Genome Pipeline Service (PS)
`
`Sample Collection &
`DNA Extraction
`
`TTAGC…
`Whole
`Genome/Exome
`Sequence
`
`Alignment and
`Variant Calling
`
`Genes
`
`Pathways &
`Networks
`Diseases
`
`Drugs
`
`Clinical
`Research
`(IRB)
`Growing clinical
`opportunity
`
`Discovery
`Research
`
`7/18/12
`
`Personalis, Inc. Proprietary and Confidential
`
`5
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`Personalis EX2070
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`
`
`Summary of Estimated Timelines
`
`Mar
`
`Apr
`
`May
`
`Jun
`
`Jul
`
`Aug
`
`Sept
`
`Oct
`
`Nov
`
`Dec
`
`Jan
`
`Feb
`
`Genome Pipeline
`Service
`
`Spec & Resource
`
`Prototype Development
`
`Disease Variant
`Discovery Service
`
`Feasibility Assess
`
`Spec & Resource
`
`Genome
`Interpretation Service
`
`Feasibility Assess
`
`Spec & Resource
`
`Prototype Testing
`w/ Collaborator
`v1 Development
`
`v1 Testing
`
`v1 Launch
`
`Prototype Development
`
`Prototype Testing w/ Collaborator
`
`v1 Dev
`
`Prototype Development
`
`Prototype Testing w/ Collaborator
`
`7/18/12
`
`Personalis, Inc. Proprietary and Confidential
`
`6
`
`Personalis EX2070
`
`
`
`Update: Genome Pipeline Service
`• R&D team focus on development of the prototype Pipeline Service
`• Successful move to new location with minimal impact to R&D
`• Key development milestones
`• HugeSeq pipeline component updates
`• Ethnicity specific genomes used for alignment
`• Variant annotation engine completed
`• Case/control analysis methodology for key use cases developed
`•
`First prototype output reports being generated
`• Remain on track for testing prototype with collaborators in Aug 2012
`• Risks/Challenges
`• Hiring – working aggressively with recruiter for scientific computing and BI hires, further delay in
`hires could affect schedule
`• Computing infrastructure – rackspace contraints relieved with move to new building, looking to
`install scalable storage solutions for R&D, additional computing capacity installed
`Licensing of 3rd party tools and content
`Identifying friendly research collaborators to work with in August
`
`•
`•
`
`7/18/12
`
`Personalis, Inc. Proprietary and Confidential
`
`7
`
`Personalis EX2070
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`
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`Update: DVDS and GIS
`
`•
`
`Success of Pipeline and Accuracy efforts are critical for these products
`
`• Resources focused on pipeline development, but working concurrently
`with SAB/Founder working groups on defining and spec’ing components
`of DVDS and GIS
`• Key software modules for DVDS already being developed through SAB consulting arrangement
`• GIS Complex disease report, Mendelian disease report, and PGx specs being developed by
`working groups
`
`Founder/SAB Lead
`Working Group
`Mike, Carlos
`Pipeline
`Mike, Carlos
`Accuracy
`Atul
`GIS: Complex Dz
`Euan/Rick
`GIS: Mendelian Dz
`GIS: Pharmacogenomics Russ
`DVDS
`Euan/Rick
`
`Personalis Lead
`Hugo, Scott
`John, Mark
`Rong/Sarah/Gemma
`Sarah/Gemma
`Rich
`Michael
`
`7/18/12
`
`Personalis, Inc. Proprietary and Confidential
`
`8
`
`Personalis EX2070
`
`
`
`MendelDB Dashboard
`
`•
`
`•
`
`•
`
`High quality curated DB of Mendelian
`phenotypes and their variants
`– Managed by Sarah Garcia and Gemma
`Chandratillake, both Genetics Ph.D. & Genetic
`Counselors
`
`Critical content to support Disease Variant
`Discovery Service and Genome Interpretation
`Service
`
`On track to finish all (~560) GeneReviews by Aug
`2012, corresponding to >200 common
`Mendelian disease phenotypes
`
`• Will then continue phenotype curation and
`variant curation from other sources
`
`•
`
`Flexible workforce for other curation tasks in the
`future
`
`# phenotypes
`
`# genes (blue)
`# variants (red)
`
`productivity
`(rows/hr)
`
`Raw error rate
`(# errors/row)
`(prior to QC)
`
`7/18/12
`
`Personalis, Inc. Proprietary and Confidential
`
`9
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`Personalis EX2070
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`
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`VarimedDB Dashboard
`
`7/18/12
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`Personalis, Inc. Proprietary and Confidential
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`10
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`Personalis EX2070
`
`
`
`Scientific Computing Infrastructure
`
`•
`•
`
`Increased our genome processing capability to 240 cores
`Looking to add ~120TB usable storage for R&D
`– Fielded NAS options from NetApp, Hitachi, Isilon, Dell
`– Most competitive offers from Hitachi and NetApp
`• Met with Amazon, Clikr regarding cloud options (referred from MDV)
`•
`Increasing speed of internal network to 10G
`•
`Server backup planning initiated
`• Continuing search for Linus/Unix sys admin
`
`7/18/12
`
`Personalis, Inc. Proprietary and Confidential
`
`11
`
`Personalis EX2070
`
`
`
`Overall R&D Risks and Mitigation
`
`Risk
`• R&D hiring delay of BI engineers and Unix sys admin.
`May impact schedule
`
`• Long lead time content curation and content quality
`items for GIS and DVDS
`• Licensing of applications and content for analysis
`
`• Ethical use of Genomes for R&D
`
`• Product Differentiation
`
`• Identifying high quality collaborators for testing our
`services. Potentially long lead time.
`
`Mitigation
`• New IT recruiters now involved for Unix sys admin
`hire
`• Redoubled efforts on BI hires (new process,
`conferences, networking)
`• Started dev on those items with long lead times to
`develop concurrently with Pipeline (MendelDB, etc)
`• Systematically reviewing and applying for licenses
`for key content and algorithms
`• Ethics board approval for all Genomes used for R&D
`• Part of orientation training
`• Continuing to push differentiation in three key
`areas: Accuracy/Quality, Content, Features
`• Begin to identify collaborators for each of the
`services to get IRB/ethical legal framework in place
`
`7/18/12
`
`Personalis, Inc. Proprietary and Confidential
`
`12
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`Personalis EX2070
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`
`
`Next Steps & Priorities
`
`•
`
`•
`
`•
`
`•
`
`•
`
`•
`
`•
`
`Continuing hiring for open positions
`
`Continue focus on Pipeline Service development with Aug 2012 prototype target
`
`Identify friendly collaborators for testing Pipeline Service Prototype
`
`Continue to define specs and plan around Disease Variant Discovery Service and
`Genome Interpretation Service
`
`Expand computing storage capabilities
`
`Continue to execute on content priorities, develop longer term content strategy
`
`Continue to execute on Accuracy objectives and integration with laboratory
`capabilities
`
`7/18/12
`
`Personalis, Inc. Proprietary and Confidential
`
`13
`
`Personalis EX2070
`
`