From:
`To:
`Subject:
`Date:
`Attachments:
`
`Richard Chen
`John West; Carol Tillis; Eliane Sousa
`Final Board Slides
`Tuesday, May 8, 2012 10:17:29 AM
`board.05.08.12.v7.roc.pptx
`
`Here are my final board slides ready for print.
`
`-Rich
`
`Personalis EX2042
`
`
`To:
`Subject:
`Date:
`Attachments:
`
`Richard Chen
`John West; Carol Tillis; Eliane Sousa
`Final Board Slides
`Tuesday, May 8, 2012 10:17:29 AM
`board.05.08.12.v7.roc.pptx
`
`Here are my final board slides ready for print.
`
`-Rich
`
`Personalis EX2042
`
`
`
`R&D Update
`
`Personalis, Inc.
`Board Meeting 05.08.2012
`
`Richard Chen, CSO
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`1
`
`Personalis EX2042
`
`
`
`Overview
`
`• Hiring
`• Product Development
`– Genome Pipeline Service
`– Rare Variant Discovery Service
`– Genome Interpretation Service
`• Content Development
`• Research Collaborations
`• Computing Infrastructure
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`2
`
`Personalis EX2042
`
`
`
`R&D Hiring Update
`
`• New R&D Hires
`•
`Scott Kirk (Project Mgmt, started 4-1-12)
`• Michael Clark (Apps R&D, started 4-16-12)
`• Gabor Bartha (Accuracy R&D, started 5-1-12)
`•
`Jason Harris (Accuracy R&D, starting late May)
`• Daniel Newburger (Pipeline R&D, starting mid-
`June)
`
`• Near Term Open Positions
`•
`Scientific Computing Mgr
`•
`Test/Build Engineer
`• Applications Engineer
`
`Pipeline Mgr
`(Hugo Lam)
`
`Director
`Accuracy R&D
`(Mark Pratt)
`
`R&D
`
`Bioinformatics
`Applications &
`Research Mgr
`(Rong Chen)
`
`BI Pipeline
`Engineer
`(Dan
`Newburger)
`
`Build/Test
`Engineer
`
`BI Analyst
`(Gabor Bartha)
`
`BI Tools
`(Jason Harris)
`
`BI Applications
`Scientist
`(Michael Clark)
`
`BI Applications
`Engineer
`
`Original Team
`
`Scientific
`Content &
`Curation Mgr
`
`Sr Project Mgr
`(Scott Kirk)
`
`Scientific
`Computing Mgr
`
`Genomics
`Counselor
`(G.
`Chandratillake)
`
`Genomics
`Counselor
`(Sarah Garcia)
`
`5 Part Time
`Curation
`Scientists
`
`3
`
`Personalis EX2042
`
`
`
`Product Roadmap
`
`•Moving forward on
`all three services.
`
`•Current dev focus
`is on Genome
`Pipeline Service.
`
`•Spec’ing out and
`planning for RVDS
`and GIS.
`
`•As resources
`allow, starting dev
`on long lead items
`for RVDS and GIS
`
`What are the disease risks?
`Which drugs should be avoided
`or dosed differently?
`
`Rare Variant Discovery Service (RVDS)
`
`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
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`4
`
`Personalis EX2042
`
`
`
`Product Roadmap
`
`What are the disease risks?
`Which drugs should be avoided
`or dosed differently?
`
`Rare Variant Discovery Service (RVDS)
`
`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
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`5
`
`Personalis EX2042
`
`
`
`R&D Update: Genome Pipeline Service
`
`•
`
`•
`
`First draft of requirements specification completed but constantly refining
`• Developing Pipeline Service report to be compelling and differentiating
`
`Team currently focused on development of the prototype with the goal of
`testing early with collaborators
`
`• Project plan completed with preliminary delivery date estimates, on track for:
`• Aug 2012: Prototype Product for Testing with Collaborators
`• Nov 2012: Estimated date for v1 Product for Beta Testing
`
`•
`
`The accuracy effort is foundational for the Pipeline service (described by John
`earlier). Research risk may impact v1 schedule.
`
`• Developing “upstream” ops capabilities to handle and process samples and
`different assays (Christian)
`• Need to match lab assay capabilities with downstream analytics
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`6
`
`Personalis EX2042
`
`
`
`Pipeline Service: Primary Target Customer
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`7
`
`Personalis EX2042
`
`
`
`Pipeline Service: Target Use Cases
`
`• Multiple Genomes Analysis
`– Case Control Studies
`– Population Studies
`– Drug trial stratification
`– Groups of families
`– Trios (single or multiple)
`– Larger Pedigree
`– Cancer Studies
`Single Genome Analysis
`
`•
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`8
`
`Personalis EX2042
`
`
`
`Pipeline Service
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`9
`
`Personalis EX2042
`
`
`
`Pipeline Service: Report & Output
`
`Detailed Reports
`
`Biological
`Annotations
`• Enable custom exploration
`and filtering of variants
`based on aggregated
`public DB annotations
`across all variants
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`10
`
`Personalis EX2042
`
`
`
`Pipeline Service: Differentiation
`
`Our Key Differentiators will be Accuracy and Content
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`11
`
`Personalis EX2042
`
`
`
`Pipeline Service: Differentiation
`
`Accuracy
`
`Content
`
`Other Features
`
`• Ability to provide
`insights not just on SNPs
`and indels but also on
`SV’s
`
`• Use of proprietary
`content from Varimed,
`MendelDB, Regulome and
`PharmGKB to filter,
`analyze and prioritize
`most relevant variants in
`both coding and non-
`coding regions to the
`disease, pathway, drug or
`biological process of
`interest
`
`• Annotation with content
`from a large of public
`databases (>15), more
`than available through
`other analysis services
`
`• Integration with best of
`breed visualization tools
`such as UCSC, Broad IGV,
`Illumina Genome Studio,
`Spotfire, Cytoscape
`
`• Use of proprietary
`databases of “medically
`important” variants to
`focus accuracy efforts on
`the most medically
`important regions
`
`• Circos plot and other
`data visualizations for
`summarizing data that
`are “ready for
`publication”
`
`• Critical accuracy/quality
`statistics per variant and
`gene shown on report
`• Higher accuracy in pipeline
`enables FEWER candidate
`variants, and fewer false
`leads
`
`• Quality flags for problematic
`regions associated with each
`variant
`• Enable user determined
`quality thresholds for
`filtering rather than pre-set
`heuristics
`
`• QC metrics that highlight
`differences between
`standard pipeline vs
`Personalis pipeline results:
`• Rescue of variants using
`ethnicity specific references,
`better alignment methods,
`multiple assays
`• Flagging problematic variants
`(even those with high Q
`scores) and fixing them
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`12
`
`Personalis EX2042
`
`
`
`Pipeline Service: Prototype vs Version 1
`
`Prototype
`
`Version 1
`
`Goal
`
`Assump
`
`Inputs
`
`Outputs
`
`Accuracy
`Features
`
`Test early with early friendly collaborators. Do enough product
`development to understand:
`•Overall Value proposition
`•Content/Functionality/Usability/Delivery
`•Rapid feedback for v1 product
`
`• Delivered as Service
`• Basic HugeSeq pipeline
`• Minimal new content/algorithms from where we are today
`• Basic quality controls, eliminate risk points from prototype
`•
`ILMN whole genome < 200bp
`
`Basic report generation/data files as output including:
`•BAM files (alignment) and consensus sequence
`•Basic QC metrics
`•Variant calls with basic functional annotations
`•Ethnicity reference report with comparative analysis
`•Basic functional annotations
`•Biological annotations from public DBs
`• 3 Ethnicity specific reference genomes
`• Flag variants in known problematic genome regions identified
`• Basic SNPs, indels, SV detection
`• Alleles reporting
`• Zygosity of largest indels
`
`Incorporate prototype feedback, generate revenue,
`scale
`•Revenue generation
`•“Whole product”
`
`• More robust, scalable pipeline and service
`• New content and algorithms
`• Stricter quality controls for content and product
`• Hiring dependent
`Multiple Assays including:
`•Combo of ILMN whole genome and exome
`•Exome as sole input
`•CG variants
`Expanded summary and quality reporting including
`•Expanded QC metrics
`•Differentiated visualization/graphs/reporting
`•Additional public DB annotation content
`
`•
`
`•
`•
`•
`
`Improved detection of ethnicity, handle
`admixture
`Improved SV/CNV detection, zygosity detection
`Overlaps between SNPs/Indels and SV’s reported
`Some of known problematic regions fixed
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`13
`
`Personalis EX2042
`
`
`
`Pipeline Service: High Level Milestones
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`14
`
`Personalis EX2042
`
`
`
`Product Roadmap
`
`What are the disease risks?
`Which drugs should be avoided
`or dosed differently?
`
`Rare Variant Discovery Service (RVDS)
`
`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
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`15
`
`Personalis EX2042
`
`
`
`Rare Variant Discovery Service: Update
`
`•
`
`Target customer is clinical researcher that has a family trio or large
`pedigree with a particular phenotype/disease of interest, under IRB
`
`• Our service will take tissue samples or sequence as input and provide back
`a prioritized list of candidate variants that may be associated with the
`phenotype/disease of interest
`
`• Completed first draft of functional spec and sample report, now in project
`planning and resourcing phase
`– Collaborated heavily with SAB (Dr. Rick Dewey and Dr. Euan Ashley) who are experts in
`this area to develop concept
`
`• Overlapping resources with Pipeline Service development.
`– Early estimate for prototype is Dec 2012 timeframe
`– Already developing required content (MendelDB)
`
`•
`
`Some reports/tools developed for Pipeline Service will be reusable
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`16
`
`Personalis EX2042
`
`
`
`RVDS: Target Customer
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`17
`
`Personalis EX2042
`
`
`
`RVDS: Target Use Cases
`
`• Multiple Genomes Analysis
`– Case Control Studies
`– Population Studies
`– Drug trial stratification
`– Groups of families
`– Trios (single or multiple)
`– Larger Pedigree
`– Cancer Studies
`Single Genome Analysis
`
`•
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`18
`
`Personalis EX2042
`
`
`
`RVDS Prototype Report
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`19
`
`Personalis EX2042
`
`
`
`RVDS: High Level Milestones
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`20
`
`Personalis EX2042
`
`
`
`Product Roadmap
`
`What are the disease risks?
`Which drugs should be avoided
`or dosed differently?
`
`Rare Variant Discovery Service (RVDS)
`
`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
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`21
`
`Personalis EX2042
`
`
`
`GIS: Target Customer
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`22
`
`Personalis EX2042
`
`
`
`GIS: Target Use Cases
`
`• Multiple Genomes Analysis
`– Case Control Studies
`– Population Studies
`– Drug trial stratification
`– Groups of families
`– Trios (single or multiple)
`– Larger Pedigree
`– Cancer Studies
`Single Genome Analysis
`
`•
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`23
`
`Personalis EX2042
`
`
`
`Genome Interpretation Service
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`24
`
`Personalis EX2042
`
`
`
`Genome Interpretation Service
`
`• Now creating functional specification and project plan
`– Very Preliminary estimates for prototype: Dec 2012-Mar 2013
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`25
`
`Personalis EX2042
`
`
`
`Product Dev: Summary of Estimated Timelines
`
`Mar
`
`Apr
`
`Aug
`
`Sept
`
`Oct
`
`Nov
`
`Dec
`
`Jan
`
`Feb
`
`Genome Pipeline
`Service
`
`Spec & Resource
`
`Prototype Development
`
`Rare 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
`
`Prototype Development
`
`Prototype Testing w/ Collaborator
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`26
`
`Personalis EX2042
`
`
`
`Product Dev: Summary of Resource Allocation
`
`Accuracy R&D
`Mark Pratt
`Gabor Barth
`Jason Harris (Start 5/27)
`
`Pipeline R&D
`Hugo Lam
`Daniel Newburger (Start 7/15)
`
`Apps R&D
`Rong Chen
`Michael Clark
`
`Content R&D
`Sarah Garcia
`Gemma Chandratillake
`PT Curators
`
`Pipeline Service
`
`Rare Variant
`Discovery
`Service
`Genome
`Interpretation
`Service
`
`Research
`Collaborations
`Ethics Board
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`27
`
`Personalis EX2042
`
`
`
`Content Development
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`28
`
`Personalis EX2042
`
`
`
`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 Rare Variant Discovery
`Service and Genome Interpretation Service
`Ontological structure
`PT curation scientist workforce
`–
`5 hired, top 20% of applicants tested
`– Majority work 8-15 hrs/week
`–
`Trained on protocol and real data for 2 weeks
`– Have been curating GeneReviews for 2 months
`PT curators receive weekly feedback on errors
`made, productivity
`–
`Also get feedback on average for the entire group
`–
`Rapid improvement
`Stringent QC process involving double curation
`and final QC check
`Expect 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
`
`•
`
`Raw error rate
`(# errors/row)
`(prior to QC)
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`29
`
`Personalis EX2042
`
`
`
`Mendel DB Curation Process
`
`Training
`
`Curators are given one
`completed example
`phenotype and the curation
`SOP (including controlled
`language fields where
`applicable, and preferred
`entry format)
`
`Curator completes an
`assigned simple phenotype in
`the curation spreadsheet
`using the SOP
`
`Personalis GC reviews the
`training phenotype, provides
`feedback, and assigns four
`more complicated
`phenotypes for curation
`training
`
`Personalis GC reviews four
`phenotypes, provides
`feedback, and releases the
`curator to primary curation
`(if appropriate)
`
`Curation
`
`Personalis GC skims
`GeneReviews article, creates
`a phenotype ontology, and
`deposits it into the curator
`phenotype sign-out sheet
`(shared as a Google Doc)
`
`Curators sign out phenotypes
`prioritizing being the second
`curator to curate a
`phenotype
`
`Curators read the assigned
`GeneReviews article, curate
`phenotype information
`according to SOP, and record
`all variants mentioned. Any
`difficulties/questions are
`directed to Personalis GCs
`
`At the end of the week
`curators send all completed
`phenotypes to the Personalis
`GCs along with a time sheet
`and description of curation
`activities
`
`Tracking &
`QC
`
`Personalis GC records and
`calculates curation statistics
`weekly. Stats sent to
`curators.
`
`Personalis GC deposits
`doubly curated phenotypes
`into QC tracking documents
`that auto-flag inter-curator
`discrepancies
`
`Personalis GC signs out
`phenotype for QC, resolves
`all discrepancies and deposits
`phenotypes and variants into
`final database (not available
`to curators)
`
`QC tracking documents are e-
`mailed to each curator with
`final entries, flagged errors
`and feedback (if necessary).
`SOP is modified as necessary
`& redistributed.
`
`Personalis EX2042
`
`
`
`VarimedDB Dashboard
`• Varimed is a DB of
`variant to disease
`relationships
`
`• Curated by Optra
`workforce in India
`
`• Future Issues
`– Continued
`process/quality review
`– Assess key “missing
`content” needs
`– Assess cost/benefit of
`incremental content
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`31
`
`Personalis EX2042
`
`
`
`RegulomeDB
`
`•
`Licensed from Stanford
`• A database of known and predicted regulatory elements
`• Manually curated regions that have been experimentally characterized in regulation
`• Transcriptional factor binding sites from CHIP-seq across a diverse set of cell types
`• DNA hypersensitivity site from Dnase-seq across over 100 cell types
`
`Score
`
`Supporting data
`
`1a
`1b
`1c
`1d
`1e
`1f
`2a
`
`2b
`2c
`3a
`3b
`
`eQTL + TF binding + matched TF motif + matched DNase Footprint + DNase peak
`eQTL + TF binding + any motif + DNase Footprint + DNase peak
`eQTL + TF binding + matched TF motif + DNase peak
`eQTL + TF binding + any motif + DNase peak
`eQTL + TF binding + matched TF motif
`eQTL + TF binding / DNase peak
`TF binding + matched TF motif + matched DNase Footprint + DNase peak
`
`TF binding + any motif + DNase Footprint + DNase peak
`TF binding + matched TF motif + DNase peak
`TF binding + any motif + DNase peak
`TF binding + matched TF motif
`
`# SNPs
`
`352
`2,566
`85
`85
`54
`34,694
`36,841
`
`353,726
`16,640
`302,597
`14,949
`
`Regulome takes a list of variants and assign a score to each variant.
`1a-1f: highly likely to be involved in regulation, 39,433 SNPs
`2a-2c: likely to be involved in regulation, 407,797 SNPs
`
`Personalis EX2042
`
`
`
`Supercentenarian Collaboration
`
`• Research Collaboration with
`• Dr. Stuart Kim, Stanford Prof of Genetics
`• Also involved are Lee Hood from ISB and L. Stephen from Gerontology Research Group
`• Goal: To uncover genetic factors that permit extreme longevity
`• Do supercentenarians have fewer overall risk alleles for common diseases that help them
`avoid disease?
`• Do supercentenarians have protective alleles that allow them to avoid aging/disease?
`• Do supercentenarians have CNVs that provide protection against or promote aging/disease?
`• Details:
`• >=110 yrs old, 71 such people in the world, most female
`• ~17 supercentenarians (>=110 years old) have been sequenced (CG)
`• Analyzing variants using our content/algorithms
`• Completed IRB approval for Personalis involvement in project
`• Finalizing collaboration agreement with Stanford
`• Benefits:
`• Potentially high profile, impact publication
`• Will showcase the power of our content from Varimed
`• Research experience with genomes from extremely healthy, long lived people
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`33
`
`Personalis EX2042
`
`
`
`1000 Genomes Collaboration
`
`•
`
`•
`
`•
`
`•
`
`•
`
`•
`
`Objective:
`–
`Enable rapid generation of new high-confidence SVs, work with leaders in the area
`Summary:
`–
`Try to identify SVs that are most likely true positives by evaluating their genotypes, i.e. assessing Hardy-Weinberg
`Equilibrium (e.g., Hardy-Weinberg p-value) or other metrics based on population genotyping.
`Method:
`–
`Perform post-processing on BreakSeq calls made in several individuals in a population
`–
`Search for SVs that tend to yield clearcut genotypes (based on assessing reference and alternate alleles for BreakSeq
`across the analyzed individuals.
`Validation:
`–
`The quality of the new SV set could be assessed using existing validation data from the 1000 Genomes Project (e.g., aCGH
`and SAV, as approaches for assessing FDRs with these are already in place) or
`–
`By generating additional PCR validations.
`Benefits:
`–
`Latest junction library from the 1KG
`–
`Expert advice on the methodology
`–
`Improvement of BreakSeq
`–
`High-quality SV call set for filtering for accuracy
`–
`Begin to build an SV frequency database, which could also be used for disease association
`Current Status:
`–
`Finished running BreakSeq on 991 1KG genomes based on a deletion junction library with 2 different stringency levels.
`
`Personalis EX2042
`
`
`
`Scientific Computing Infrastructure
`
`•
`
`Looking for a scientific computing manager
`• Hands-on experience with HPC, Big data, Cloud computing, Data security
`
`• Continuing to anticipate our 3-6 month computing needs
`• R&D needs are priority currently, ops needs will become more prominent later
`
`•
`
`• New hardware geared at:
`•
`Increasing our genome processing capability
`– Dell R910 servers x 2 = ~Four 30x genomes processed/day if fully utilized
`Increasing our overall storage to enable development work, download of numerous
`genomes for development and testing work requires more storage
`– DAS: Dell MD3200 x2, MD1200 x 4 in RAID 5 and RAID 10 = 112 TB storage
`– NAS: Dell NX3100 = 22 TB Storage
`• Hosting key development software
`– Dell R210 for hosting JIRA, GIT, TWIKI, NIS
`
`• Other items
`• Server backup planning
`• Move to new location
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`35
`
`Personalis EX2042
`
`
`
`Scientific Computing Infrastructure
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`36
`
`Personalis EX2042
`
`
`
`Pipeline Performance & Capacity
`
`All Stages
`
`Sequential
`Parallel
`Improvement
`
`Genomes
`1
`3
`-
`
`Coverage (X)
`49
`161
`-
`
`Real Time (sec)
`99,385
`200,520
`-
`
`Performance (sec/X)
`2,027
`1,246
`1.63
`
`Running in Parallel:
`
`30X Coverage (hrs)
`
`Genomes/node/day
`2-node capacity
`
`Average
`
`10.38
`
`2.31
`4.62
`
`Personalis EX2042
`
`
`
`Key R&D Risks and Mitigation
`
`Risk
`
`Mitigation
`
`• Hiring great people takes time. If not hired on schedule, may
`impact schedule
`• Numerous development tasks are still research in nature
`making timeline more difficult to estimate
`
`• Long lead time content curation and content quality items for
`GIS and RVDS
`• Complexity of development on multiple products fronts with
`small development team
`
`• Licensing of applications and content for analysis
`
`• Ethical use of Genomes for R&D
`
`• Product Differentiation
`
`• Scalability of products and services
`
`• Identifying high quality collaborators for testing our services.
`Potentially long lead time.
`
`• Recruiters now involved
`• Web site careers posting
`• Continue rapid prototyping to resolve, get visibility on some
`key technical risks to plan appropriately, especially with
`Accuracy effort, GIS product and report generation
`• Already started on those items with long lead times to
`develop concurrently with Pipeline (MendelDB, etc)
`• Hiring
`• Basic Project Mgmt infrastructure being deployed including
`JIRA, GIT, TWIKI, etc to enhance efficiency
`• Created process for systematic review and acquisition of
`licenses. Prioritized most important ones (over 50 on the
`list!)
`• 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
`• Approach is to prioritizing resources towards demonstrating
`value with our services, then scaling once that is
`demonstrated
`• Begin to identify collaborators for each of the services to get
`IRB ethical legal framework in place
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`38
`
`Personalis EX2042
`
`
`
`Summary of R&D Next Steps & Priorities
`
`• Continuing hiring for open positions
`
`• Continue development on Pipeline Service with Aug 2012 prototype target
`
`• Begin to identify friendly collaborators for testing Pipeline Service Prototype
`
`•
`
`Further refine specs and project plan around Rare Variant Discovery Service
`
`• Develop functional specification and detailed project plan for Genome
`Interpretation Service
`
`• Continue to execute on content priorities
`
`• Continue to execute on Accuracy objectives and integration with laboratory
`capabilities
`
`2/7/12
`
`Personalis, Inc. Proprietary and Confidential
`
`39
`
`Personalis EX2042
`
`
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