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A Conversation with PHUSE,
Stardog, and FDA DRSI
Knowledge Graphs: Changing
How We Think About Data.
Presenters
Tim Williams
• Knowledge Graph Project Lead, PHUSE
• Lead Statistical Solutions Analyst, UCB Biosciences
Laura Firey
• Product Manager, Stardog
2
• Knowledge Graphs [ ~20 min]
• Cross Industry Perspective [~10min]
• Open Discussion [~30min]
Outline
Most important: “A Conversation...”
3
PHUSE Linked Data Projects
• CDISC Foundational Standards in RDF
• CDISC Conformance Checks
• Reusing Medical Summaries for Enabling Clinical Research
• Regulatory Guidance in RDF
• Clinical Program Design in RDF
• CDISC Protocol Representation Model in RDF
• Analysis Results & Metadata
• RDF Data Cubes for clinical trial results
• Clinical Trials Data as RDF
• Study Data Tabulation Model as Linked Data
• Going Translational with Linked Data
• Study Data Validation and Submission Conformance
• Pre-clinical data + submission metadata
4
PHUSE Linked Data Workshop
5
Thinking About Data
6
Knowledge Graph Data-Centric Model
• Use-case neutral
• Real-world processes,
entities, relationships
Person 1
Hookah
Person 2
• Knowledge Graph as Resource
Description Framework (RDF)
e-Cigarette
smokes
e-Cigarette
smokes smokes smokes
The whiteboard model you draw is the data.
7
• Shared Definitions and Understanding
– What is a Tobacco Product?
– Who is a Tobacco User?
• Coding of
– Medical Conditions
– Adverse Events
– Products, Manufacturers
• Data Classification, Rules, Validation..
• Ontology Driven/Supported
Knowledge Graphs Facilitate Standards
8
• Dictionary
– terms and their definitions
• Taxonomy
– class hierarchy
• Thesaurus
– relationships between terms
Ontology-based Knowledge Graph Standards
• Rules and Restrictions
– Group membership, exclusions, types
– Employ reasoner, infer values, relations
A Data Engineer’s Guide to Semantic Modelling
Ilaria Maresi (June 2020)
http://blog.thehyve.nl/news/ebook-semantic-model
What is an Ontology?
9
Standards: Identifier Examples
1,2,3-TrihydroxypropaneGlycerolGlycerin
http://dbpedia.org/page/GlycerolGlycerin
• Common terminology • Link to other Knowledge Graphs
• Manufacturers• Devices
• Products • Ingredients
RDF
• Uniform Resource Identifier (URI)
• Internationalized Resource Identifier (IRI)
10
• What ingredient may have
contributed to Pam having
COPD while Ray does not?
Knowledge Graph: Easy Answers to Complex Questions
COPD
11
Ray_GillettePam_Poovey
COPD
Hookah smokes
smokes
smokes
smokes
e-Cigarette e-Cigarette
:man_v241kz
Hookah_Me_Up!
Tobacco
:ing_a6766s
Dried_Mint
:ing_2we3q4
Honey Glycerin
:ing_xr7234:ing_3j6g2i
manufacturer:pro_81fq21
contains
ingredient
Mint_Shisha
Mint_Flavor
:ing_hjk66g
Nicotine
:ing_q77e3u:man_5ez82i
e-CignatureMango_Flavor
:ing_4fg421
Nicotine
:ing_q77e3u
contains contains
: pro_0wq01h:pro_a60e2b
ingredientingredient manufacturer
Mango_Flavor_Pod Mint_Flavor_Pod
:dev_zr10q2
:dev_u18lsd :dev_aq174h
:per_452h78:per_xp52kl
sex
age
wt
sex
age
wt
12
Exposure Data View the interactive
visualization at:
https://bit.ly/PamAndRay
Data error
Person
Demographics
Entity Type
Device
Ingredients
Product
Manufacturer
13
This seems complicated!
“People think RDF is a pain because it
is complicated. The truth is even
worse. RDF is painfully simplistic, but
it allows you to work with real-world
data and problems that are horribly
complicated.”
- attributed to Dan Brickley and Libby Miller
14
Data
https://bit.ly/PamAndRayTTL
View the data file at:
15
Pam’s Unique Exposure Ingredient?
PamUniqueIngred.rq
16
• Who is a TobaccoUser ?
Ontology Revisited
• uses
• smokes
• consumes
• chews ...
User Tobacco
• What is a TobaccoProduct?
Tobacco
Hookah
Cigar
e-Cigarette
Cigarette
contains
contains
contains
? ?
Mint_Shisha
Corojo
Virginia
Mango_Flavor_Pod
contains
ingredient
ingredient
ingredient
ingredient
contains ingredient
:Person
:Device
:Device :Product :Ingredient
:Product
:Ingredient
17
Ray_Gillette
:per_452h78
Pam_Poovey
:per_xp52kl
:dev_zr10q2
:man_v241kz
:dev_u18lsd
Hookah_Me_Up!
:dev_aq174h
Hookah
Tobacco
:ing_a6766s
Dried_Mint
:ing_2we3q4
Honey Glycerin
:ing_xr7234:ing_3j6g2i
smokes
contains contains
manufacturer
: pro_0wq01h:pro_a60e2b
smokes
smokes
smokes
:pro_81fq21
contains
e-Cigarette e-Cigarette
Mint_Shisha
Mango_Flavor_Pod Mint_Flavor_Pod
sex
age
wt
sex
age
wt
ingredient
Tobacco Smoker: The path between Person and Ingredient
:Ingredient
:Product
:Device:Person :Person
18
Query: Tobacco Users
TobaccoUsers.rq
19
Tobacco Smoker: Ontology Definition & Query
TobaccoSmoker-Infer.rq
20
Data Validation
Validating Ray’s Demographics data
21
SHApes Constraint Language (SHACL)
“Person Shape”
(Validation Constraints) Person Data
Data Has Shape. Validation has Shape.
22
SEX AGE
M
SHACL
Person Shape
WEIGHT
Demographics
sex: M
age: 43
wt: 165
Validating Ray’s Demographics
Ray Gillette
Data Entry
M/F/U
165
403
> 0
< 800
> 0
< 120
Violation!
23
Validating Age with SHACL
https://bit.ly/RayDemogAndSHACL
View the interactive
visualization at:
Instance Data SHACL Shape
24
Demographics, Constraints, Report
https://bit.ly/RaySHACLResult
View the interactive
visualization at:
Instance Data
SHACL Shape
Validation Result
25
Metadata is Part of the Graph
Ray_Gillette
M
165
sex
age
wt
2020-08-01
Duke U. Clinic
Dr. A. Krieger
enteredBy
site
entryDate
:per_g367k1
403:per_452h78
26
FAIR Data
https://www.go-fair.org/fair-principles/
• Ontologies Mapping
https://www.pistoiaalliance.org/projects/current-projects/ontologies-mapping/
• FAIR Implementation Project & Toolkit
https://www.pistoiaalliance.org/projects/current-projects/fair-implementation/
Findable Accessible Interoperable Reusable
FAIR Data is Linked Data is a Knowledge Graph
27
Knowledge Graphs :
Now for a cross-industry perspective
28
Additional Reading
General / Introductory
• A Data Engineer’s Guide to Semantic Modeling - Maresi . Free e-book download.
• The Data Centric Revolution - McComb
Technical
• Semantic Web for the Working Ontologist (3rd Ed, 2020) – Hendler, Gandon, Allemang
• Demystifying OWL for the Enterprise – Uschold, Ding, Groth
• Validating RDF Data – Gayo, Prud’hommeaux, Boneva . Comparison of SHEX and SHACL.
• Learning SPARQL - DuCharme . Learn RDF by querying the data.
• 3D-force-graph Network graph visualizations in this presentation.
https://bit.ly/PamAndRay
https://bit.ly/RayDemogAndSHACL
https://bit.ly/RaySHACLResult https://bit.ly/PamAndRayTTL
Pam and Ray Exposure Data
29
Reference Slides
30
The Roofshot / Moonshot Manifesto
Concept & Image Attribution: https://rework.withgoogle.com/blog/the-roofshot-manifesto/
Examples
1. Unique Identifiers
2. Validation Rules in SHACL
3. Open Ontology Development for your domain
Invent and apply state-
of-the-art
Roofshot
Incremental impacts
in production
Moonshot
• Enterprise and Industry
Knowledge Graphs
• Across the Data Life Cycle
31
Industry Knowledge Graphs
Demonstrations
Results Data as RDF
Enterprise Knowledge Graphs
Prototype
Industry Standards & Models
Terminology and Coding
The Stairway
to the Stars
Manifesto
32
Unique Identifiers for Pharma
Validation Rules in SHACL
Study Design
Study Protocol

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Knowledge Graphs: Changing How We Think About Data

  • 1. A Conversation with PHUSE, Stardog, and FDA DRSI Knowledge Graphs: Changing How We Think About Data.
  • 2. Presenters Tim Williams • Knowledge Graph Project Lead, PHUSE • Lead Statistical Solutions Analyst, UCB Biosciences Laura Firey • Product Manager, Stardog 2
  • 3. • Knowledge Graphs [ ~20 min] • Cross Industry Perspective [~10min] • Open Discussion [~30min] Outline Most important: “A Conversation...” 3
  • 4. PHUSE Linked Data Projects • CDISC Foundational Standards in RDF • CDISC Conformance Checks • Reusing Medical Summaries for Enabling Clinical Research • Regulatory Guidance in RDF • Clinical Program Design in RDF • CDISC Protocol Representation Model in RDF • Analysis Results & Metadata • RDF Data Cubes for clinical trial results • Clinical Trials Data as RDF • Study Data Tabulation Model as Linked Data • Going Translational with Linked Data • Study Data Validation and Submission Conformance • Pre-clinical data + submission metadata 4
  • 5. PHUSE Linked Data Workshop 5
  • 7. Knowledge Graph Data-Centric Model • Use-case neutral • Real-world processes, entities, relationships Person 1 Hookah Person 2 • Knowledge Graph as Resource Description Framework (RDF) e-Cigarette smokes e-Cigarette smokes smokes smokes The whiteboard model you draw is the data. 7
  • 8. • Shared Definitions and Understanding – What is a Tobacco Product? – Who is a Tobacco User? • Coding of – Medical Conditions – Adverse Events – Products, Manufacturers • Data Classification, Rules, Validation.. • Ontology Driven/Supported Knowledge Graphs Facilitate Standards 8
  • 9. • Dictionary – terms and their definitions • Taxonomy – class hierarchy • Thesaurus – relationships between terms Ontology-based Knowledge Graph Standards • Rules and Restrictions – Group membership, exclusions, types – Employ reasoner, infer values, relations A Data Engineer’s Guide to Semantic Modelling Ilaria Maresi (June 2020) http://blog.thehyve.nl/news/ebook-semantic-model What is an Ontology? 9
  • 10. Standards: Identifier Examples 1,2,3-TrihydroxypropaneGlycerolGlycerin http://dbpedia.org/page/GlycerolGlycerin • Common terminology • Link to other Knowledge Graphs • Manufacturers• Devices • Products • Ingredients RDF • Uniform Resource Identifier (URI) • Internationalized Resource Identifier (IRI) 10
  • 11. • What ingredient may have contributed to Pam having COPD while Ray does not? Knowledge Graph: Easy Answers to Complex Questions COPD 11
  • 12. Ray_GillettePam_Poovey COPD Hookah smokes smokes smokes smokes e-Cigarette e-Cigarette :man_v241kz Hookah_Me_Up! Tobacco :ing_a6766s Dried_Mint :ing_2we3q4 Honey Glycerin :ing_xr7234:ing_3j6g2i manufacturer:pro_81fq21 contains ingredient Mint_Shisha Mint_Flavor :ing_hjk66g Nicotine :ing_q77e3u:man_5ez82i e-CignatureMango_Flavor :ing_4fg421 Nicotine :ing_q77e3u contains contains : pro_0wq01h:pro_a60e2b ingredientingredient manufacturer Mango_Flavor_Pod Mint_Flavor_Pod :dev_zr10q2 :dev_u18lsd :dev_aq174h :per_452h78:per_xp52kl sex age wt sex age wt 12
  • 13. Exposure Data View the interactive visualization at: https://bit.ly/PamAndRay Data error Person Demographics Entity Type Device Ingredients Product Manufacturer 13
  • 14. This seems complicated! “People think RDF is a pain because it is complicated. The truth is even worse. RDF is painfully simplistic, but it allows you to work with real-world data and problems that are horribly complicated.” - attributed to Dan Brickley and Libby Miller 14
  • 16. Pam’s Unique Exposure Ingredient? PamUniqueIngred.rq 16
  • 17. • Who is a TobaccoUser ? Ontology Revisited • uses • smokes • consumes • chews ... User Tobacco • What is a TobaccoProduct? Tobacco Hookah Cigar e-Cigarette Cigarette contains contains contains ? ? Mint_Shisha Corojo Virginia Mango_Flavor_Pod contains ingredient ingredient ingredient ingredient contains ingredient :Person :Device :Device :Product :Ingredient :Product :Ingredient 17
  • 18. Ray_Gillette :per_452h78 Pam_Poovey :per_xp52kl :dev_zr10q2 :man_v241kz :dev_u18lsd Hookah_Me_Up! :dev_aq174h Hookah Tobacco :ing_a6766s Dried_Mint :ing_2we3q4 Honey Glycerin :ing_xr7234:ing_3j6g2i smokes contains contains manufacturer : pro_0wq01h:pro_a60e2b smokes smokes smokes :pro_81fq21 contains e-Cigarette e-Cigarette Mint_Shisha Mango_Flavor_Pod Mint_Flavor_Pod sex age wt sex age wt ingredient Tobacco Smoker: The path between Person and Ingredient :Ingredient :Product :Device:Person :Person 18
  • 20. Tobacco Smoker: Ontology Definition & Query TobaccoSmoker-Infer.rq 20
  • 21. Data Validation Validating Ray’s Demographics data 21
  • 22. SHApes Constraint Language (SHACL) “Person Shape” (Validation Constraints) Person Data Data Has Shape. Validation has Shape. 22
  • 23. SEX AGE M SHACL Person Shape WEIGHT Demographics sex: M age: 43 wt: 165 Validating Ray’s Demographics Ray Gillette Data Entry M/F/U 165 403 > 0 < 800 > 0 < 120 Violation! 23
  • 24. Validating Age with SHACL https://bit.ly/RayDemogAndSHACL View the interactive visualization at: Instance Data SHACL Shape 24
  • 25. Demographics, Constraints, Report https://bit.ly/RaySHACLResult View the interactive visualization at: Instance Data SHACL Shape Validation Result 25
  • 26. Metadata is Part of the Graph Ray_Gillette M 165 sex age wt 2020-08-01 Duke U. Clinic Dr. A. Krieger enteredBy site entryDate :per_g367k1 403:per_452h78 26
  • 27. FAIR Data https://www.go-fair.org/fair-principles/ • Ontologies Mapping https://www.pistoiaalliance.org/projects/current-projects/ontologies-mapping/ • FAIR Implementation Project & Toolkit https://www.pistoiaalliance.org/projects/current-projects/fair-implementation/ Findable Accessible Interoperable Reusable FAIR Data is Linked Data is a Knowledge Graph 27
  • 28. Knowledge Graphs : Now for a cross-industry perspective 28
  • 29. Additional Reading General / Introductory • A Data Engineer’s Guide to Semantic Modeling - Maresi . Free e-book download. • The Data Centric Revolution - McComb Technical • Semantic Web for the Working Ontologist (3rd Ed, 2020) – Hendler, Gandon, Allemang • Demystifying OWL for the Enterprise – Uschold, Ding, Groth • Validating RDF Data – Gayo, Prud’hommeaux, Boneva . Comparison of SHEX and SHACL. • Learning SPARQL - DuCharme . Learn RDF by querying the data. • 3D-force-graph Network graph visualizations in this presentation. https://bit.ly/PamAndRay https://bit.ly/RayDemogAndSHACL https://bit.ly/RaySHACLResult https://bit.ly/PamAndRayTTL Pam and Ray Exposure Data 29
  • 31. The Roofshot / Moonshot Manifesto Concept & Image Attribution: https://rework.withgoogle.com/blog/the-roofshot-manifesto/ Examples 1. Unique Identifiers 2. Validation Rules in SHACL 3. Open Ontology Development for your domain Invent and apply state- of-the-art Roofshot Incremental impacts in production Moonshot • Enterprise and Industry Knowledge Graphs • Across the Data Life Cycle 31
  • 32. Industry Knowledge Graphs Demonstrations Results Data as RDF Enterprise Knowledge Graphs Prototype Industry Standards & Models Terminology and Coding The Stairway to the Stars Manifesto 32 Unique Identifiers for Pharma Validation Rules in SHACL Study Design Study Protocol