switch on webex. examples of new ontologies using bfo actionable intelligence retrieval system...
TRANSCRIPT
switch on Webex
Examples of new ontologies using BFO
• Actionable Intelligence Retrieval System (AIRS)• US Transcom (Transportation Command)
Enterprise Ontology (http://www.securboration.com/)
• Mental Functioning Ontology (MFO), Emotion Ontology (MFO-EM)
• Financial Report Ontology: FRO– here BFO (and IAO) must be under the hood
FMA: BFO under the hoodAnatomical Entity
Physical Anatomical Entity
Material Physical Anatomical Entity
-is a-
Non-material Physical Anatomical Entity
ConceptualAnatomical Entity
AnatomicalStructure
BodySubstance
BodyPart
HumanBody
OrganSystem
OrganCell
OrganPart
AnatomicalSpace
Anatomical Relationship
CellPart
Biological Macromolecule
Tissue
Non-Physical
Anatomical Entity
Physical Anatomical Entity
Material Physical Anatomical Entity
-is a-
Non-material Physical Anatomical Entity
ConceptualAnatomical Entity
AnatomicalStructure
BodySubstance
BodyPart
HumanBody
OrganSystem
OrganCell
OrganPart
AnatomicalSpace
Anatomical Relationship
CellPart
Biological Macromolecule
Tissue
Anatomical Entity
Physical Anatomical Entity
Material Physical Anatomical Entity
-is a-
Non-material Physical Anatomical Entity
ConceptualAnatomical Entity
AnatomicalStructure
BodySubstance
BodyPart
HumanBody
OrganSystem
OrganCell
OrganPart
AnatomicalSpace
Anatomical Relationship
CellPart
Biological Macromolecule
Tissue
Non-Physical
Blue Force Overwatch
The Plant Ontology
cROP: Common Reference Ontologies for Plants
Role of BFO in OBO Foundry
• OBO Foundry and related suites of ontologies will work only if their component ontologies are orthogonal
• Orthogonality can be established only if these ontologies are comparable
• BFO is at the core of the strategy to ensure compatibility
id: HP:0001943 ! Hypoglycemia = = decreased concentration of glucose in the blood
• intersection_of: PATO:0001163 ! decreased concentration• intersection_of: qualifier PATO:0000460 ! abnormal• intersection_of: towards CHEBI:17234 ! glucose• intersection_of: inheres_in FMA:9670 ! Portion of blood
Class: Hypoglycemia ≡ decreased concentration &towards some glucose & inheres_in some portion of blood & qualifier some 'abnormal‘
P. Robinson: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3224779/http://www.ncbi.nlm.nih.gov/pubmed/23104991
HP:0001720 ! tachycardiaProcess: GO:0060048 cardiac muscle contractionQuality: PATO:0000912 increased rate
PATO:Rate =def. A quality of a single process inhering in a bearer by virtue of the bearer's occurrence per unit time
logically: rate(r,p) =def. p is a process & p consists of a sequence of similar sub-processes & these sub-processes repeat r times per unit time
Note that there is no reference to a quality or to inherence here
Tachycardi
• Thus Tachycardia only exists if there is the sort of cyclical repetition of cardiac muscle contraction that is involved in the heart's beating.Thus Tachycardia is not a rate of cardiac muscle contraction, but rather a rate of cardiac muscle contraction repetition.
Treatment of ‘process qualities’• ‘BFO:quality’ just means: a quality of an
independent continuant • PATO:process-quality uses 'quality' in a
different sense; providing this sense is well-defined, there is no objection to its use. Unfortunately most PATO:process-quality terms are currently poorly defined. The hope is that use of BFO 2.0 can help to bring improvements.
rate (rough version)
rate(r,p) =def. p is a process & p consists of a sequence of similar sub-processes & these sub-processes repeat r times per unit time
increased-rate(r,p) = def. p is such that r is greater than a certain normal threshold (defined for each particular kind of patient)
There are numbers here, and time units, and thresholds for numbers.
But there are no extra entities called ‘process qualities’
• If we observe that there are 3 apples in a bowl on Wednesday and 2 apples in the same bowl on Thursday, then we could express this by saying that the apples in the bowl had the quality of threeness on Wednesday and the quality of twoness on Thursday.
• People could talk like that if they wanted, butit would be ontologically much less adequate than just the assertion underlined above.
Similarly,if we observe that there is a 63 bpm heart rate in a patient on Wednesday and 102 bpm heart rate in the same partient on Thursday, then we could express this by saying that the heart beat process of the patient had the quality of sixtythree-bpm-ness on Wednesday and ofonehundredandtwo-bpm-ness on Thursday. People could talk like that if they wanted, butit would be ontologically much less adequate than just the assertion underlined above/
•63bpm Wednesday and 102 bpm in the same patient on Thursday
i.e. more beats per minute on Thursday
What BFO is designed to do
• BFO is not intending to constrain what people say, merely to provide a formally coherent basis for definitions (for example in PATO).
• Given this basis, it should be possible to define all the terms one needs, including all the terms one needs from PATO.
Which general terms refer to universals?
For some general terms X we can formulate definitions of the following sort:
(C) Collection of X’s =def. collection of particulars of type X.
How do we determine whether for (C) holds of a given term ‘X’? This is the job of scientists, in an on-going process of terminology evolution through which those terms come to be selected for that are fit to serve in successive formulations of the corresponding scientific theory.
Which general terms refer to universals?
Each scientific theory as it exists at any given stage will likely be marked by (as yet unidentified) terminologically relevant errors, and these errors will accordingly be carried over into the corresponding ontology. Hence, we cannot embrace any one-one correspondence between scientific general terms and universals in reality. Rather, we should assume, for heuristic purposes only, that at any given stage the terms used by scientists in a given discipline refer to universals, knowing full well that this assumption may be false for any given term.
Qualities determinable and determinate
temperatureblood pressuremass...
are continuantsthey exist through time while undergoing changes
17
Qualitiestemperature / blood pressure /
mass ...are dimensions of variation within the structure of the entity; a quality is something which can change while its bearer remains one and the same
18
A Chart representing how John’s temperature
changes
19
Qualities
temperature / blood pressure / mass ...are dimensions of variation within the structure of the entity; a quality is something which can change while its bearer remains one and the samehence only independent continuants may have qualities
20
John’s temperature
the temperature John has throughout his entire life, cycles through different determinate temperatures from one time to the next
John’s temperature is a physiology variable which, in thus changing, exerts an influence on other physiology variables through time
21
temperature
John’s temperature
22
37ºC 37.1ºC 37.5ºC37.2ºC 37.3ºC 37.4ºC
instantiates at t1
instantiates at t2
instantiates at t3
instantiates at t4
instantiates at t5
instantiates at t6
One issue
Chris Mungall:
BFO should have some documented position as to •determinables are still present when their value is zero •OR physics is such that no true determinable can take on a zero value.
a quality is something which can change while its bearer remains one and the samehence only independent continuants may have qualities for suppose q were a quality of a processthen q would have to be something which could change while the process, its bearer, would remain one and the same – and this is not possible
24
temperature course
John’s temperature
25
increasing temperature
course
constant temperature
course
decreasing temperature
course
instantiates at t1
instantiates at t4
instantiates at t5
temperature
John’s temperature
37.2º37.2ºCC
instantiates at t3
unit of measurement
ºC
measures
information artefact
measurement record
“John has temperature 37.2ºC at t3”
instantiates
about
uses
John
inheres_in
temperature
John’s temperature
37.2ºCtemperature
instantiates at t3
unit of measurement
ºC
measures
information artefact
measurement record
“37.2ºC at t3”
instantiates
about
uses
about
about
note re IAO aboutness
BFO: The Very Top
continuant
independentcontinuant
dependentcontinuant
quality
occurrent
temperature 28
Blinding Flash of the Obvious
independentcontinuant
dependentcontinuant
quality
temperature types
instances
organism
John John’s
temperature 29
Blinding Flash of the Obvious
independentcontinuant
dependentcontinuant
quality
temperature types
instances
organism
John John’s
temperature 30
independentcontinuant
dependentcontinuant
quality
temperature types
instances
organism
John John’s
temperature
31
Can sites have histories?Full process(p) =def. there is some spatiotemporal regions r & p is the sum of all processes occurring in r
A history is a full process
Participants of a history: independent continuant, site – but what if they coincide spatio-temporally
32
Process profiles
Full process(p) =def. there is some spatiotemporal regions r & p is the sum of all processes occurring in r
Example of full process: history
Process profile = a process that is less than a full process
33
Canonical example
• A spinning top is spinning• A spinning top is simultaneously
warming
The spinning and the warming are both proper parts of the full process (= all the processes taking place within the
34
Families of process profiles
• Quality process profiles• Measurement/assay process profiles• Scientific discipline demarcated
process profiles• Diseases• Speech, music, thinking, writing,
dancing …
35
Relative process profiles
36
independentcontinuant
dependentcontinuant
quality
temperature
organism
John John’s
temperature
occurrent
process
life of an organism
John’s life
37
independentcontinuant
dependentcontinuant
quality
temperature
organism
John John’s
temperature
occurrent
process
course of temperature
changes
John’s temperature history
38
process profile
quality process profile
independentcontinuant
dependentcontinuant
quality
temperature
organism
John John’s
temperature
occurrent
process
life of an organism
John’s life
39
independentcontinuant
dependentcontinuant
quality
temperature
organism
John John’s
temperature
occurrent
process
metabolism of an organism
John’s metabolism
40
process profile
independentcontinuant
dependentcontinuant
quality
temperature
organism
John John’s
temperature
occurrent
process
growth of an organism
John’s growth
41
process profile
independentcontinuant
dependentcontinuant
quality
temperature
organism
John John’s
temperature
occurrent
process
development of an organism
John’s development
42
process profile
temperature
John’s temperature
43
37ºC37.1º
C37.5º
C37.2º
C37.3º
C37.4º
C
instantiates at t1
instantiates at t2
instantiates at t3
instantiates at t4
instantiates at t5
instantiates at t6
human
John
embryo
fetus adultneonat
einfant child
instantiates at t1
instantiates at t2
instantiates at t3
instantiates at t4
instantiates at t5
instantiates at t6
human
John
45
embryo
fetus adultneonat
einfant child
instantiates at t1
instantiates at t2
instantiates at t3
instantiates at t4
instantiates at t5
instantiates at t6
in nature, no sharp boundaries here
portion of water
this portion of H20
46
portion of ice
portion of liquid water
portion of gas
instantiates at t1
instantiates at t2
instantiates at t3
Phase transitions
temperature
John’s temperature
47
37ºC37.1º
C37.5º
C37.2º
C37.3º
C37.4º
C
instantiates at t1
instantiates at t2
instantiates at t3
instantiates at t4
instantiates at t5
instantiates at t6
in nature, no sharp boundaries here
in nature, no sharp boundaries here
48
heart disease
John’s heart disease (continuant)
49
disease with asymptomatic disease, silent
infarction
disease with early lesions
and small fibrous plaques
disease with
stable angina
disease with surface disruption of plaque
disease with
unstable
angina
instantiates at t2
instantiates at t3
instantiates at t4
instantiates at t5
instantiates at t6
What is the course of John’s heart disease?
52
independentcontinuant
dependentcontinuant
disposition
heart disease
organism
John John’s
heart disease
occurrent
process
heart disease course
John’s heart disease course
53
process profile
heart function: to
pump
John’s heart function: to pump
55
pumping function of heart after
fatality
instantiates at t7
heart function: to
pump
John’s heart function: to pump
56
pumping function of
healthy heart
instantiates at t1
this portion of deoxygenated blood
1
instantiates at t1
material entity
portion of blood
this portion of oxygenated blood
instantiates at t1
material entity
portion of blood
has input has output
heart function: to
pump
John’s heart function: to pump
57
instantiates at t1
this clot1
instantiates at t1
this clot
instantiates at t1
material entity
clot
has input has output
pumping function of
healthy heart
heart function: to
pump
John’s heart function: to pump
58
pumping function of
healthy heart
instantiates at t1
this portion of blood
instantiates at t1
material entity
oxygenated portion of blood
this concentration
instantiates at t1
quality
concentration of oxygen
has output need to get time right
Continuant Occurrent
IndependentContinuant
SpecificallyDependentContinuant
Quality
ProcessGenericallyDependentContinuant
Information Artifact
Sequence…
GDCs
• universals are unchangeable -- GDCs are always such that they are changeable (there are instances of the relevant universal which can change, e.g. successive editions of books)
• lower levels of types do not ‘carry identity’ in OntoClean terms
• are threshold divisions (hence we do not have sharp boundaries, and we have a certain degree of choice, e.g. in how many subtypes to distinguish, though not in their ordering)
61
independentcontinuant
dependentcontinuant
quality
temperature types
instances
organism
John John’s
temperature
62
independentcontinuant
dependentcontinuant
quality
temperature
organism
John John’s
temperature
occurrent
process
course of temperature
changes
John’s temperature history
63
independentcontinuant
dependentcontinuant
quality
temperature
organism
John John’s
temperature
occurrent
process
life of an organism
John’s life
64
temperature
John’s temperature
37.2ºC temperatur
einstantiates at t3
information artefact
measurement datum
“37.2ºC at t3”
instantiates
measurement assay
quality process
temperature assay at t3
instantiates
has outputJohn
has_input
about
BFO: The Very Top
continuant
independentcontinuant
dependentcontinuant
67
dependentcontinuant
quality realizable dependentcontinuant
68
role(optional)
disposition(has physical
basis)
dependentcontinuant
quality realizable
role(optional)
disposition(aka ‘ability’)
function(a disposition designed
or selected for)
:.
Role of some chemical compound: to serve as analyte in an experiment
of this human being: to serve as PI of this research project
70
:.
Role optional:exists because the bearer is in some special natural, social, or institutional set of circumstances in which the bearer does not have to be
71
:.
Rolesoften form systems of mutual dependence
husband / wife first in queue / last in queuedoctor / patient
host / pathogen
72
:.
Function - of liver: to store glycogen- of birth canal: to enable transport- of eye: to see- of mitochondrion: to produce ATP
reflection of physical makeup of bearer 73
:.
Qualities are categorical features of reality – you just have them
Functions, roles and dispositions are potential featires of reality: they are realizable dependent continuants, realized in certain associated processes
74
independentcontinuant
dependentcontinuant
role
drug role
portion of chemical compound
this portion of aspirin
role of this portion of aspirin
occurrent
process
process of drug
adminstration
John’s taking this portion of aspirin
75
independentcontinuant
dependentcontinuant
role
drug role
portion of chemical compound
this portion of aspirin
role of this portion of aspirin
occurrent
process
process of drug
adminstration
John’s taking this portion of aspirin
76
inheres_in
realized_in
• The Road to Convergence
All ontologies for each given domain (anatomy, chemistry…) should be part of a single suite of interoperable ontologies
should use a common top-level corefor subdomains with many variants, should
follow the strategy of canonical ontologies with extensions
should require acceptance of common, tested guidelines on all subscribing ontology developers
77
CONTINUANT OCCURRENT
INDEPENDENT DEPENDENT
ORGAN ANDORGANISM
Organism(NCBI
Taxonomy)
Anatomical Entity
(FMA, CARO)
OrganFunction
(FMP, CPRO) Phenotypic
Quality(PaTO)
Organism-Level Process
(GO)
CELL AND CELLULAR
COMPONENT
Cell(CL)
Cellular Compone
nt(FMA, GO)
Cellular Function
(GO)
Cellular Process
(GO)
MOLECULEMolecule
(ChEBI, SO,RnaO, PrO)
Molecular Function(GO)
Molecular Process
(GO)
initial OBO Foundry coverage, ontologies automatically semantically coupled
GRANULARITY
RELATION TO TIME
78
Disposition (Internally-Grounded Realizable
Entity)disposition =def.
a realizable entity which if it ceases to exist, then its bearer is physically changed, and whose realization occurs when this bearer is in some special physical circumstances, in virtue of the bearer’s physical make-up
79
Anatomy Ontology(FMA*, CARO)
Environment
Ontology(EnvO)
Infectious Disease
Ontology(IDO*)
Biological Process
Ontology (GO*)
Cell Ontology
(CL)*
CellularComponentOntology
(FMA*, GO*) Phenotypic Quality
Ontology(PaTO)
Subcellular Anatomy Ontology (SAO)Sequence Ontology
(SO*) Molecular Function
(GO*)Protein Ontology(PRO*) OBO Foundry Modular Organization
top level
mid-level
domain level
Information Artifact Ontology
(IAO)
Ontology for Biomedical
Investigations(OBI)
Spatial Ontology(BSPO)
Basic Formal Ontology (BFO)
80
Relations
instance-instance (primitives allow definitions)instance-typetype-type
RO 2.0 type-type – All-some rule holdsadd causes dependence includes mutual dependence among
roles, functions
Keep RO 2.0 small
‘depends_on’ is short for ‘specifically_depends_on’
‘generically_depends_on’ is written out in full
life ofhas physical basis
address relations between
• site,• located_in• contained_in
RO 2.0 lists simple relations (such as depends_on);
there are many complex defined relations (such as inheres_in,
is_quality_of)
A inheres_of B =def. A depends_on B and A is_a dependent continuant and B is_a independent
continuantA is_quality_of B =def. A depends_on B and A is_a
quality and B is_a independent continuant
starting point is here (Work of Chris Mungall)
• http://www.fruitfly.org/~cjm/ro/ro.html
Generic Dependence
• Specific Dependence • Duration of
Get versioning right
• CL is a standard version
keep ‘derives from’
• change examples• recommend biologists use ‘develops from’• location involves site?• vaccine, clinical outcome, effectiveness
prevention, diagnosis, treatment, clinical registry ogms
The Relation Ontology
• immanent relations in BFO– specific dependence– generic dependence– realization
89
How to use the RO all–some form
• LMO2 molecules interact with ELF2 molecules false
• LMO2 molecules have the disposition to interact with ELF2 molecules true
Axioms
• ALL Occurrent depends_on SOME Continuant• ALL DependentContinuant depends_on SOME
IndependentContinuant• ALL IndependentContinuant occupies SOME
3D SpatialRegion• ALL Site occupies SOME 3D SpatialRegion• ALL BoundaryOfObject occupies SOME 0, 1 or
2D SpatialRegion
91
Axioms
• ALL BoundaryOfObject is_part_of SOME Object
• ALL Object has_part SOME BoundaryOfObject• ALL ProcessualEntity occurs_in SOME
SpatiotemporalRegion• ALL ProcessualEntity has_participant SOME
IndependentConinuant
92
Only something that holds of all As will be an assertion that holds of the type A
Hence the All-Some ruleOr analogous rules for n-ary relations
(where n > 2)
93
Definitions of type-level relations presuppose underlying instance-level relations
A is_a B presupposes instance_ofAll instances of A are instances of B
A part_of B presupposes instance-level-part-ofEvery instance of A are instance-level-parts-of
some instance of B
Rules for including relations in RO
To avoid forking, keep RO as small as possibleIf we have a relation, say, adjacent_to in RO, then we should not add lists of easily defined relations of the form
adjacent_to_organ: adjacent_to_cytoplasm:adjacent_to_neuron:
In general: include a relation only if it is lexicalized
•
95
Rules for including relations in RO
In every case we need to check, before we add a relation A R B, that, for some set of A and B terms we have data about the As and data about the Bs which is such that
all the instances of A stand in instance-level R to some B
e.g. all the instances of cell membrane stand in instance-level part_of to cell
96
Rules for including relations in RO
Some_some relations are important not to ontology but to the treatment of empirical data e.g. relating to exceptions to proposed general hypotheses
However, in developing RO, we will need to keep track of instance-level relations in any case, and then corresponding some-some relations (and also various kinds of probabilistic relations) come for free
•
97
Thus for example
Instead of:•
results_in_reception_of_stimulus_and_conversion_into_molecular_signal_of
use just the relations:•
results_in, is_aand the types:
reception_of_stimulus, conversion_into_molecular_signal
98
Or in other words:
A results_in_reception_of_stimulus_and_conversion_into_molecular_signal_of B=Def.
A results_in B & B is_a reception_of_stimulus& B is_a conversion_into_molecular_signal
99
Consequences of including only all-some relations in RO
All relations will be evaluable as1. Transitive2. Symmetric3. Reflexive4. Anti-Symmetric
All relations will support reasoningis_somehow_related_to
is the worst kind of relation to create100
True Path Rule
the pathway from a child term all the way up to its top-level parent(s) must always be true (Gene Ontology Consortium, 2001)
= both is_a and part_of are transitive
LacksInstance-type level
p lacks U with respect to r at time t =def. there is no instance u of U such that p stands in r to u at t.
Type-type level C1 lacks C2 with respect to r =def. for all c,t, if c instance of C1 at t then c lacks C2 with respect to r at time t.
Need a way to state on top of this: that C1s normally stand in r to some C2
To be added to the Relation OntologyRO Core (examples)
• dependent_on (between a dependent entity and its carrier or bearer)
• quality_of (between a dependent and an independent continuant)
• functioning_of (between a process and an independent continuant)
To be added to the Relation OntologyRO Core (examples)
• dependent_on (between a dependent entity and its carrier or bearer)
• quality_of (between a dependent and an independent continuant)
• functioning_of (between a process and an independent continuant)
To be added to the Relation OntologyRO IL (instance-level relations) (examples)
• lacks (between an instance and a type, e.g. this pig lacks tail)
• dependent_on (between a dependent entity and its carrier or bearer)
• quality_of (between a dependent and an independent continuant)
• functioning_of (between a process and an independent continuant)
• process has_site a = process has_participant b and b part_of a
process has_site alveolar membrane = process has_participant hemoglobin and hemoglobin part_of alvealor membrane
process:injection has_site jugular vein = process has participant (some dose of compound in the form of liquid with role drug) and (some dose of compound in the form of liquid with role drug) part_of jugular vein .
Why going for such convolution ? What is the gain here ?What is the cost of adding a primitive (when there is a valid case for it)
All this is declared at instance level but surely all instances of intrajugular injection must take place in some jugular vein(I am of course talking of canonical injection, not those performed by trainees )
disposition =def.
a realizable entity which if it ceases to exist, then its bearer is physically changed, and whose realization occurs when this bearer is in some special physical circumstances, in virtue of the bearer’s physical make-up
107
function =def.
a disposition thatis such that the physical make-up of its bearer is something the bearer possesses because it came into being, either through natural [‘positive’?] selection (in the case of natural biological entities) or through intentional design (in the case of artifacts), in order to realize processes of a certain kind.
Relation Ontology 2.0
ROhttp://obofoundry.org/ro/
is_apart_of
has_partlocated_in
contained_inadjacent_to
transformation_ofderives_frompreceded_by
has_participanthas_agent
Multiple defined relationsplus: instance_of, instance-level relations
Strategy
Small number of relations to be added to this listThe whole list to be incorporated into BFO 2.0Other relations
New Proposed Relations
specific dependence (between SDC and bearer)generic dependence (between GDC and bearer)concretization of (between SDC and GDC)boundary_ofrealizesis_aboutlacksprojects_onto (region)
LacksInstance-type level
p lacks U with respect to r at time t =def. there is no instance u of U such that p stands in r to u at t.
Type-type level C1 lacks C2 with respect to r =def. for all c,t, if c instance of C1 at t then c lacks C2 with respect to r at time t.
Defined relations in RO 2.0
• a inheres_in b=def. a is specifically dependent on b (a and b are continuants)
• quality_of =def. a inheres_in b and a is a quality
• functioning_of (between a process and an independent continuant)
To be added to the Relation OntologyRO IL (instance-level relations) (examples)
• lacks (between an instance and a type, e.g. this pig lacks tail)
• dependent_on (between a dependent entity and its carrier or bearer)
• quality_of (between a dependent and an independent continuant)
• functioning_of (between a process and an independent continuant)
How to deal with shapes?
Shapes seem to be qualities of spatial regions as well as of independent continuants, but BFO says all qualities are qualities of independent continuants
The spatial subdivisions used e.g. in sampling experiments
to be dealt with as fiat parts of sites.
Clarifications needed
• Time, duration, time point• Spatial extent, distance, gap quality, spatial
coordinate: length as quality vs. length of spatial interval