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License: Creative Commons Attribution 4.0 International
The home of the Drosophila phenotype ontology
License: Creative Commons Attribution 4.0 International
FlyBase_miscellaneous_CV
?
From Sylvie, by email:
NEW terms request:
Intracellular transport defective
¬ Child term: Axonal transport defective
I don’t see any particularly good place within the fb_cv ontology to place these terms, so I’d suggest just adding them to the main trunk
Suggested definitions and relevant GO terms:
‘Intracellular transport defective’
Phenotype that is a defect in intracellular transport (GO:0046907). ‘Intracellular transport’ is defined as: ‘The directed movement of substances within a cell.’
id: GO:0046907
name: intracellular transport
namespace: biological_process
alt_id: GO:1902582
def: "The directed movement of substances within a cell." [GOC:ai]
subset: gosubset_prok
synonym: "single organism intracellular transport" RELATED [GOC:TermGenie]
synonym: "single-organism intracellular transport" RELATED []
is_a: GO:0006810 ! transport
is_a: GO:0051641 ! cellular localization
is_a: GO:0051649 ! establishment of localization in cell
relationship: occurs_in: GO:0005622 ! intracellular
intersection_of: GO:0006810 ! transport
intersection_of: occurs_in GO:0005622 ! intracellular
‘Axonal transport defective’
Phenotype that is a defect in axonal transport (GO:0098930). ‘axonal transport’ is defined as: ‘The directed movement of organelles or molecules along microtubules in axons.’
id: GO:0098930
name: axonal transport
namespace: biological_process
def: "The directed movement of organelles or molecules along microtubules in axons." [ISBN:0815316194]
subset: goslim_synapse
synonym: "axon cargo transport" EXACT []
synonym: "axoplasmic transport" EXACT []
xref: Wikipedia:Axoplasmic_transport
is_a: GO:0008088 ! axo-dendritic transport
relationship: occurs_in: GO:0030424 ! axon
We need terms for the movement phenotypes described here:
https://elifesciences.org/articles/04493
(relationship to hemi-lineages might also be worth considering)
Revert this commit:
7326d11
When PCO gets rid of of the axioms:
<rdfs:isDefinedBy rdf:resource="http://www.geneontology.org/formats/oboinowl.owl"/>
@dosumis Would you mind extending this pattern to allow the generation of
I think on second thought the issues referenced here are not the same after all. The ticket should be sufficiently general: allow committing ALL columns pertaining to any kinds of annotations; But the current attempt to extend the uPheno patterns was actually dbxrefs on the terms. If we want dbxrefs on the EQs and the human readable diffs, we need to do some more work to extend the general uPheno scheme. If I get an example from you, I can get the ball rolling! Merci :)
lethal phenotypes currently have rather complex names that could be simplified in a relatively obvious way.
lethal - all die before end of embryonic stage -> embryonic lethal
Current names should be kept as synonyms.
(I can only think that I got carried away with naming consistency. Other lethal phase terms are not so easy to simplify: some die during embryonic stage != embryonic semi-lethal)
[Typedef]
id: has_role
name: has role
In simple
http://purl.obolibrary.org/obo/upheno/patterns-dev/abnormallyIncreasedRateOfBehavior.yaml
http://purl.obolibrary.org/obo/upheno/patterns-dev/abnormallyDecreasedRateOfBehavior.yaml
sleep - GO:0030431
feeding behavior - GO:0007631
Some downstream tools get a bit confused by this:
drosophila-phenotype-ontology/dpo-full.obo
Line 15821 in a746a8d
(There already is a correctly mapped has participant
role). The root of the problem is CARO, which contains http://www.obofoundry.org/ro/ro.owl#has_participant in its signature. Should be fixed at some point.
CC @aoifelarkin - could you add some examples?
Need behavioural terms "Hunch" and "Bend"
http://dx.doi.org/10.1016/j.cell.2016.09.009
see also FlyBase/drosophila-anatomy-developmental-ontology#188
see also VirtualFlyBrain/Management#33
Import the Janelia Phenotypes CV directly into DPO (Wyatt showed them during SAB)
Us integrating those would give them immediately access to related GO processes, anatomical entities etc.
The following 4 definitions contain disjunctions (OR statements), which will obstruct their classification in a multispecies context. It also seems that this makes them unnecessarily complex;
EDIT:
The three behaviours where now changed to the 'inheres in part of' pattern.
The original dpo.owl (still in src/trunk/ontology at the time of ticket writing) defined lethal phase terms using BFO_0000060 which it defined as 'precedes'. This term appears to be obsolete and where I can find a record of its usage, it is mapped to BFO_0000062 = preceded_by - the opposite of what we need!!
Somehow this mapping has been used to update the relation in the new DPO, resulting in an inverted hierarchy following reasoning.
Fix: switch all usage in DPO to BFO_0000063
(copied from some old meeting minutes I have now retired)
Initial focus of behavior terms should be movement behaviors - coming from big screens
We will need behavior terms in order to define these new phenotypes.
We need to avoid getting too hung up on where these behavior terms live. There are 3 possibilities:
Some Relevant branches:
Relevant tickets
Behavior phenotype patterns
Screens generally measure an increase or decrease in some movement, e.g.
Q: Increased frequency of
E: wing flicking
Qual: Abnormal
Sometimes we need social/environmental context:
Near wall
male behavior during pursuit of female
Male behavior while facing female
FlyBowl
Unsupervised learning revealed behaviour that people have not noticed before
Winflick Glossary
Behaviour Map
Headless flies
Should we create our own fly behaviour ontology
UBERON-CARO tension
How to fold in anatomy:
Increased Frewuency of Kinethetic movement
…
…
Priority on things that we have circuits on
Olfactory behaviour is weird.
Definition of 'memory' in GO:
The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task).
It is not usually clear which parts of this are better or worse when a memory phenotype is observed.
What is measured is usually the retrieval (% of a population exhibiting expected behavior), but retrieval may not be where the problem lies and none of this really fits rate (which is a defined as occurrence/time).
'rate' in PATO:
A quality of a single process inhering in a bearer by virtue of the bearer's occurrence per unit time.
'efficacy' - PATO:0015002 may be better for memory
The ability of a process to produce its output.
For this or the next VFB ontology call, it would be good to do the following:
Flybase annotates abnormal anatomical entities with FBBT terms; downstream tools need to be able to distinguish FBBT terms from their phenotypes, and need a term for "abnormal eye". Can we find out from FlyBase if they would consider to host a component here in this repo that reads Flybase annotations from the database and automatically creates corresponding phenotype terms (plus mappings to FBBT terms) here, ideally in the FBcv IRI namespace?
Currently we added the all_imports goal to make pre_release, but maybe now IMPs are redone twice (once during pre-release, and once during release)
Phenotypes for subclasses of 'abnormal sleep'
e.g. 'abnormal sleep bout duration', 'abnormal daytime sleep'
Curators to decide which classes will be most useful - may need new GO terms/new upheno patterns.
Decide on classes to use for behaviors from FlyBowl
Links to behavior pages are http://research.janelia.org/bransonlab/FlyBowl/BehaviorResults/BehaviorStats/<behavior_name>.html
MOVEMENT
backup - NBO:0000101 'retropulsion'
jump - GO:0007630 'jump response' (have this as 'jump response defective' phenotype), NBO:0000016 'jumping behavior' (this might be better if there is no stimulus to trigger a 'response')
pivotcenter + pivottail - NBO:0009001 'rotation behavior'
walk - GO:0090659 'walking behavior', NBO:0000056 'walking behavior'
crabwalkextreme - NEW
stop - NEW
wingflick - NEW
winggrooming - NEW (unless we use existing 'grooming behavior defective')
righting - this phenotype seems to be the result of flies falling over more often rather than any changes to the righting mechanism? GO:0060013 'righting reflex', NBO:0000578 'righting reflex'? or use existing 'uncoordinated' phenotype?
SOCIAL
attemptedcopulation + copulation - GO:0007620 'copulation', NBO:0000060 'copulation'
chase - NEW (existing chase behaviors are for play or aggression)
touch - NEW
wingextension - GO:0048065 'male courtship behavior, veined wing extension'
notanybehavior -> leave this out?
Is:
PATO_0000001 and (RO_0000052 some GO_0060361) and (RO_0002573 some PATO_0000462)
Should be
PATO_0000462 and (RO_0000052 some GO_0060361) and (RO_0002573 some PATO_0000460)
I took the liberty to change this @dosumis, please let me know if this was wrong!
We need some basic looking at (sanity checking, does it look mostly normal?) and diffing of dpo.obo (and .owl) with previous releases! The only thing that is missing is the definition generator. Working on that!
These phenotypes have been judged to be unnecessary as the are too 'molecular' for use in FlyBase phenotype curation and the same information can be captured at the gene level by GO curation. There are no replacement terms.
FBcv:0001324 - 'endocytosis defective'
FBcv:0001325 - 'exocytosis defective'
Body weight (inheres in some FBbt:00000001 - 'organism'):
http://purl.obolibrary.org/obo/upheno/patterns-dev/abnormalWeightOfAnatomicalEntity.yaml
http://purl.obolibrary.org/obo/upheno/patterns-dev/abnormallyDecreasedWeightOfAnatomicalEntity.yaml
http://purl.obolibrary.org/obo/upheno/patterns-dev/abnormallyIncreasedWeightOfAnatomicalEntity.yaml
Size (inheres in some FBbt:00007001 - 'anatomical structure'):
http://purl.obolibrary.org/obo/upheno/patterns-dev/abnormalSizeOfAnatomicalEntity.yaml
http://purl.obolibrary.org/obo/upheno/patterns-dev/abnormallyDecreasedSizeOfAnatomicalEntity.yaml
http://purl.obolibrary.org/obo/upheno/patterns-dev/abnormallyIncreasedSizeOfAnatomicalEntity.yaml
(and perhaps rename body size phenotypes to increased/decreased rather than large/small)
I have started going through your tsv files; the next goal is to break out the individual phenotypes and assign them to the correct uPheno patterns.
For example:
http://purl.obolibrary.org/obo/FBcv_0000718 decreased cell growth http://purl.obolibrary.org/obo/GO_0016049 cell growth http://purl.obolibrary.org/obo/PATO_0000911 decreased rate
Needs to be placed in a tsv corresponding to the abnormallyDecreasedRateOfBiologicalProcess pattern.
After the tsv is created and the respective phenotypes are placed in there, you need to:
Note that this work may involve creating new uPheno patterns! Ping me of you need help for that.
@Clare72 Can you remember the history behind that pattern? We have one defined class in the default pipeline, but no corresponding pattern (dont fix it right now, working on it?).
FBdv import seems to pull in the whole of FBdv, despite only a handful of terms being used. Maybe this is inevitable given the use of SLME, but it has serious consequences for reasoning efficiency for DPO with HermiT or Fact++ compared to reasoning using the stripped down import previously in place.
It should be sufficient to have classification + (x)<-immediately_preceded_by-(y) where x and y are FBdv terms used in DPO.
This should be fixed when the overall imports concept of ODK is fixed, but it is now nothing to worry about!
For example:
X as defined_by $sub_GO:001 previously got an xref to GO:001 on top of any already existing xrefs. @Clare72 let me know whether this is priority for this release.
should be defined as
Equivalent to:
has_part some quality and has_modifier some abnormal
(move to correct pattern, not edit in OWL)
So we can assign tickets to him ;P
'thermotaxis' is not a behavior in GO, so 'thermotaxis behavior defective' should be renamed to 'thermotaxis defective' (similar to other 'taxis' phenotypes).
http://purl.obolibrary.org/obo/upheno/patterns-dev/abnormallyIncreasedRateOfBiologicalProcess.yaml
http://purl.obolibrary.org/obo/upheno/patterns-dev/abnormallyDecreasedRateOfBiologicalProcess.yaml
phototaxis - GO:0042331
cell adhesion - GO:0007155
I have started going through your tsv files; the next goal is to break out the individual phenotypes and assign them to the correct uPheno patterns.
For example:
http://purl.obolibrary.org/obo/FBcv_0000361 large body http://purl.obolibrary.org/obo/FBbt_00000001 organism http://purl.obolibrary.org/obo/PATO_0000586 increased size
Needs to be placed in a tsv corresponding to the increasedSizeOfAnatomicalEntity pattern.
After the tsv is created and the respective phenotypes are placed in there, you need to:
Other phenotype ontologies favour 'abnormal' over 'defective' in phenotype names. This is generally considered to be clearer if it can be any difference from controls (including increases and decreases).
We should consider renaming our phenotypes to use 'abnormal' ('defective' versions can be kept as synonyms)
Behavior list is here:
http://research.janelia.org/bransonlab/FlyBowl/BehaviorResults/behaviorlist.html
These are all keys for quantitative recording. Working out what can be expressed using (qualitative) ontology terms will take discussion. Some look straightforward though e.g.:
walking
wing flicking
touching
wing extension
righting
Patterns that follow fertile should be normal.
If we use normal/abnormal we will get rid of the current nesting.
http://purl.obolibrary.org/obo/upheno/patterns-dev/abnormalBehavior.yaml
GO term name | GO ID | new FBcv term name |
---|---|---|
anesthesia-resistant memory | GO:0007615 | abnormal anesthesia-resistant memory |
short-term memory | GO:0007614 | abnormal short-term memory |
medium-term memory | GO:0072375 | abnormal medium-term memory |
long-term memory | GO:0007616 | abnormal long-term memory |
We should review the lethal phenotype patterns and add them to uPheno if we believe the way they are are the way to go!
Merge 'neoplasia' and 'tumorigenic' because tumor and neoplasia are synonyms.
For definitions, please see:
https://www.cancer.gov/publications/dictionaries/cancer-terms/def/neoplasm
https://www.cancer.gov/publications/dictionaries/cancer-terms/def/tumor
To cover malignancy, please also create the child term 'cancer' and the grandchild term 'metastatic cancer'
tumor
neoplasia
A phenotype that consists of the presence of "an abnormal mass of tissue that forms when cells grow and divide more than they should or do not die when they should. Tumors may be benign (not cancer) or malignant (cancer). Benign tumors may grow large but do not spread into, or invade, nearby tissues or other parts of the body. Malignant tumors can spread into, or invade, nearby tissues. They can also spread to other parts of the body through the blood and lymph systems. Also called neoplasm.
[Please see https://www.cancer.gov/publications/dictionaries/cancer-terms/def/tumor]
size defective
cancer
invasive tumor, malignant tumor, malignancy
A phenotype that consists of the presence of a tumor where cells invade nearby tissues and can also spread to other parts of the body.
[Please see https://www.cancer.gov/publications/dictionaries/cancer-terms/def/cancer]
[Please see https://www.cancer.gov/publications/dictionaries/cancer-terms/def/malignancy]
tumor
metastatic cancer
metastatic tumor
A phenotype that consists of the presence of a tumor where cells spread to other parts of the body, forming metastasis.
[Please see https://www.cancer.gov/publications/dictionaries/cancer-terms/def/metastasis]
cancer
It boils down to this:
aplastic, a subclass of aplastic/hypoplastic, is defined in PATO as the intersection of agenesis and aplastic/hypoplastic. agensis explicitly implies "absent". Unfortunately, DPO (FBCV) asserts that aplastic/hypoplastic is a subclass of "decreased size", which, via a trail of complicated expressions, implies "present". Since present and absent are disjoint, aplastic becomes unsatisfiable (inconsistent).
An easy way to fix this would be to remove the assertion that aplastic/hypoplastic is a subclass of decreased size. It is up to you. Is this something you would be willing to fix? It would help me in my agenda to unify phenotype pattern design across species.
Declaration(AnnotationProperty(:fbcvsubset_mgiribbons))
Declaration(AnnotationProperty(fbcv:BRAIN_NAME_ABV))
Declaration(AnnotationProperty(fbcv:BRAND_NAME))
I am wondering whether i can change that to:
Declaration(AnnotationProperty(fbcv:subset_mgiribbons))
Declaration(AnnotationProperty(fbcv:BRAIN_NAME_ABV))
Declaration(AnnotationProperty(fbcv:BRAND_NAME))
And, of course, fix all other references in the file as well. Note that : is the default namespace, which is ontology iri, so in this here case purl/dpo.owl, so this may not what you want (because you want this to work with fbcv.obo).
https://www.nature.com/articles/nature14297 FBrf0228257
The paper characterises and escape response circuit and so has behavioral phenotypes in which this response is disrupted. A quick query of FB-chado shows no phenotype curation for this paper:
SELECT p.uniquename from phenotype p JOIN phenstatement ps on ps.phenotype_id = p.phenotype_id JOIN pub on ps.pub_id = pub.pub_id where pub.uniquename = 'FBrf0228257';
=>
(0 rows)
This has no bearing on the release, but during qc I noticed that there are some strange equivalences that need to be investigated:
2019-08-16 07:42:48,375 ERROR org.obolibrary.robot.ReasonOperation - Only equivalent classes that have been asserted are allowed. Inferred equivalencies are forbidden.
2019-08-16 07:42:48,376 ERROR org.obolibrary.robot.ReasonOperation - Equivalence: <http://purl.obolibrary.org/obo/CL_0000003> == <http://purl.obolibrary.org/obo/CL_0000000>
2019-08-16 07:42:48,377 ERROR org.obolibrary.robot.ReasonOperation - Equivalence: <http://purl.obolibrary.org/obo/CL_0000000> == <http://purl.obolibrary.org/obo/CARO_0000013>
2019-08-16 07:42:48,377 ERROR org.obolibrary.robot.ReasonOperation - Equivalence: <http://purl.obolibrary.org/obo/CL_0000003> == <http://purl.obolibrary.org/obo/GO_0005623>
In particular I dont like the two CL equivalences..
The following FBcv terms are under 'phenotype' but are missing the 'phenotypic_class' namespace. This means that they are not loading up into Canto properly (as its presumably using the namespace to 'find' all the phenotypic class terms).
I don't know whether any of the other recently created pheno class terms have a similar issue, but please could the following line be added to these three terms and any others where it is missing:
namespace: phenotypic_class
[Term]
id: FBcv:0007504
name: abnormal body weight
def: "Phenotype that is any abnormality in body weight compared to identically raised wild-type controls." [FBC:CP]
is_a: FBcv:0001347 ! phenotype
created_by: http://orcid.org/0000-0002-1373-1705
creation_date: 2020-12-15T15:47:07Z
[Term]
id: FBcv:0007505
name: increased body weight
def: "Phenotype that is an increase in body weight compared to identically raised wild-type controls." [FBC:CP]
is_a: FBcv:0001347 ! phenotype
created_by: http://orcid.org/0000-0002-1373-1705
creation_date: 2020-12-15T15:50:18Z
[Term]
id: FBcv:0007506
name: decreased body weight
def: "Phenotype that is a decrease in body weight compared to identically raised wild-type controls." [FBC:CP]
is_a: FBcv:0001347 ! phenotype
created_by: http://orcid.org/0000-0002-1373-1705
creation_date: 2020-12-15T15:50:44Z
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