OA and scripts for disease data

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OA for disease data in WormBase

Fields

One gene can be attached to more than one Experimental_Model and one Disease_Relevance (and their related papers, databases and species); they will be grouped together in one instance of the Editor and grouped together in one line in the data-table. This is similar to a gene being attached to more than one GO term. If a gene needs to be attached to a unrelated disease, enter all data on a new line, by hitting 'New' in the OA.

Editor:

Field 1 Name: (dis_wbgene) WBGene
Behavior of field: Autocomplete obo
Source: WBGene obo
Similar to: WBGene in the GO OA or concise descrips OA
As one starts typing locus name, eg, lin-10 or cosmid name, eg., C09H6 script autocompletes and fills in WBGene ID.

Q: So single value, not multiple?
A: Single value.

Field 2 Name: (dis_curator) Curator
Behavior of field: Auto-complete drop-down with ready values
Similar to: Curator field in GO OA

Field 3 Name: (dis_curhistory) Curator History Behavior of field: However it is in the concise OA; this is not something that can be changed manually.
Similar to: consise OA

Field 4 Name: (dis_humandoid) Experimental model for
Behavior:Autocomplete obo
Obo file to be used: DO_term obo
Source: https://diseaseontology.svn.sourceforge.net/svnroot/diseaseontology/trunk/HumanDO.obo
Similar to: GO term field in the GO OA.
For example, curator starts typing 'Alz', picks 'Alzheimer's disease' from the drop-down and script populates field with 'Alzheimer's disease (DOID:10652); similar to GO term OA in the GO OA.

Q:Updating: How do we update this obo file, how frequently do other obo files get updated?
A: Everyday at 8pm, if it has the proper .obo format it should be easy to add to the cronjob that picks them up.
/home/postgres/work/pgpopulation/obo_oa_ontologies/update_obo_oa_ontologies.pl

Q: Single value / multivalue ?
A: Multiple value, as I may need to attach more than one DO term to a gene.

Field 5 Name: (dis_paperexpmod) Paper for Exp Mod
Obo file to be used: Paper obo
Behavior:Autocomplete obo
Obo file to be used: WBPaper obo
Similar to: The Paper field in the GO OA

Q: You mean the papers in the paper editor ?
The Paper obo, I guess they all come from the Paper Editor.

Q:Single/multi ?
Multi value.

Field 6 Name: (dis_xrefdb) Database for Exp Mod
Behavior: Free text, multiple values comma-separated

Q: Will they dump in separate lines in the output ? Usually those are pipe-separated. If they'll dump literally as pasted in, then commas are good.
A: Per latest conversation, using commas is fine, as long as there never will be a comma in the data itself, which is not likely to happen as these are OMIM IDs

Q:Do you want to use the same list as everyone else, and add new values to it (if they're okay with those values) ?
A: Yes, I just spoke to Daniela and adding the value 'Homo sapiens' is fine with her, if you want I can e-mail the group, but she felt adding needed values was fine.

Field 7 Name: (dis_species) Species
Behavior: Auto-complete drop-down with ready values
Similar to: Project field in the GO OA
Current values: Homo sapiens

Field 8 Name: Last Updated for Exp Model
Script autopopulates date when data is a New line, i.e when the "New" button is used.

Field 9 Name: (dis_diseaserelevance) Disease relevance
Behavior: Big Text box (big text-box, keeps expanding)
Similar To: 'Description Text' field in the Concise OA.
This is the Human_disease_relevance description (it appears as one of the drop-down values) for the'Description Type' field in the 'Concise' OA.
Change needed: Human_disease_relevance will not be entered via the concise OA. We can remove the 'Human_disease_relevance' from the 'Description Type' field in the OA.

Q:Do we start this OA by populating it from existing data in the GO OA ?
A:You mean 'existing data in the concise description OA, We can, if thats the way you want to start, or we can do it later.

Q: If so, let me know how to transfer the data.
A: So for any given 'Human disease relevance' description in the concise OA the transfer from Concise OA to Gene-disease OA is as follows:
WBGene-->WBGene
Curator-->Curator
Curator History-->Curator History
Description Text (Human Disease Relevance)-->Disease Relevance
Reference-->Reference under Disease Relevance
Accession Evidence-->OMIM Database
Last Updated-->Last updated PGID-->PGID

Field 10 Name: (dis_paperdisrel) Paper for Disease Rel
Behavior: Autocomplete obo
Obo file to be used: WBPaper obo
Similar to: The Paper field in the GO OA

Q:So there's two papers fields. Are they both required, or it must have at least one, or nothing is required ?
A: Both are required.
Q:single/multi value ?
A: Multivalue

Field 11 Name: (dis_omimdb) Database for Disease Rel
Behavior: Free text, multiple values comma-separated

Q:Same as xref Database, but a different field ?
A: Exactly, again I will pipe-separate multiple values.

Field 12 Name: (dis_lastupdate) Last Updated for Disease Rel
Behavior: Script fills in current date if new annotation, if manually changing, entered as YYYY-MM-DD
Script autopopulates date when its a new data line.

Field 13 Name: dis_comment Comment
Behavior: Free text

Field 14 Name: pgid

Data constraints

For curators only at the tool level to check if required fields are filled.
WBGene
Curator
Experimental model for
Paper for Exp Mod
Species
Disease relevance
Paper for Disease Rel
Last Updated

To make live:
at : /home/postgres/work/pgpopulation/dis_disease/
create_dis_tables.pl -- create new postgres tables for dis_ disease OA
synchronize OA
transfer_concise_disease.pl -- take 95 entries that have con_desctype = 'Human_disease_relevance' and add them to dis_ tables starting with pgid 1.
Ranjana, manually delete the Human_disease_relevance entries from the concise OA.
remove the Human_disease_relevance option from the OA, resynchronize.

Dumper specifications

Mapping between OA fields and acedb tags

Model:

?Gene
DB_info  Database ?Database ?Database_field Text
Disease_info Experimental_model ?DO_term XREF Gene_by_biology ?Species   #Evidence	            
             Potential_model ?DO_term XREF Gene_by_orthology ?Species #Evidence
             Disease_relevance  ?Text ?Species #Evidence

We do not fill in Potential_model tag, Sanger does.

The example is lov-1 in the disease OA in the sandbox:

Model tag: ?Gene
Use value: WBGene (take ID only)
Eg: WBGene00003058

Model tag: DB_info Database ?Database ?Database_field Text
Use value(s) in 'xref Database' and in 'OMIM database'
Eg: OMIM:173900 and OMIM:601313, do not take OMIM:173900 again from 'OMIM database' since it is a duplicateof that in 'xref Database'.

.ace:
Database	 "OMIM"	   "disease"	 "173900"
Repeat line for each value if there are multiple values

Model tag: Experimental_model ?DO_term XREF Gene_by_biology ?Species #Evidence
Use value in 'Experimental Model for'
Eg:autosomal dominant polycystic kidney (DOID:5937); take ID only
Use value in 'Species' for ?Species
Eg: Homo sapiens
Use value(s) in 'Paper for Disease Rel' for #Evidence
Eg.WBPaper00038373
Repeat .ace line for every paper if multiple papers are present.

.ace:

Experimental_model  DOID:5937  "Homo sapiens"	Paper_evidence	"WBPaper00038373"	

Model tag: Disease_relevance  ?Text ?Species #Evidence
Use value in 'Disease Relevance' for ?Text
Eg:lov-1 and pkd-2 encode the orthologs of human Polycystin-1 and Polycystin-2, which are mutated in autosomal dominant polycystic kidney disease; the polycystins regulate signaling involved in normal renal tubular structure and function; studies in the worm C. elegans have contributed extensively to the finding that cystic kidney diseases can be considered ciliopathies; in elegans lov-1 and pkd-2 are expressed in male ciliary neurons, are required for normal male mating behavior, do not seem to be required for ciliogenesis, and each polycystin may actually have a potential inhibitory function on the other for ciliary function; lov-1 and pkd-1 interact with a single-pass transmembrane protein, CWP-5, though the significance of this interaction for polycystic kidney disease is unknown.

Use value in 'Species' for ?Species
Eg. Homo sapiens

Use value in 'Paper for Disease Rel' for #Evidence
Eg: WBPaper00038373

.ace:
Disease_relevance "lov-1 and pkd-2 encode the orthologs of human Polycystin-1 and    Polycystin-2, which are mutated in autosomal dominant polycystic kidney disease; the polycystins regulate signaling involved in normal renal tubular structure and function; studies in the worm C. elegans have contributed extensively to the finding that cystic kidney diseases can be considered ciliopathies; in elegans lov-1 and pkd-2 are expressed in male ciliary neurons, are required for normal male mating behavior, do not seem to be required for ciliogenesis, and each polycystin may actually have a potential inhibitory function on the other for ciliary function; lov-1 and pkd-1 interact with a single-pass transmembrane protein, CWP-5, though the significance of this interaction for polycystic kidney disease is unknown."	"Homo sapiens"	Paper_evidence	"WBPaper00038373"

(Repeat this line for every paper, if multiple papers are present).

So put together, .ace file for lov-1 looks like:

Gene : "WBGene00003058"
Database	"OMIM"	"disease"	"173900"
Database	"OMIM"	"disease"	"601313"
Experimental_model DOID:5937 "Homo sapiens"	Paper_evidence	"WBPaper00038373"	
Disease_relevance	"lov-1 and pkd-2 encode the orthologs of human Polycystin-1 and Polycystin-2, which are mutated in autosomal dominant polycystic kidney disease; the polycystins regulate signaling involved in normal renal tubular structure and function; studies in the worm C. elegans have contributed extensively to the finding that cystic kidney diseases can be considered ciliopathies; in elegans lov-1 and pkd-2 are expressed in male ciliary neurons, are required for normal male mating behavior, do not seem to be required for ciliogenesis, and each polycystin may actually have a potential inhibitory function on the other for ciliary function; lov-1 and pkd-1 interact with a single-pass transmembrane protein, CWP-5, though the significance of this interaction for polycystic kidney disease is unknown."	"Homo sapiens"	Paper_evidence	"WBPaper00038373"

When to dump data

If data is present in Field 4-- (dis_expmodelfor) Experimental model for, dump this field and the related fields:
Field 5 Name:(dis_paperexpmod) Paper for Exp Mod
Field 6 Name:(dis_xrefdb) Database for Exp Mod
Field 7 Name:(dis_species) Species

If data is present in Field 9 Name:(dis_diseaserelevance) Disease relevance, dump this and the related fields:
Field 10 Name:(dis_paperdisrel) Paper for Disease Rel
Field 11 Name:(dis_omimdb) Database for Disease Rel
Field 7 Name:(dis_species) Species