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monarch-initiative
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omim
Data ingest pipeline for OMIM.
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Equivalency clique analysis
#64
joeflack4
closed
1 year ago
0
NCBITaxon entity is wrong
#63
matentzn
closed
2 years ago
1
Ensure that we properly capturing disease::gene relationships
#62
joeflack4
opened
2 years ago
0
Add IRI and version IRI to OMIM
#61
matentzn
opened
2 years ago
0
Illegal punning on some properties
#60
matentzn
opened
2 years ago
4
Where to find more information about Mondo?
#59
Shicheng-Guo
closed
2 years ago
1
genes missing in the omim.ttl
#58
sabrinatoro
closed
1 year ago
7
Ingesr entrez, ensemble, HGNC, HGNC symbol mappings as SSSOM files
#57
joeflack4
opened
2 years ago
2
Adhere to basic principles for all source ingests
#56
joeflack4
opened
2 years ago
2
HGNC symbol::id mappings: use better mapping file
#55
joeflack4
opened
2 years ago
3
SSSOM misc updates
#54
joeflack4
closed
2 years ago
0
Add `mapping_set_description` to `sssom.metadata.yml`
#53
joeflack4
closed
2 years ago
0
Review SSSOM metadata
#52
matentzn
closed
2 years ago
1
Pipenv -> pip || poetry||tox
#51
joeflack4
opened
2 years ago
1
Update equivalency predicates
#50
joeflack4
closed
1 year ago
0
Reconcile inconsistent HGNC mappings
#49
joeflack4
closed
2 years ago
3
HGNC-related updates & `skos:exactMatch` -> `oboInOwl:hasExactSynonym`
#48
joeflack4
closed
2 years ago
1
Get HGNC IDs in addition to symbols
#47
joeflack4
closed
2 years ago
1
Create a complete UMLS-OMIM SSSOM mapping file
#46
matentzn
closed
2 years ago
4
OMIM gene equivalencies cause cycles/cliques
#45
matentzn
closed
1 year ago
16
Create a complete HGNC-OMIM SSSOM mapping file
#44
matentzn
closed
2 years ago
6
Difference with the official OMIM
#43
Lawhy
opened
2 years ago
7
URI with http or https
#42
hrshdhgd
closed
1 year ago
2
Ingest uses skos:exactMatch instead of oboInOwl:hasExactSynonym
#41
matentzn
closed
2 years ago
2
OMIM releases should be versioned moving forward
#40
matentzn
opened
2 years ago
1
Several updates
#39
joeflack4
closed
2 years ago
0
Cant run release myself
#38
matentzn
closed
2 years ago
1
OMIMPS URL should be https://www.omim.org/phenotypicSeries/PS
#37
matentzn
closed
2 years ago
5
omim.owl in the release should be called omim.owl
#36
matentzn
closed
1 year ago
1
hasSynonymType needs to be declared an OWL annotation property
#35
matentzn
closed
2 years ago
4
Not enough terms labeled w/ `biolink:category biolink:Disease`?
#34
joeflack4
closed
2 years ago
3
OMIM alternative title should be exact synonyms
#33
nicolevasilevsky
closed
2 years ago
0
Utilize titles from `morbidMap.txt` in addition to `mimTitles.txt`
#32
joeflack4
opened
2 years ago
0
Finish automation & add a GitHub Action
#31
joeflack4
opened
2 years ago
6
Tag annotations such as synonyms and definitions with the data model entry they come from
#30
matentzn
opened
2 years ago
0
Delete data/omim.ttl
#29
matentzn
closed
1 year ago
1
OMIM synonym scope needs review
#28
joeflack4
opened
2 years ago
2
OMIM synonyms should be broken into synonyms - main term and abbreviation
#27
joeflack4
closed
2 years ago
1
Super-issue: Capitalization
#26
joeflack4
opened
2 years ago
0
Typos in capitalization
#25
joeflack4
opened
2 years ago
0
OMIM slurp: dna should be capitalized (DNA)
#24
nicolevasilevsky
opened
2 years ago
0
OMIM slurp: If a letter follows a number, it should be capitalized
#23
nicolevasilevsky
opened
2 years ago
0
Acronyms should get ABBREVIATION tag
#22
matentzn
opened
2 years ago
0
Synonyms should be "exact" by default, not "related"
#21
matentzn
opened
2 years ago
0
Create GitHub action that runs scraping once per week
#20
matentzn
opened
2 years ago
1
Combine 'fetch PMIDs' and 'web scrape new codes' w/ overall pipeline
#19
joeflack4
closed
2 years ago
1
Auto generate 'latest release' on PR merge
#18
joeflack4
opened
2 years ago
2
Test: Output should be processable by ROBOT
#17
joeflack4
closed
2 years ago
1
Changed so that BNodes have a deterministic ID
#16
joeflack4
closed
2 years ago
2
Build should be deterministic
#15
joeflack4
closed
2 years ago
0
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