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monarch-initiative
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omim
Data ingest pipeline for OMIM.
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Delete `make` goals with no usages
#115
joeflack4
opened
2 days ago
0
Make codebase compatible w/ latest ODK
#114
joeflack4
opened
3 weeks ago
3
HGNC robot template
#113
joeflack4
closed
5 days ago
1
Weird `\n'` in `omim.sssom.tsv`
#112
joeflack4
opened
1 month ago
3
OMIM prefix & URI prefix updates
#111
joeflack4
opened
1 month ago
1
OMIMPS labels missing from `mondo.sssom.tsv`
#110
joeflack4
opened
2 months ago
3
Bug fix: OMIMPS URI prefix
#109
joeflack4
closed
1 month ago
0
Bug fix: `known_capitalizations.tsv`
#108
joeflack4
closed
3 months ago
1
Refactor OMIM gene handling
#107
matentzn
closed
4 months ago
3
Build fail: KeyError 'MIM Number'
#106
joeflack4
closed
8 months ago
0
GitHub action failure(s)
#105
joeflack4
closed
10 months ago
10
Considerations from OMIM from Ada
#104
nicolevasilevsky
opened
11 months ago
5
Remove `www` from `https://www.omim.org/phenotypicSeries/PS`
#103
joeflack4
closed
3 months ago
9
Bugfix: `omim.sssom.tsv`
#102
joeflack4
closed
12 months ago
0
Add declaration for annotation prop
#101
joeflack4
closed
1 year ago
0
ODK in GitHub action
#100
joeflack4
closed
1 year ago
0
Remove `CL:17543` axioms
#99
joeflack4
closed
1 year ago
0
Remove `CL:17543` axioms (initial fail)
#98
joeflack4
closed
1 year ago
1
GH Action: Run in ODK
#97
joeflack4
closed
1 year ago
4
What to do: `CL:17543` axioms
#96
joeflack4
closed
1 year ago
2
Remove `omim.ttl` from commits?
#95
joeflack4
closed
1 year ago
4
Fixed releases not getting updated, and more
#94
joeflack4
closed
1 year ago
0
Makefile cleanup / help
#93
joeflack4
closed
1 year ago
0
Release: Include `omim.sssom.tsv` to GH action
#92
joeflack4
closed
12 months ago
14
Util to generate Mondo non-disease exclusions table
#91
joeflack4
closed
1 year ago
0
pipenv -> pip
#90
joeflack4
closed
1 year ago
0
CI: Updated build to run every month. Updated name of script.
#89
joeflack4
closed
1 year ago
0
HGNC prefixes should be changed
#88
matentzn
opened
1 year ago
1
`morbidmap.txt`: Cases where same MIM# is mapped to (i) a phenotype MIM# and (ii) a plain label
#86
joeflack4
opened
1 year ago
0
`morbidmap.txt`: Include phenotype label in ingest?
#85
joeflack4
opened
1 year ago
2
parcel out OMIM ", Included" entries in OMIM ingest
#84
nicolevasilevsky
opened
1 year ago
4
Documentation updates
#83
joeflack4
opened
1 year ago
2
Report: MIM titles with ", INCLUDED"
#82
joeflack4
closed
1 year ago
1
`morbidmap.txt`: 1 case of association w/ 2 mapping keys
#81
joeflack4
opened
1 year ago
2
OMIM ingests: Monarch vs Mondo: compare, update, (merge?)
#80
joeflack4
opened
1 year ago
2
GeneDiseaseAssociation predicates
#79
joeflack4
opened
1 year ago
3
`morbidmap.txt`: `Phenotype`s missing MIM#s
#78
joeflack4
closed
1 year ago
4
Grouping issue: `morbidmap.txt` and GeneDiseaseAssociations
#77
joeflack4
opened
1 year ago
1
`morbidmap.txt`: Compare Exomiser & Monarch Ingest implementations (missing MIM#s, etc)
#76
matentzn
opened
1 year ago
10
`morbidmap.txt`: `RO:0003302` when multiple rows / gene::disease relationships
#75
joeflack4
closed
1 year ago
12
OMIM Ingest: Invalid refs to `OMIM:1` -> `OMIM:14`
#74
joeflack4
closed
1 year ago
2
`morbidmap.txt` (gene::phenotype relationships): Parse fully
#73
joeflack4
opened
1 year ago
0
Several updates (morbid map, labeling, genes)
#72
joeflack4
closed
1 year ago
5
Use (a) Exomiser (b) Medgen for validating/testing output?
#71
joeflack4
opened
1 year ago
2
Bug: Matching on abbreviations
#70
joeflack4
closed
1 year ago
2
Bugfix: Invalid OMIM refs showing up in output
#69
joeflack4
closed
1 year ago
4
Update OMIM URIs
#68
joeflack4
opened
1 year ago
0
OMIM terms with `None` label
#67
joeflack4
closed
1 year ago
1
Utilize Entrez and Ensembl?
#66
joeflack4
closed
1 year ago
4
just testing something
#65
joeflack4
closed
1 year ago
1
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