monarch-initiative omim issues

monarch-initiative / omim

Data ingest pipeline for OMIM.

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issues

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Delete `make` goals with no usages

#115 joeflack4 opened 1 week ago
0
Make codebase compatible w/ latest ODK

#114 joeflack4 opened 4 weeks ago
3
HGNC robot template

#113 joeflack4 closed 1 week 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 1 year 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 1 year 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