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35 Open 46 Closed
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Issues list

Considerations from OMIM
#104 opened Jul 17, 2023 by nicolevasilevsky
2 tasks
@matentzn @joeflack4
4
HGNC prefixes should be changed urgency:low
#88 opened Dec 21, 2022 by matentzn
1 of 2 tasks
@joeflack4
1
morbidmap.txt: Cases where same MIM# is mapped to (i) a phenotype MIM# and (ii) a plain label analysis Not a feature or update to the core of the repository, but an ad hoc analysis.
#86 opened Nov 19, 2022 by joeflack4
@sabrinatoro
morbidmap.txt: Include phenotype label in ingest? urgency:low
#85 opened Nov 19, 2022 by joeflack4
@joeflack4
2
parcel out OMIM ", Included" entries in OMIM ingest bug Something isn't working urgency:low
#84 opened Nov 18, 2022 by nicolevasilevsky
@joeflack4
4
Documentation updates documentation Improvements or additions to documentation urgency:medium
#83 opened Nov 15, 2022 by joeflack4
2 tasks
@joeflack4
2
morbidmap.txt: 1 case of association w/ 2 mapping keys urgency:low
#81 opened Nov 13, 2022 by joeflack4
@matentzn @sabrinatoro @joeflack4
2
OMIM ingests: Monarch vs Mondo: compare, update, (merge?) urgency:low
#80 opened Nov 12, 2022 by joeflack4
3 tasks
@joeflack4
2
GeneDiseaseAssociation predicates bug Something isn't working urgency:low
#79 opened Nov 12, 2022 by joeflack4
@matentzn @sabrinatoro @joeflack4
3
Grouping issue: morbidmap.txt and GeneDiseaseAssociations
#77 opened Nov 12, 2022 by joeflack4
10 tasks
1
morbidmap.txt: Compare Exomiser & Monarch Ingest implementations (missing MIM#s, etc) urgency:low
#76 opened Nov 12, 2022 by matentzn
2 tasks
@joeflack4
10
morbidmap.txt (gene::phenotype relationships): Parse fully bug Something isn't working ease:high urgency:low
#73 opened Oct 26, 2022 by joeflack4
7 tasks
@joeflack4
Use (a) Exomiser (b) Medgen for validating/testing output? QA / test Tests and other Quality Assurance issues. urgency:low
#71 opened Oct 14, 2022 by joeflack4
@joeflack4
2
Update OMIM URIs urgency:low
#68 opened Oct 5, 2022 by joeflack4
@joeflack4
Ensure that we properly capturing disease::gene relationships urgency:low
#62 opened Jun 4, 2022 by joeflack4
2 tasks
@joeflack4
Add IRI and version IRI to OMIM urgency:low
#61 opened May 26, 2022 by matentzn
@joeflack4
Illegal punning on some properties bug Something isn't working urgency:low
#60 opened Apr 26, 2022 by matentzn
@joeflack4
4
Ingesr entrez, ensemble, HGNC, HGNC symbol mappings as SSSOM files ease:high enhancement New feature or request urgency:low
#57 opened Apr 20, 2022 by joeflack4
@joeflack4
2
Adhere to basic principles for all source ingests enhancement New feature or request urgency:low
#56 opened Apr 18, 2022 by joeflack4
@joeflack4
2
HGNC symbol::id mappings: use better mapping file enhancement New feature or request urgency:low
#55 opened Apr 18, 2022 by joeflack4
@joeflack4
3
Pipenv -> pip || poetry||tox automation / CI bug Something isn't working urgency:low
#51 opened Apr 17, 2022 by joeflack4
@joeflack4
1
Difference with the official OMIM bug Something isn't working urgency:low
#43 opened Mar 30, 2022 by Lawhy
@joeflack4
7
OMIM releases should be versioned moving forward urgency:low
#40 opened Feb 25, 2022 by matentzn
@joeflack4
1
Utilize titles from morbidMap.txt in addition to mimTitles.txt ease:high enhancement New feature or request urgency:low
#32 opened Nov 16, 2021 by joeflack4
@joeflack4
Finish automation & add a GitHub Action automation / CI enhancement New feature or request urgency:low
#31 opened Nov 14, 2021 by joeflack4
1 of 3 tasks
@joeflack4
6
ProTip! no:milestone will show everything without a milestone.