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OMIMPS labels missing from Something isn't working
mondo.sssom.tsv
bug
#110
opened Apr 29, 2024 by
joeflack4
morbidmap.txt
: Cases where same MIM# is mapped to (i) a phenotype MIM# and (ii) a plain label
analysis
#86
opened Nov 19, 2022 by
joeflack4
parcel out OMIM ", Included" entries in OMIM ingest
bug
Something isn't working
urgency:low
#84
opened Nov 18, 2022 by
nicolevasilevsky
Documentation updates
documentation
Improvements or additions to documentation
urgency:medium
#83
opened Nov 15, 2022 by
joeflack4
2 tasks
morbidmap.txt
: 1 case of association w/ 2 mapping keys
urgency:low
#81
opened Nov 13, 2022 by
joeflack4
OMIM ingests: Monarch vs Mondo: compare, update, (merge?)
urgency:low
#80
opened Nov 12, 2022 by
joeflack4
3 tasks
GeneDiseaseAssociation predicates
bug
Something isn't working
urgency:low
#79
opened Nov 12, 2022 by
joeflack4
Grouping issue:
morbidmap.txt
and GeneDiseaseAssociations
#77
opened Nov 12, 2022 by
joeflack4
10 tasks
morbidmap.txt
: Compare Exomiser & Monarch Ingest implementations (missing MIM#s, etc)
urgency:low
#76
opened Nov 12, 2022 by
matentzn
2 tasks
morbidmap.txt
(gene::phenotype relationships): Parse fully
bug
#73
opened Oct 26, 2022 by
joeflack4
7 tasks
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
Ensure that we properly capturing disease::gene relationships
urgency:low
#62
opened Jun 4, 2022 by
joeflack4
2 tasks
Illegal punning on some properties
bug
Something isn't working
urgency:low
#60
opened Apr 26, 2022 by
matentzn
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
Adhere to basic principles for all source ingests
enhancement
New feature or request
urgency:low
#56
opened Apr 18, 2022 by
joeflack4
HGNC symbol::id mappings: use better mapping file
enhancement
New feature or request
urgency:low
#55
opened Apr 18, 2022 by
joeflack4
Pipenv -> pip || poetry||tox
automation / CI
bug
Something isn't working
urgency:low
#51
opened Apr 17, 2022 by
joeflack4
Difference with the official OMIM
bug
Something isn't working
urgency:low
#43
opened Mar 30, 2022 by
Lawhy
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